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Khan, Muhammad Ihtesham, Hamid Nawaz Khan y Muhammad Usman. "BETA THALASSEMIA TRAIT;". Professional Medical Journal 25, n.º 04 (8 de abril de 2018): 545–50. http://dx.doi.org/10.29309/tpmj/18.4347.
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Khan, Muhammad Ihtesham, Hamid Nawaz Khan y Muhammad Usman. "BETA THALASSEMIA TRAIT". Professional Medical Journal 25, n.º 04 (10 de abril de 2018): 545–50. http://dx.doi.org/10.29309/tpmj/2018.25.04.343.
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Objectives: To assess the sensitivity of the various discrimination indicesas screening test in beta-thalassemia trait patients in our population. Study design: Crosssectional descriptive study. Period: 1-Sep 2012 to 31-Jan 2013 (5 months). Settings: PathologyDepartment, District Head Quarters (DHQ) Hospital, Rawalpindi. Materials and Methods: Atotal of 150 diagnosed cases of beta thalassemia trait were included in the study. Study wasdone from 1-Sep 2012 to 31-Jan 2013 in DHQ hospital, Rawalpindi. Four discrimination indicesi.e. Mentzer, Shine & Lal, Srivastava, and Red cell Distribution Width Index were calculated forall the patients. The number of correctly identified cases were determined and sensitivity ofeach discrimination index was calculated accordingly. Results: The sensitivity in diagnosingbeta thalassemia trait patients was highest for Shine and Lal index (95%), followed by Mentzerindex (52% sensitivity), and then Srivasava index (46% sensitivity). Red cell distribution widthindex had poor sensitivity of 2% in our study. None of the discrimination indices showed 100%sensitivity. Conclusion: We concluded that Shine & Lal and Mentzer index are the most sensitiveindices. They can be used for cheap and quick screening of beta-thalassemia trait patients inlaboratories where advanced investigation tools are not available. Patients who give positiveresult for beta thalassemia trait with these indices may then be referred for further workup toconfirm the diagnosis.
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Setiadji, Vinisia, Bidasari Lubis, Adi Koesoema Aman y Herman Hariman. "DISCREPANCY BETWEEN HAEMOGLOBIN, RDW, AND MEAN CORPUSCULAR VALUES IN PATIENTS WITH BETA THALASSEMIA / HEMOGLOBIN E DISEASE AND BETA THALASSEMIA TRAIT". INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY 25, n.º 3 (13 de abril de 2019): 343. http://dx.doi.org/10.24293/ijcpml.v25i3.1459.
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Thalassemia beta / hemoglobin E adalah suatu kondisi dengan heterozigot ganda gen pembawa thalassemia beta dan hemoglobin E. Hal ini menyebabkan kondisi dengan gambaran fenotip yang berat dibandingkan trait thalassemia beta dan trait hemoglobin E. Secara logika, nilai mean corpuscular dari thalassemia beta / hemoglobin E seharusnya memburuk. Pada penelitian ini, kami meneliti sebelas kasus dari dua keluarga dengan anggota menderita thalassemia beta / hemoglobin E.Pada keluarga-1 dua anggota dengan trait thalassemia beta memiliki nilai MCV 68 fL dan 65 fL, dan nilai MCH 21 pg dan 20 pg. Pada keluarga-2 anggota dengan trait thalassemia beta memiliki nilai MCV 60,2 fL dan MCH 18,8 pg. Anak perempuan dari kedua keluarga dengan thalassemia beta / hemoglobin E memiliki nilai mean ± SD MCV 70,8 ± 4,9 fL dan MCH 22.8 ± 2.3 pg, nilai ini signifikan lebih tinggi daripada trait thalassemia beta (p<0.05). Terdapat perbedaan yang signifikan antara nilai hemoglobin dan RDW antara thalassemia beta / hemoglobin E (p=0.001).Kami juga menemukan bahwa nilai MC dari keadaan post-transfusi signifikan lebih tinggi daripada pre-transfusi (p<0.001)Kami menyimpulkan bahwa nilai MC dari thalassemia beta / hemoglobin E secara persisten lebih tinggi daripada trait thalassemia beta. Peran transfusi darah pada pasien dengan thalassemia beta / hemoglobin E tampak memainkan peran dalam diskrepansi pada kasus ini.
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Rahman, MMU, M. Nayem, W. Begum, FA Begum, MNU Ahmed y S. Sultana. "Pattern of Red Cell Count and Red Cell Distribution Width (RDW %) in Beta Thalassaemia Trait in Adults". Bangladesh Journal of Medical Biochemistry 9, n.º 1 (27 de marzo de 2018): 31–35. http://dx.doi.org/10.3329/bjmb.v9i1.36152.
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Microcytic hypochromic anemia is one of the commonest hematological abnormalities in Bangladeshi population. Iron deficiency anemia and beta thalassemia traits are the most frequent causes of microcytic hypochromic anemia which are sometimes difficult to differentiate clinically and by routine laboratory examinations due to similar blood picture. To differentiate between patients of beta thalassemia trait and iron deficiency anemia, physicians need a group of investigations including peripheral blood film, estimation of HbA2, serum ferritin, serum iron, total iron binding capacity and transferrin saturation. But these tests are relatively expensive, time consuming and need sophisticated techniques. The aim of this study was to evaluate the pattern of red cell count and RDW-CV (%) in beta thalassemia trait in adults and thereby determine the role of these parameters in differentiation between patients of beta thalassemia trait and iron deficiency anaemia. In this study 50 confirmed cases of beta thalassemia trait aged 18 to 60 years, both male and female were included as cases and 50 age- and sex-matched iron deficiency subjects were included as control. RBC count and RDW-CV (%) were measured by an electronic cell counter device. The present study revealed that RBC count was higher in patients with beta thalassemia trait than that in iron deficiency anemia and RDW-CV(%) was significantly higher in patients with iron deficiency anemia than that in beta thalassemia trait.Bangladesh J Med Biochem 2016; 9(1): 31-35
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Shalli, Awaz Ahmed Kamal, Sana Dlawar Jalal y Dler Jaza Mohammed. "The impact of iron deficiency on the diagnostic level of HbA2 in beta- thalassemia trait from the Sulaimani hemoglobinopathies screening program". Advanced medical journal 7, n.º 1 (27 de julio de 2022): 95–100. http://dx.doi.org/10.56056/amj.2022.164.
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Background and objectives: The identification of carriers of beta- thalassemia depends on the detection of a high level of hemoglobin A2. The hemoglobin A2 level is influenced by some elements including iron. The consequence of concomitant iron deficiency on the hemoglobin A2 level is critical in screening laboratories for hemoglobinopathies, particularly in resource-limited ones where molecular identification of hemoglobin A2 levels is unavailable. The aim of this study is to evaluate the consequence of iron deficiency on hemoglobin A2 level to obtain a definite diagnosis of beta- thalassemia trait. Methods: A total of one hundred forty -five subjects were involved, divided into three groups: (50) healthy controls, (50) beta-thalassemia trait, and (45) coincident iron deficiency with beta-thalassemia trait. Full blood count, Iron status including serum iron with total iron-binding capacity, lastly hemoglobin A2 with hemoglobin F estimation were performed for all enrollees. Results: The age range in the beta-thalassemia trait group was 7-40 years, with mean of (26.6± 5.3) years, while the concomitant group has an age range of 15-36 years, with a mean of (24.4 ±5.1) years. Meanwhile the age of control group ranged from 19-36 years with a mean of (24.6 ±3.8) years. The hematological parameters were significantly reduced in beta- thalassemia trait and concomitant iron deficiency in comparison to the controls with no significant difference in hemoglobin A2 between beta thalassemia trait and concomitant iron deficiency (5.1± 0.9) and beta-thalassemia minor (5.2 ± 0.9). Conclusion: No influence of iron deficiency on the identification of beta-thalassemia minor detected in the screened population.
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Bhatt, Rajendra Dev. "Report of Beta Thalassemia in Newar Ethinicity". Annals of Clinical Chemistry and Laboratory Medicine 3, n.º 1 (23 de enero de 2018): 30–34. http://dx.doi.org/10.3126/acclm.v3i1.17298.
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Beta thalassemia trait is a heterogeneous autosomal recessive form of beta thalassemia. Individual with beta thalassemia are clinically asymptomatic. Here we have described a case that has been incidentally diagnosed as beta thalassemia trait. A 31 year old male form Newar Community came to hospital for routine health checkup was send for hematological investigation. On examination, his red cell morphology was found to be microcytic hypochromic and his hemoglobin concentration was mildly decrease. His other parameters was evaluated and requested for analysis of iron profile and hemoglobin electrophoresis. Iron profile test was normal. Hemoglobin electrophoresis showed prominent band in HbA2 region. Presence of HbA2 band was confirmed by hemoglobin variant HPLC analysis. A diagnosis of heterozygous beta thalassemia trait was made. Prevalence of beta thalassemia gene in Tharu population was reported but its presence in other communities is still unknown so it is recommended to study the prevalence of beta thalassemia gene in Newar community as well.
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Dutta, Shyamali, Tuphan Dolai, Rajat Kumar, Maitreyee Bhattacharyya, Barnali Chakraborti, Sharmistha Sanyal, Swarupa Bhattacharjee, Basab Bagchi, Rajib De y Malay K. Ghosh. "Are Red Cell Indices a Reliable Screening Tool in Pre-Natal Screening for the Avoidance of E-Beta Thalassemia and Beta Thalassemia Major Births? Results of a Population Survey From Eastern India". Blood 118, n.º 21 (18 de noviembre de 2011): 5303. http://dx.doi.org/10.1182/blood.v118.21.5303.5303.
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Abstract Abstract 5303 The state of West Bengal in the eastern part of India has a high prevalence of the carrier states of beta thalassemia and Hb E. Analysis of Hb HPLC screening data from 200 individuals, including adults and children from urban areas around Kolkata in West Bengal, carried out in our institution1, reveals a prevalence 6.5% for beta trait and 5.5% for HbE trait. (unpublished data) It may be possible to reduce births of beta thalassemia major and E beta thalassemia by preventive strategies, including mass screening and awareness campaigns. The best preventive method is debatable, because of the highly variable prevalence of the haemoglobin disorders within defined geographic regions (Weatherall DJ, Blood.2010), the economic factors involved and most importantly the question of acceptance of prevention methods. Because of the social stigma attached to the diagnosis of a genetic disease, families of young men and women diagnosed as thalassemia carriers in community screening programs often suppress this information when marriages are arranged, according to prevalent social practice. Therefore pre-marital screening, in our experience, is unlikely to be effective in reducing the number of beta thalassemia major and E-Beta thalassemia births in eastern India. Antenatal screening on the other hand has the potential for greater acceptability. Concern for the welfare of the unborn child are likely to make prospective parents more amenable to counselling and getting themselves tested for the thalassemia carrier state. We analysed data of 1000 antenatal mothers (Table 1), who had undergone screening for the thalassemia carrier state by red cell indices and Hb HPLC, as part of a government funded screening programme conducted in our institution1 in Kolkata city of West Bengal, India, in order to determine whether red cell indices, which is more economical than Hb HPLC, was an effective screening tool. Results of Hb HPLC screening data of 1000 antenatal women (Table 1) Result Beta Trait (HbA2% 3.6-6.6) Hb E trait (A2+E% 22.8-42.8) E Beta E Disease Sickle trait Sickle Beta D Trait D disease No of cases (%) 58(5.8%) 48(4.8%) 3(0.2%) 2(0.2%) 2(0.2%) 1(0.1%) 1 1 Where both partners were carriers, mutations were confirmed by complementary reverse dot blot hybridisation or DNA sequencing. Red Cell Indices in Thalassemia Carrier States (Table 2) Thalassemia Carrier State (1000 Antenatal Women) MCV (fl) MCH (pg) Mean Range (±95%CI) (±2SD) Mean Range (±95%CI) (±2SD) Beta Trait (n= 58) 68.6±1.70 55.4–81.8 21.80±0.64 16.6–26.8 E Trait(n=48) 78.8±1.42 67.8–89.8 26.4±0.62 22.0–30.8 Most antenatal women received iron and folic acid supplements, therefore iron status was not separately examined. To exclude the possibility of the effect of pregnancy on red cell indices, evaluation of MCV and MCH in 50 HbE trait individuals and 250 beta trait drawn from community screening data, comprising non-pregnant females and males, with normal serum ferritin values, mean MCV was 76.6fl (range 66.3–86.8fl), mean MCH 25.6pg (range 21.5–29.7pg) for E trait. For beta trait mean MCV was 67.0 fl (range 50–84 fl), mean MCH 21 pg (range 15–26 pg). There was no statistically significant difference from antenatal cases (Student's t-test ). MCV of <80fl and MCH < 27pg were previously reported to predict most beta thalassemia in pregnancy (Weatherall and Clegg Eds, The Thalassemia Syndromes, Part 4. UK: Blackwell Science Ltd, 2001 ). We tested whether these values could reliably predict beta trait and E trait taken together, in 1000 antenatal women in the present study (Table 3) Red Cell Indices as Predictor of Beta Trait and HbE Trait (Table 3) Sensitivity (%) Specificity (%) Positive Predictive Value (%) Negative Predictive Value (%) No of Beta Trait Missed on Screening (%) n=58 No of E Trait Missed on Screening (%) n=48 MCV <80fl 88 85 42 98 6 (10.3) 15 (31.3) MCH <27pg 84 82 35.2 98 9 (15.5) 17 (35.4) Conclusion –MCH and MCV tend to be higher in E trait compared to beta trait. We recommend that in high prevalence areas, Hb HPLC should be performed in all antenatal women irrespective of red cell indices, to avoid missing thalassemia carriers and facilities for genetic diagnosis and counselling be made available to couples at risk of beta thalessemia major and E beta thalessemia births. Disclosures: No relevant conflicts of interest to declare.
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Kotila, Taiwo R. "Sickle Cell Trait: A Benign State?" Acta Haematologica 136, n.º 3 (2016): 147–51. http://dx.doi.org/10.1159/000446526.
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Background: Sickle cell trait (SCT) is the heterozygous form of sickle cell disease and expectedly should be a benign state with no complications ascribed to it. There are numerous reports challenging its being a benign condition, though this is controversial. Methods and Results: A review of the results of the accompanying investigations done on some of the patients show that beta thalassemia may be responsible for many of the ascribed symptoms and complications. These patients may therefore have sickle cell beta thalassemia, a compound heterozygous form of sickle cell disease. Conclusion: It is important to screen for beta thalassemia using red cell indices and quantitation of the different hemoglobin fractions before attributing any symptoms to SCT. DNA analysis, though useful in ascertaining the presence of the sickle cell gene, is not sufficient. There is the need to exclude the presence of mutations for beta thalassemia, which often is geographical region-specific.
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Akasheh, M. S. "Graves' disease mimicking beta-thalassemia trait." Postgraduate Medical Journal 70, n.º 822 (1 de abril de 1994): 300–301. http://dx.doi.org/10.1136/pgmj.70.822.300.
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Shahid, Hassnain, Maryam Saleem, Nauman Naseer, Samina Tabussam, Atif Aziz y Saeed Ullah. "Evaluation of Srivastava index to distinguishing Beta-Thalassemia Trait from Iron Deficiency". Pakistan Journal of Medical and Health Sciences 16, n.º 5 (30 de mayo de 2022): 1225–27. http://dx.doi.org/10.53350/pjmhs221651225.
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Objective: To assist in the differential diagnosis of beta thalassemia trait and iron deficiency anaemia, many alternative red blood cell index-based formulae were examined. Methods: The Rawalpindi PEMH performed this study from June 2021 to March 2022. For individuals with beta- thalassemia trait and iron deficient anaemia, age and gender were not considered. More than five millilitres of blood were drawn from each patient in order to determine the haemoglobin content, the number of red blood cells, how they were distributed, and the average cell volume. Five alternative formulas may be used to differentiate these two circumstances. Shine and Lal index, Mentzer index, Srivastava index and Green & King index are among the most well- known ones. Youden's index was included in the calculation of sensitivity, specificity, and positive and negative predictive values (PPVs). Results: The iron deficiency anaemia rate was 70%, and the beta thalassemia phenotype was 30% among the 1500 participants. This indicator has a sensitivity of 100% and specificity of 93.3% when it comes to discriminating between beta-thalassemia trait and iron deficiency anaemia. Conclusion: The red cell distribution width index may be used to differentiate between beta thalassemia trait and iron deficiency anaemia. If a haemoglobin electrophoresis is not available, a diagnosis of beta thalassemia may still be made. Keywords: Srivastava index, beta-thalassemia, Anemia, Cell redness, Hb electrophoresis
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Premawardena, A. P., T. Malewana, M. Arambepola, N. F. Olivieri y D. J. Weatherall. "Reappraisal of Symptoms and Signs of Uncomplicated Beta Thalassemia Trait." Blood 104, n.º 11 (16 de noviembre de 2004): 3788. http://dx.doi.org/10.1182/blood.v104.11.3788.3788.
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Abstract Although considered a mild disorder, beta thalassemia trait (uncomplicated by any other hematologic abnormality) has been reportedly associated with symptoms of anemia, while in other series hepatosplenomegaly has been reported as associated with this diagnosis. No controlled study has examined the symptoms and signs of individuals with beta thalassemia trait and compared these with age- and sex-matched normal individuals. We administered a questionnaire to 397 parents (67% females) of children with beta thalassemia major attending the National Thalassemia Centre in Kurunagala, Sri Lanka, and to 87 normal volunteers (90% females). All individuals underwent physical examination by the same investigator, as well as testing by automated cell counter (Coulter), and HPLC (Bio Rad). The mean age of the parents (33 years) and controls (29.5 years) was not significantly different. In parents with thalassemia trait, 20% of males and 42% of females complained of reduced exercise tolerance compared to 12.5% of males and 38% of females in the controls (P= NS). The questionnaire revealed that 41% of parents, and 36% of controls, complained of recurrent headache; 18% of parents, and 15% of controls, complained of lethargy (P=NS). A history of malaria infection was reported in 30% of parents with thalassemia trait, and in 24% of controls. Mean quality-of-life score, recorded formally by a linear analog scale, from 0 (poorest) to 10 (greatest) was 7.1 in parents and 7.2 in controls. Splenomegaly was detected in 6% of parents with beta thalassemia trait (mean spleen size 1.5 cm below the costal margin), and 5% of normal controls (mean spleen size 1 cm below the costal margin). These findings suggest that, by contrast to many reports in the older literature, in uncomplicated beta thalassemia trait there appears to be no symptoms or signs greater than those observed in a normal control population and that fatigue, lethargy, exercise intolerance, or splenomegaly in a patient with beta thalassemia trait should not be attributed to the underlying hemoglobinopathy.
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Barella, Susanna, Ramon Simon-Lopez, Nicola Di Gaetano y Renzo Galanello. "Beta Thalassemia Trait: How the New Information Provided by the Routine Hematology Analysers May Help in Its Differential Diagnosis or Flagging". Blood 120, n.º 21 (16 de noviembre de 2012): 5186. http://dx.doi.org/10.1182/blood.v120.21.5186.5186.
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Abstract Abstract 5186 Introduction: Beta Thalassemia (β-thalassemia) is one of the more common hemoglobinopathies worldwide, being the heterozygous variant, called Beta Thalassemia Trait, a benign variant, but important to diagnose, for genetic counseling, trying to avoid the homozygous variant, called major. Diagnostic of Beta Thalassemia Trait: Classic testing for β-thalassemia includes: hematologic testing of red blood cell indices, peripheral blood smear (prewsence of target cells and RBC with basophilic stippling, etc.), and qualitative and quantitative hemoglobin analysis. Have been proposed too Discriminant functions, like the one published many years ago, by England and Fraser. Objective: Recently have been developed new parameters and information in the new automated hematology analyzer called DxH8008™ from Beckman Coulter as @MSCV, @RSF, @MAF, @ LHD% and many morphological parameters for RBC and Reticulocytes calles Cell Population Data. All this parameters may be used to create flagging for laboratory use only (LUO) or Research use only (RUO). The purpose of this study is to investigate the possible use or utility of this new information for the screening/flagging of Beta Thalassemia Trait. Patient and Methods: We have collected 30 patients with Beta Thalassemia Trait. All of them were confirmed by red cell morphology, Hgb Electroforesis, cromatography in liquid phase in human whole blood for the determination of Hemoglobin A2, F, A1c, and identification of abnormal hemoglobins and DNA analysis (DNA Analysis by GAP-PCR). We have compared these patients with a control group (184 individuals) and with other anemias (see Table 1). Results: Using ROC analysis, the best parameters differentiating the Beta Thalassemia Trait from the normals were: MCV (AUC 1. 000), MRV (AUC 0. 999), @MAF(AUC 0. 999), @MCNRET (AUC 0. 997), RDW (AUC 0. 957), HGB (AUC 0. 915), RBC(AUC 0. 912). Using ROC analysis, the best parameters differentiating the Beta Thalassemia Trait from other anemias (excluding normals) were: RDW-SD (AUC 0. 937), DF Eng-Fra (AUC 0. 779), RDW (AUC 0. 766), RBC (AUC 0. 734) Disclosures: Simon-Lopez: Beckman Coulter: @LHD, @MAF, @RSF, @LHD, @MAF, @RSF Patents & Royalties, Employment. Di Gaetano:Instrumentation Laboratory spa: Work for a distributor of Beckman Coulter Instruments in Italy Other. Galanello:Ferrokin: Research Funding; Apopharma: Research Funding, Speakers Bureau; Novartis: Research Funding, Speakers Bureau.
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Rashid, Nasir, Almas Raza, Syed Zeeshan Haider Naqvi y Sheema Khan. "Frequency of Fetal Hemoglobin Level in Siblings of Betathalassemia Major patients". Pakistan Journal of Medical and Health Sciences 16, n.º 7 (30 de julio de 2022): 186–87. http://dx.doi.org/10.53350/pjmhs22167186.
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Aim: To see the frequency of fetal haemoglobin level in siblings of beta thalassemia major (BTM) patients. Study population: A total of 400 subjects were included. Grouping: Group A includes normal siblings of BTM cases, B includes beta thalassemia trait (BTT) siblings of BTM cases and group C were healthy controls. Selection criteria: Asymptomatic siblings of diagnosed cases of beta thalassemia major were included. Patients with history or diagnosis of any acute or chronic illnesses were excluded from the study. 5 ml of blood was taken in EDTA vial and used for haemoglobin electrophoresis. Results: In 200 cases, 78% (156) were beta thalassemia trait (BTT) siblings and fetal Hb was also more in BTT siblings i.e. Group B. Conclusion: Fetal haemoglobin (HbF) was increased in BTT siblings (group B) of BTM cases. Keywords: Hb electrophoresis, fetal Hb, beta thalassemia major
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Moustafa, Amal Zaghloul, Reem A. Almalki, Esra’a I. Qhashgry, Raghad A. Qari, Zulfa S. Anwar, Ahlam M. Alfahmi, Sarah M. Fageeh, Dalal Hendawy y Rania Balkhair. "Prevalence of hemoglobin abnormality in the premarital screening Saudi population in Makkah city in a cross-sectional study Abstract". Saudi Medical Horizons Journal 2, n.º 1 (3 de abril de 2022): 17–25. http://dx.doi.org/10.54293/smhj.v2i1.25.
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Background: Thalassemia and hemoglobinopathies have significant complications on the children's health. Also, they have a higher cost for treatment. The prevalence of these diseases differs from one area to another in Saudi Arabia. Aims: To detect the different hemoglobin abnormality and their frequency in the premarital population in Makkah city. Methods: A cross-sectional study was conducted, which included 473 subjects who attended the premarital screening tests at the maternity and children Hospital laboratory and Heraa hospital. We were collected the data of the complete blood count, hemoglobin electrophoresis, and iron profile from the participants. The statistical analysis was performed by SPSS program version 20. Results: 74.8% of the participants were normal, 9.3% had iron deficiency anemia (IDA), 6.3% were suspected to be alpha thalassemia trait, 3.4% had sickle cell trait, 3% were polycythemia, 1.5% had hereditary persistence fetal hemoglobin (HPFH), 1.1% were IDA with thalassemia trait, 0.4% were beta thalassemia trait, 0.2% had hemoglobin E trait. Conclusion: thalassemia trait and hemoglobinopathies are present in the premarital population in Makkah city at a low prevalence. The highest frequency was for the alpha thalassemia trait, then sickle cell trait, then HPFH, then beta-thalassemia trait, and lastly, hemoglobin E trait. IDA is present at a high frequency. Education to the population is essential to decrease the prevalence of these disorders.
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Sharma, Hidangmayum Dwijaraj, Konsam Biona Devi, Pravin Kumar, Ksh Birendra Singh, Diamond Princy J. y Rajesh Boini. "Pattern of hemoglobinopathies and thalassemia in Manipur, India". International Journal of Advances in Medicine 7, n.º 3 (24 de febrero de 2020): 474. http://dx.doi.org/10.18203/2349-3933.ijam20200661.
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Background: Hemoglobinopathies are the commonest genetic disorders worldwide. Thalassemia Major, Thalassemia Intermedia and Sickle Cell Disease are the major disorders that require lifelong management and are to be considered for prevention. In India, Beta-Thalassemia is prevalent across the country, with an average frequency of carriers being 3-4%.Methods: This is a cross sectional study conducted between June 2016 - May 2017 in the Department of Medicine, RIMS Imphal in 453 patients as a workup for anemia and clinically suspected cases of Hemoglobinopathy or beta thalassemia. Blood samples were collected and sent for Haemoglobin Electrophoresis using cellulose alkaline technique.Results: Among the 453 cases of the population surveyed, 35% showed the presence of abnormal hemoglobin. 16% were found to be beta thalassemia carrier, 11.69% HbE trait, 6.62% Homozygous HbE, 0.4% beta thalassemia and 0.7% had Hereditary persistence of HbF.Conclusions: High prevalence of Beta Thalassemia trait occurred more frequently than other Hemoglobinopathies. The study concludes that it is immensely important epidemiologically to explore the haemoglobin variants in Manipur so that the carriers can be detected for prevention of more serious disorder in the future generations.
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Lima, Carmen Silvia Passos, Aparecida Ribeiro de Carvalho Reis, Helena Zerlotti Wolf Grotto, Sara Teresinha Ollala Saad y Fernando Ferreira Costa. "Comparison of red cell distribution width and a red cell discriminant function incorporating volume dispersion for distinguishing iron deficiency from beta thalassemia trait in patients with microcytosis". Sao Paulo Medical Journal 114, n.º 5 (octubre de 1996): 1265–69. http://dx.doi.org/10.1590/s1516-31801996000500005.
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The red cell distribution width (RDW), and another red cell discriminant function incorporating RDW (MCV² x RDW/Hgb x 100) were determined in a group of 30 patients with iron deficiency anemia, 30 patients with beta thalassemia trait, and 30 normal subjects. Both RDW and (MCV² x RDW/Hgb x 100) mean values were significantly higher in iron deficiency anemia than in beta thalassemia trait (p<0.001). Taking RDW equal or above 21.0 percent among microcytic anemia patients, we identified correctly 90.0 percent of patients with iron deficiency anemia. The sensitivity and specificity of the test were 90.0 percent (IC 95 percent: 0.75 - 0.96) and 77.0 percent (IC 95 percent: 0.60 - 0.88), respectively. RDW values below 21.0 percent identified correctly 77.0 percent of beta thalassemia trait with a sensitivity and a specificity of 77.0 percent (IC 95 percent: 0.60 - 0.88) and 90.0 percent (IC 95 percent: 0.75 - 0.96), respectively. Taking values of (MCV² x RDW/Hgb x 100) above and below 80.0 percent as indicative of iron deficiency and beta thalassemia trait, respectively, we identified correctly 97.0 percent of those patients in each group. Both sensitivity and specificity were 97.0 percent (IC 95 percent: 0.84 - 0.99). These results indicated that the red cell discriminant function incorporating volume dispersion (MCV² x RDW/Hgb x 100) is a highly sensitive and specific method in the initial screening of patients with microcytic anemia and is better than RDW in differentiating iron deficiency anemia from beta thalassemia trait.
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Shilpa, TA, MNarayana Swamy y Stephen Benny. "Systemic lupus erythematosus and beta-thalassemia trait". APIK Journal of Internal Medicine 8, n.º 1 (2020): 22. http://dx.doi.org/10.4103/ajim.ajim_10_19.
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Kashinkunti, Mohan D. y Radhika Acharya. "Beta Thalassemia Trait among Antenatal Mothers and Those with Microcytic Anaemia". Journal of Evidence Based Medicine and Healthcare 8, n.º 28 (12 de julio de 2021): 2503–8. http://dx.doi.org/10.18410/jebmh/2021/463.
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BACKGROUND Among microcytic hypochromic anaemias, the most common disorders are iron deficiency anaemia (IDA) and co-pathological conditions such as α- or βthalassemia (α- or β- thalassemia) traits. Thalassemia minor is often an asymptomatic carrier state but exhibit marked microcytosis that can be mistaken for iron deficiency. About 1.5 % of the global population (80 to 90 million people) are carriers of thalassemia and more than 200 mutations are described in thalassemia, the only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. The purpose of this study was to estimate the prevalence of beta thalassemia trait (BTT) in adult individuals with microcytic hypochromic anaemia and among antenatal mothers visiting the Obstetric Department of SDMCMSH. METHODS In this prospective descriptive study, 101 adult patients between 18 and 40 years who were in in-patient department (IPD) or attending out-patient department (OPD) from department of general medicine and department of haematology were studied during a period of one year from October 2018 to October 2019 and their blood sample was sent for complete blood count (CBC), iron studies and haemoglobin electrophoresis. All the data was entered in Microsoft Excel software and analysis was done using Minitab software. P value of less than 0.05 was considered statistically significant. RESULTS Out of the 101 microcytic hypochromic anaemia patients analysed, 7 patients have beta thalassemia trait. 4 of the 7 are females. Their haemoglobin electrophoresis report showed high HBA2 value of > 3.8. There were no carriers among the pregnant individuals tested. A regression model was fitted for predicting HBA2 based on values of serum iron, serum ferritin, and mean corpuscular volume (MCV). CONCLUSIONS In conclusion, identification of thalassemia gene mutations in our population is necessary because of the country’s multiracial population. This will prevent unnecessary treatment with iron supplements in thalassaemic patients and also helps in pregnant women to prevent thalassemia major children. Molecular genotyping provides a rapid and reliable method for identification of common, and unknown α - and β - gene mutations, which help to diagnose unexplained microcytosis and thus prevent unnecessary iron supplementation. We conclude that microcytosis due to thalassemia is common in north Karnataka. This illustrates the importance of adequate prenatal and laboratory investigation for these abnormalities. KEYWORDS Beta Thalassemia Trait, Microcytosis, Haemoglobin Electrophoresis, Antenatal Screening, Thalassemia
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Setiawan, Doni, Hendri Setiawan y Ary Nurmalasari. "Indeks Formula Eritrosit Untuk Uji Skrining Talasemia Beta Minor". Jurnal Analis Medika Biosains (JAMBS) 8, n.º 2 (27 de septiembre de 2021): 114. http://dx.doi.org/10.32807/jambs.v8i2.247.
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Erythrocyte indices have been used as the first indicator in screening for beta-thalassemia minor. However, iron deficiency in hemoglobinopathies can reduce the sensitivity of screening, and the spectrum of mutations of different hemoglobinopathies between populations will result in discontinuation of the results of different erythrocyte indices. The research objective in this study was to determine the description of the erythrocyte indices used to screen for beta-thalassemia trait in Ciamis. The research method used in this study was a quantitative descriptive, using a cross-sectional study, data collection had been done during March-May 2021. The subjects of this study were 104 parents of a beta-thalassemia trait who have children with a beta-thalassemia major in Ciamis. The examination parameters used were complete blood count, with processing twenty-six erythrocyte formula index values. Ninety-two respondents were included in the inclusion criteria. The results of the erythrocyte indices in beta-thalassemia trait are England and Fraser, RBC, Mentzer, Srivastava, Shine and Lal, Ricerca, Green and King, Das Gupta, Jayabose, Telmissani-MCHD, Telmissani-MDH, Huber-Herklotz, Kerman I, Kerman II, Sirdah, Ehsani, Keikhaei, Nishad, Wongprachum, Sehgal, Pornprasert, Sirachainan, Bordbar, Matos and Carvalho and CRUISE has cut-off value in that range according to previous studies. Only the Bessman erythrocyte indices has a value of 17, exceeding the cut-off. Twenty-five erythrocyte indices with cut-off value according to previous studies can be used for beta-thalassemia screening in Ciamis, except for the Bessman erythrocyte indices.
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Szeto, Yim y Charlton Chan. "Association Between Thalassemia and Leucocytic DNA Damage: A Pilot Study". Journal of Basic and Applied Research in Biomedicine 7, n.º 1 (8 de junio de 2021): 29–31. http://dx.doi.org/10.51152/jbarbiomed.v7i1.211.
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Objectives: Thalassemia with frequent blood transfusion was considered under oxidative stress because of the chance of iron overload. Patients with thalassemia trait with no blood transfusion might also suffered from oxidative stress because of increased iron metabolism. This pilot study was to investigate if patients of alpha or beta thalassemia trait and received no blood transfusion were suffered from oxidative stress in term of DNA damage in peripheral leucocytes. Method: Comet assay was used to measure DNA damage of 20 normal subjects, 8 alpha and 12 beta thalassemia patients who did not received blood transfusion. The baseline and UV-mediated DNA damages of peripheral white blood cells were measured. The degree of DNA damage was quantified by visual scoring under light microscope after staining with Giemsa stain. Results: The mean (± standard deviation) comet score for normal baseline samples was 8.3 ± 6.1 whereas 105.4 ± 15.7 and 69.8 ± 20.3 for alpha and beta thalassemia respectively. While the comet scores were 71.9 ± 19.6, 193.1 ± 21.8 and 211.8 ± 51.6 for normal, alpha and beta thalassemia samples respectively in UV-treated samples. Results showed that both alpha and beta thalassemia patients had higher leucocytic DNA damage in baseline and oxidative stressed samples. Conclusion: Our data suggested thalassemia patients were under oxidative stress even no iron over loaded through transfusion.
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Bierman, Kaitlin, Harold M. Maurer y James Harper. "Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH) Determinations in Newborns with Beta Thalassemia". Blood 132, Supplement 1 (29 de noviembre de 2018): 4904. http://dx.doi.org/10.1182/blood-2018-99-110991.
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Abstract Newborns with alpha thalassemia trait have microcytic red blood cells (RBCs) used as a diagnostic screening tool at birth. Infants with beta thalassemia present with microcytosis sometime during the first year of life; however, whether microcytosis is present in newborns is unknown. In this study, we determined the MCV and MCH values in newborn infants, who have beta0 thalassemia major, intermedia, and minor by performing a retrospective study, with IRB approval. 189 eligible patients seen by the hematology/oncology group of 10 physicians at Children's Hospital Medical Center (CHMC) and UNMC were reviewed. Patients were identified by International Classification Codes-10 (56.1, 56.3, 57.3, 57.4). Of the 189 eligible patients with beta thalassemia major, intermedia, minor, and sickle cell trait (used as controls), there were 28 evaluable and 161 non-evaluable patients. The non-evaluable patients had either the wrong diagnosis (coexisting alpha thalassemia trait) (68) or no laboratory data within the newborn period or up to 6 months of age (93). A second control group used were normal complete blood count (CBC) values by age from the Pathology Laboratory at CHMC. Of the 28 evaluable infants, 5 had beta0 thalassemia major, 2 had sickle-beta+ thalassemia (regarded as intermedia for this study), 7 had beta thalassemia minor, and 14 had sickle cell trait. The diagnosis in each of the 28 infants was confirmed by newborn screening for a hemoglobinopathy and hemoglobin electrophoresis sometime after birth. The MCV, MCH, mean corpuscular hemoglobin concentration (MCHC), hemoglobin (hgb), hematocrit (hct), and red blood cell count (RBC) were taken on evaluable patients within the newborn period through 6 months of age and de-identified using the Safe Harbor Method. MCV and MCH were found to be reduced in newborns with beta0 thalassemia and sickle-beta+ thalassemia. However, infants with beta thalassemia minor had normal MCV and MCH values. The MCHC, RBC, hgb, and hct were comparable to controls and within normal limits. By 3-4 months of age, in the infants with beta thalassemia major or intermedia, the MCV and MCH fell to clinically characteristic levels when compared to controls, and plateaued through 6 months of age. MCV and MCH values for infants with beta thalassemia minor, 0-6 months of age, were incomplete to be able to draw a similar conclusion. The proposed mechanism for microcytosis in major and intermedia is an imbalance between alpha and beta globin chain synthesis, which is not apparent in newborns with minor. In conclusion, the MCV and MCH can be used to screen for beta0 thalassemia major and intermedia in newborns. Although the data are discriminating despite the small numbers, a prospective study should confirm these findings. Figure. Figure. Disclosures No relevant conflicts of interest to declare.
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Liebhaber, SA, FE Cash y DB Cornfield. "Evidence for posttranslational control of Hb C synthesis in an individual with Hb C trait and alpha-thalassemia". Blood 71, n.º 2 (1 de febrero de 1988): 502–4. http://dx.doi.org/10.1182/blood.v71.2.502.502.
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Abstract The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting alpha- thalassemia. This relationship may result from the higher affinity of beta A than beta C for limiting amounts of alpha-globin during hemoglobin assembly. This mechanism would predict that the beta A and beta C synthetic capacity in alpha-thalassemic individuals with Hb C trait should be balanced despite the low levels of Hb C in their circulating erythrocytes. To directly test this prediction, we have measured the beta A and beta C synthetic capacity of reticulocyte RNA isolated from two individuals with Hb C trait, one with a normal alpha- globin genotype and one with alpha-thalassemia. The balanced expression of beta A and beta C in both cases supports the proposed posttranslational control over Hb C expression.
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Liebhaber, SA, FE Cash y DB Cornfield. "Evidence for posttranslational control of Hb C synthesis in an individual with Hb C trait and alpha-thalassemia". Blood 71, n.º 2 (1 de febrero de 1988): 502–4. http://dx.doi.org/10.1182/blood.v71.2.502.bloodjournal712502.
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The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting alpha- thalassemia. This relationship may result from the higher affinity of beta A than beta C for limiting amounts of alpha-globin during hemoglobin assembly. This mechanism would predict that the beta A and beta C synthetic capacity in alpha-thalassemic individuals with Hb C trait should be balanced despite the low levels of Hb C in their circulating erythrocytes. To directly test this prediction, we have measured the beta A and beta C synthetic capacity of reticulocyte RNA isolated from two individuals with Hb C trait, one with a normal alpha- globin genotype and one with alpha-thalassemia. The balanced expression of beta A and beta C in both cases supports the proposed posttranslational control over Hb C expression.
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Kumar, Santosh, Deepa Singh y Abhay Garg. "An epidemiological study on the clinico-hematological profile of pediatric patients with congenital hemolytic anemia". International Journal of Contemporary Pediatrics 4, n.º 2 (22 de febrero de 2017): 374. http://dx.doi.org/10.18203/2349-3291.ijcp20170021.
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Background: Among the inherited disorders of blood, haemoglobinopathy and thalassaemia constitute a major bulk of congenital hemolytic anemia in India.Methods: The present cross sectional study was conducted on pediatric patients aged 0-15 years admitted in pediatric ward of Department of Pediatrics, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India between December 2015 to November, 2016. The data on socio-demographic profile, relevant clinical history and examination and hematological parameters were assessed. Results: Out of 211 patients evaluated, most common cause of congenital hemolytic anemia was Hb E Beta thalassemia (39.8%), followed by beta thalassemia (27.9%), beta thalassemia trait (14.2%), Hb E disease (11.3 %) and Hb E trait (6.6%). There was male preponderance (male 63%, female 37 %). The mean hemoglobin was found to be lowest in patients of β thalassemia (5.1 gm/gl) and HbE β thalassemia (5.8 gm/dl). The mean total serum bilirubin was found to be highest among β Thalassemia patients (3.0 mg/dl). Hepatomegaly was the most common clinical finding among the study population (57.8%), followed by splenomegaly (54.9%) and hemolytic facies and jaundice (both 53%).Conclusions: The incidence of HbE beta thalassemia is relatively high in comparison to other varieties of thalassemias and is a major public health problem in this area of the country.
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Parthasarathy, Veda. "A Search for Beta Thalassemia Trait in India". Turkish Journal of Hematology 29, n.º 4 (2012): 427–29. http://dx.doi.org/10.5505/tjh.2012.21703.
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Deb Nath, Jishu. "Familial Association of Gilberts and Beta Thalassemia Trait". Chattagram Maa-O-Shishu Hospital Medical College Journal 13, n.º 1 (1 de enero de 2014): 65–66. http://dx.doi.org/10.3329/cmoshmcj.v13i1.19425.
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A 21 yrs old male from Jatrabari, Dhaka became unfit to travel to Gulf, as his serum bilirubin was found 5.7 mg/dl. He was diagnosed to have Thalassemia trait along with Gilberts syndrome. His elder brother has also got similar diseases from age 14. Here both associations of these diseases with positive family history are highlighted.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i1.19425
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Ojeda, Mara J., Susana M. Perez, Karina L. Calvo, Arianna F. Pratti, María E. Voss, Angela C. Milani, Gustavo Chiappe, Beatriz Erramouspe y Irma M. Bragós. "Hemoglobin Interlaken in combination with beta thalassemia trait". Thalassemia Reports 3, n.º 1 (16 de enero de 2013): 3. http://dx.doi.org/10.4081/thal.2013.e3.
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Rauf, Shan-e., Ghassan Umair Shamshad, Fareeha Mushtaq, Saleem Ahmed Khan y Nadir Ali. "Diagnosing Beta Thalassemia trait in a developing country". Acta Haematologica Polonica 48, n.º 1 (enero de 2017): 18–22. http://dx.doi.org/10.1016/j.achaem.2017.01.001.
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Demir, A. "Serum Transferrin Receptor Levels in Beta-thalassemia Trait". Journal of Tropical Pediatrics 50, n.º 6 (1 de diciembre de 2004): 369–71. http://dx.doi.org/10.1093/tropej/50.6.369.
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Charoenboon, Chitrakan, Phudit Jatavan, Kuntharee Traisrisilp y Theera Tongsong. "Pregnancy outcomes among women with beta-thalassemia trait". Archives of Gynecology and Obstetrics 293, n.º 4 (17 de octubre de 2015): 771–74. http://dx.doi.org/10.1007/s00404-015-3908-6.
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Sari, Dian Puspita, Pustika Amalia Wahidiyat, Iswari Setianingsih, Ina S. Timan, Djajadiman Gatot y Aria Kekalih. "Hematological Parameters in Individuals with Beta Thalassemia Trait in South Sumatra, Indonesia". Anemia 2022 (5 de mayo de 2022): 1–6. http://dx.doi.org/10.1155/2022/3572986.
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Background. β-Thalassemia has a very wide clinical variation, depending on the severity of the patient’s condition. Individuals with β-thalassemia traits are usually asymptomatic; however, laboratory examination will show mild anemia with microcytic hypochromic erythrocytes morphology with wide variation depending on the genotype. This study was conducted to determine the reference value of hematological parameters and hemoglobin (Hb) analysis based on the phenotype of β-thalassemia (β0 and β+) and determine the differences of hematological characteristics between the two phenotypes. Methods. This cross-sectional study was conducted by evaluating the hematological parameters and Hb analysis of the β-thalassemia trait in the family of thalassemia patient population. The subjects were divided into β0 and β+. The subject with normal Hb analysis with or without iron deficiency was excluded. Results. A total of 203 subjects with thalassemia traits were included from the families of thalassemia patients, consisting of 101 subjects with β0-thalassemia, 82 subjects with β+-thalassemia, and the mutation had not been found in 20 subjects. There was a relationship in the mean/median of hematological parameters, HbA2 and HbF, between β0-thalassemia and β+-thalassemia ( P < 0.05 ). ROC for each hematological parameter, HbA2 and HbF, showed that the highest diagnostic value based on the area under the curve was mean corpuscular hemoglobin (MCH) (0.900) and mean corpuscular volume (MCV) (0.898). The cutoff point of MCH for β0-thalassemia trait was ≤20.5 pg (sensitivity 85%, specificity 90%) and MCV was ≤66.8 fL (sensitivity 87%, specificity 87%). Conclusion. MCH values can be used as a screening tool for predicting β0-thalassemia in the relatives of thalassemia patients in the South Sumatra population.
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Meshram, Pravin M., Hemant R. Kokandakar y Rajan S. Bindu. "Study of blood indices and high performance liquid chromatography (HPLC) in differentiation of β-thalassemia trait and iron deficiency anaemia". International Journal of Research in Medical Sciences 5, n.º 11 (27 de octubre de 2017): 4728. http://dx.doi.org/10.18203/2320-6012.ijrms20174666.
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Background: Iron deficiency anemia (IDA) and beta thalassaemia trait (BTT) are two of the most common causes of microcytic anemia.It is essential to differentiate between the two, so as to avoid unnecessary iron therapy which is contraindicated in beta thalassaemia .We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and 𝛽-TT in the same patient groups .Methods: A total of 200 patients were evaluated. We calculated 6 discrimination indices in all patients with anemia or suspected beta thalassemia. None of the subjects had combined IDA and 𝛽-TT. The patient groups were evaluated according to the Mentzer, Shine and Lal, England and Fraser,Srivastava, Green and King, Ricerca.Results: According to percentage correctly diagnosed criteria, Ricerca and Mentzer index are considered as the two best discrimination indices in differentiation between β thalassemia trait and iron deficiency anaemia .Youden’s index showed the following ranking with respect to the indices’ ability to distinguish between 𝛽-TT and IDA, Ricerca index > Mentzer index > Green and King index > Srivastava index > Shine and Lal index > England and Fraser index.Conclusions: Ricerca and Mentzer index are considered as the two best discrimination indices in differentiation between β thalassemia trait and iron deficiency anaemia.Keywords: Iron deficiency anemia (IDA) and beta thalassaemia trait (𝛽-TT)
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Kurutaş, Ergul Belge, Mehmet Emrah Aksan, Petek Curuk y Mehmet Akif Curuk. "Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report". Folia Medica 63, n.º 5 (31 de octubre de 2021): 697–703. http://dx.doi.org/10.3897/folmed.63.e55627.
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Background: Beta thalassemia is one of the most common autosomal single-gene disorders in the world. The prevalence of the disease is in the “thalassemia belt” which includes the Mediterranean region of Turkey; throughout the country the gene frequency is estimated to be 2.1%, but in certain regions, this figure increases to 10%. Aim: In this first study, we aimed to determine the frequency of β-thalassemia trait and distrubition of mutations in Kahramanmaraş province, which is located in the southern part of Turkey. Materials and Methods: In this study; 5 ml blood samples was taken from 14 thalassemic patients and their relatives who were taking care of Sutcu Imam University Hospital at Kahramanmaraş. Also, we collected blood samples from 245 adults for screening beta thalassemia trait. Haematological data were obtained by cell counter. HbA2 was determined by HPLC. Ten common mutations were screened by ARMS (Amplification Refractory Mutation System) method. These β-thalassemia mutations are -30 (T>A), Fsc8 (-AA), Fsc8/9 (+G), IVS1-1 (G>A), IVS1-5 (G>C), IVS1-6 (T>C), IVS1-110 (G>A ), Cd 39 ( C>T), IVS2-1 (G>A), IVS 2-745 (C>G). A rare mutation; Fsc44 (-C) was charecterized by DNA sequencing. Results: Ten patients were detected as homozygous for IVS1-110 (seven cases), Fsc 44 (two cases) and IVS1-5 (only one case). Rest of the 4 patients were double heterozygous (two: IVS1-110/IVS1-6, one: Fsc8/Fsc8-9, one: IVS2-1/IVS1-5). In 245 adult, five β-thalassemia trait were detected by screening survey. Conclusion: Sixteen alleles were detected as IVS1-110 in 57.1%. It was seen the most common mutation in Kahramanmaraş. Seven different β-thalassemia mutations were found in this study. Each of 10 families have only one thalassemic patient, other two families have double thalassemic patient in total 12 family.
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Gopchade, Dr Ajeet. "Mentzer Index for Differential Diagnosis of Iron Deficiency anaemia and Beta Thalassemia Trait". Journal of Medical Science And clinical Research 04, n.º 12 (19 de febrero de 2017): 15138–42. http://dx.doi.org/10.18535/jmscr/v4i12.135.
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Verma, Sarika, Ruchika Gupta, Madhur Kudesia, Alka Mathur, Gopal Krishan y Sompal Singh. "Coexisting Iron Deficiency Anemia and Beta Thalassemia Trait: Effect of Iron Therapy on Red Cell Parameters and Hemoglobin Subtypes". ISRN Hematology 2014 (12 de marzo de 2014): 1–5. http://dx.doi.org/10.1155/2014/293216.
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Background. Coexistence of iron deficiency anemia (IDA) and beta thalassemia trait (BTT) has been the topic of few studies. However, no study from our country was found evaluating the effect of iron therapy in patients with concomitant IDA and BTT. Methods. Over a period of two years, 30 patients with concomitant IDA and BTT were included. All the patients had a complete blood count, serum iron studies, and thalassemia screening using BIORADTM hemoglobin testing system. The patients received oral iron therapy in appropriate dosages for a period of twenty weeks, after which all the investigations were repeated. Appropriate statistical methods were applied for comparison of pre- and posttherapy data. Results. All except two patients were adults with a marked female preponderance. Oral iron therapy led to statistically significant improvement in hemoglobin, red cell indices (P<0.05), and marked change in serum iron, ferritin, and HbA2 levels (P<0.001). There was a significant reduction in the total iron binding capacity levels. Conclusion. The present study shows the frequent occurrence of iron deficiency anemia in patients with beta thalassemia trait, which can potentially confound the diagnosis of the latter. Hence, iron deficiency should be identified and rectified in patients with suspicion of beta thalassemia trait.
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Warghade, Sandeep, Jyothi Britto, Reshma Haryan, Tejaswi Dalvi, Rajesh Bendre, Pratiksha Chheda, Sunmeet Matkar, Yogita Salunkhe, Milind Chanekar y Nilesh Shah. "Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases". Journal of Laboratory Physicians 10, n.º 01 (enero de 2018): 073–79. http://dx.doi.org/10.4103/jlp.jlp_57_17.
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Abstract CONTEXT: Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders. AIM: The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India. MATERIALS AND METHODS: A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The retention times, proportion of the hemoglobin (%) and the peak characteristics for all hemoglobin fractions were recorded. Molecular analysis of the beta-globin gene was carried out by DNA sequencing on eight cases. RESULTS: Total number of abnormal Hb fractions on cation exchange-HPLC (CE-HPLC) was seen in 12,131 (18.44%) cases. Beta-thalassemia trait was the predominant genetic Hb disorder accounting for 7377 cases (11.21%) of the total cases. This was followed by sickle cell trait (2.01%), sickle cell disease (1.59%), beta-thalassemia syndrome (0.80%), HbE trait (0.79%), and borderline HbA2 (0.51%). Molecular characterization of eight rare cases of hemoglobin variants by beta-globin gene sequencing identified three cases of Hb Beth Israel, two cases of Hb Hofu trait, and one case each of Hb J Cambridge, Hb Mizunami, and Hb Sherwood Forest. CONCLUSION: Superior resolution, rapid assay time, and accurate quantification make CE-HPLC suitable for the routine investigation of hemoglobinopathies.
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Jha, R. "Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography". Journal of Pathology of Nepal 5, n.º 10 (14 de septiembre de 2015): 850–58. http://dx.doi.org/10.3126/jpn.v5i10.15642.
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Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies. Cellulose acetate electrophoresis at alkaline pH and diagnosis based mainly on visual impression of thickness of band may miss the thalassemic trait patients. The aim of this study was to find out different hemoglobinopathies and thalassemia presenting in our hospital and to compare electrophoresis results with HPLC.Materials and Methods: This study was performed in the hematopathology section of Department of Pathology of Tribhuvan University Teaching Hospital on cases sent for electrophoresis during 18 months period from October 2013 to March 2015 and included hemoglobinopathies and thalassemias identified by either electrophoresis or HPLC. 97 cases fulfilled the inclusion criteria and thus were included in the study. Electrophoresis at alkaline pH was done in all whereas HPLC was performed in 27 cases.Results: A sharp peak of hemoglobinopathies and thalassemias was seen in Tharu community though other communities are also affected. Thalassemia trait was the most common diagnosis (26.8%) followed by sickle cell anemia (21.6%). Electrophoresis was efficient in detecting some alpha thalassemia variants but missed many cases of beta thalassemia trait.Conclusion: Beta Thalassemia trait and sickle cell anemia both are common in Nepal , along with some other hemoglobinopathies A sharp peak of hemoglobinopathies and thalassemias are seen in Tharu community. These abnormal hemoglobins and thalassemias are mainly seen in Terai region. Electrophoresis fails to quantify hemoglobin percentage and thus is not appropriate test in beta thalassemia screening.
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Ambayya, Angeli, Santina Sahibon, Thoo Wei Yang, Qian-Yun Zhang, Rosline Hassan y Jameela Sathar. "A Novel Algorithm Using Cell Population Data (VCS Parameters) as a Screening Discriminant between Alpha and Beta Thalassemia Traits". Diagnostics 11, n.º 11 (22 de noviembre de 2021): 2163. http://dx.doi.org/10.3390/diagnostics11112163.
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Thalassemia is one of the major inherited haematological disorders in the Southeast Asia region. This study explored the potential utility of red blood cell (RBC) parameters and reticulocyte cell population data (CPD) parameters in the differential diagnosis of α and β-thalassaemia traits as a rapid and cost-effective tool for screening of thalassemia traits. In this study, a total of 1597 subjects (1394 apparently healthy subjects, 155 subjects with α-thalassaemia trait, and 48 subjects with β-thalassaemia trait) were accrued. The parameters studied were the RBC parameters and reticulocyte CPD parameters derived from Unicel DxH800. A novel algorithm named αβ-algorithm was developed: (MN-LMALS-RET × RDW) − MCH) to discriminate α from β-thalassaemia trait with a cut-off value of 1742.5 [AUC = 0.966, sensitivity = 92%, specificity = 90%, 95% CI = 0.94–0.99]. Two prospective studies were carried: an in-house cohort to assess the specificity of this algorithm in 310 samples comprising various RBC disorders and in an interlaboratory cohort of 65 α-thalassemia trait, and 30 β-thalassaemia trait subjects to assess the reproducibility of the findings. We propose the αβ-algorithm to serve as a rapid, inexpensive surrogate evaluation tool of α and β-thalassaemia in the population screening of thalassemia traits in geographic regions with a high burden of these inherited blood disorders.
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Arora, Sheetal, Deepshikha Rana, Sujata Raychaudhuri y J. S. Dhupia. "Coexistence of iron deficiency and thalassemia trait: a study in antenatal females". International Journal of Research in Medical Sciences 5, n.º 12 (25 de noviembre de 2017): 5362. http://dx.doi.org/10.18203/2320-6012.ijrms20175455.
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Background: Thalassemia is most common genetic disorder worldwide and about 7% of world population is carrier. The prevalence of Beta thalassemia trait (BTT) is 3.5–10% in India. The National Family Health Survey (NFHS-3) of 2011 reveals the prevalence of iron deficiency anemia (IDA) as 70–80% in children, 70% in pregnant women, and 24% in adult men. As both of them are close differential diagnosis and both can coexist together, this study aims to detect hemoglobinopathies in pregnant women and quantify the effect of iron deficiency on HbA2 levels in order to improve the detection of β thalassemia trait with and without iron deficiency.Methods: Hb, RBC indices, and peripheral smears of 90 pregnant females with microcytic hypochromic blood picture were studied. Serum ferritin and HPLC (High Performance Liquid Chromatography) was performed. The results were analysed statistically by using SPSS version 16.0.Results: 93.3% patients had HbA2 <2%, 4.44% had >4.0% which characterise BTT and remaining 2.22% had between 3.0%-4.0%. HbA2 <2.0% may be seen in IDA, ATT, HbH disease and Delta thalassemia. 91.11% had reduced serum ferritin and 2.22% had normal ferritin levels.Conclusions: This study reveals that there is frequent occurrence of iron deficiency anaemia in patients with thalassemia traits. This can substantially invalidate the diagnosis of the latter. Hence, iron deficiency should be identified and rectified in patients with suspicion of thalassemia trait.
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K, Sudha, Prabhakaran N, Sowndarya K y Durga Rao. "Metalloprotein status in Indian patients with beta thalassemia trait". Biomedicine 42, n.º 3 (3 de julio de 2022): 474–77. http://dx.doi.org/10.51248/.v42i3.1427.
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Introduction and Aim: Beta Thalassemia trait (BTT) is the most prevalent heterozygous hemoglobinopathy in Asian population. The current study aims to evaluate plasma antioxidant metalloproteins like SOD, ceruloplasmin, ferritin and correlate them with the trace elements in patients with BTT. Materials and Methods: The subjects included in the study were divided into two groups comprising of 40 BTT patients in group I and 40 age and sex matched normal individuals in group II. Cation exchange HPLC was used for hemoglobin variant analysis. Plasma iron, copper, ceruloplasmin and SOD were assayed using the spectrophotometric method while zinc was determined by atomic absorption spectrometry and ferritin by ECLIA. Results: There was a marked reduction in plasma trace elements in BTT compared to healthy controls. The decrease in zinc (p<0.001) and copper (p<0.04) was statistically significant. Both SOD and ferritin levels were significantly lower in BTT patients (p<0.001). However, an apparent decrease was observed in ceruloplasmin levels. Iron and ferritin showed a significant positive correlation (r=0.84 p=0.01), similarly copper and ceruloplasmin correlated positively (r=0.92 p=0.001) in BTT patients. Interestingly HbF correlated negatively with all the three trace elements. Conclusion: It can be concluded that decreased antioxidant metalloproteins may lead to free radical toxicity in BTT. The study highlights the indirect role of trace elements in oxidative stress and draws attention on the requirement for regular and timely assessment of metalloenzymes and periodic administration of trace elements in reduction of free radical damage and associated complications in BTT patients.
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N, Prabhakaran, Sudha K, Reshma K y Durgarao Y. "PLASMA TRACE ELEMENT STATUS IN BETA-THALASSEMIA TRAIT PATIENTS". Asian Journal of Pharmaceutical and Clinical Research 12, n.º 1 (7 de enero de 2019): 232. http://dx.doi.org/10.22159/ajpcr.2018.v12i1.28922.
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Objective: The study aims to evaluate the plasma trace element status in beta-thalassemia trait (BTT) patients and demonstrate the correlation between trace elements and hemoglobin (Hb)-A1, HbA2, and HbF.Methods: The study population consisted of 20 normal individuals and 40 patients with BTT aged between 25 and 55 years of both the sex. Hemoglobin variant analysis was performed in blood samples using cation exchange high-performance liquid chromatography. Patients were labeled as beta-thalassemia trait only if they had HbA2 >3.5% or HbF >2.0%. Plasma zinc was estimated by atomic absorption spectrometry, copper by bathocuproine disulfonate method, and iron by ferrozine method spectrophotometrically. Data were analyzed statistically by Student’s t -test and Pearson’s correlation using software SPSS version 20. p<0.05 was considered statistically significant.Results: Plasma zinc and copper decreased significantly in BTT patients compared to healthy controls. There was an apparent decrease in plasma iron in these patients. Degree of decline in zinc (p<0.001) was much greater than that of copper (p<0.04). Moreover, there was significant elevation of copper-zinc ratio and iron-zinc ratio (p<0.001) in BTT patients compared to controls. Both HbA1 and HbA2 correlated positively with both copper and iron. Interestingly, HbF showed negative correlation with all the three trace elements in BTT patients.Conclusion: The study highlights marked deficiency of plasma trace elements, hence, the need for periodic assessment and prompt administration of these micronutrients to reduce the complications in BTT patients. Further, ratios are more valuable markers in the determination of trace element status than individual elements.
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N, Prabhakaran, Sudha K, Reshma K y Durgarao Y. "PLASMA TRACE ELEMENT STATUS IN BETA-THALASSEMIA TRAIT PATIENTS". Asian Journal of Pharmaceutical and Clinical Research 12, n.º 1 (7 de enero de 2019): 232. http://dx.doi.org/10.22159/ajpcr.2019.v12i1.28922.
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Objective: The study aims to evaluate the plasma trace element status in beta-thalassemia trait (BTT) patients and demonstrate the correlation between trace elements and hemoglobin (Hb)-A1, HbA2, and HbF.Methods: The study population consisted of 20 normal individuals and 40 patients with BTT aged between 25 and 55 years of both the sex. Hemoglobin variant analysis was performed in blood samples using cation exchange high-performance liquid chromatography. Patients were labeled as beta-thalassemia trait only if they had HbA2 >3.5% or HbF >2.0%. Plasma zinc was estimated by atomic absorption spectrometry, copper by bathocuproine disulfonate method, and iron by ferrozine method spectrophotometrically. Data were analyzed statistically by Student’s t -test and Pearson’s correlation using software SPSS version 20. p<0.05 was considered statistically significant.Results: Plasma zinc and copper decreased significantly in BTT patients compared to healthy controls. There was an apparent decrease in plasma iron in these patients. Degree of decline in zinc (p<0.001) was much greater than that of copper (p<0.04). Moreover, there was significant elevation of copper-zinc ratio and iron-zinc ratio (p<0.001) in BTT patients compared to controls. Both HbA1 and HbA2 correlated positively with both copper and iron. Interestingly, HbF showed negative correlation with all the three trace elements in BTT patients.Conclusion: The study highlights marked deficiency of plasma trace elements, hence, the need for periodic assessment and prompt administration of these micronutrients to reduce the complications in BTT patients. Further, ratios are more valuable markers in the determination of trace element status than individual elements.
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Beyan, Cengiz, Kürşat Kaptan y Ahmet Ifran. "Discrimination indices as screening tests for beta-thalassemia trait". Annals of Hematology 87, n.º 1 (11 de julio de 2007): 61–62. http://dx.doi.org/10.1007/s00277-007-0338-y.
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Odah Al-Musawi, Ali Habeeb, Hussein Mohammed Aziz, Safa Khudair y Tahreer Hadi Saleh. "Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq". Biomedicine 42, n.º 5 (14 de noviembre de 2022): 1040–43. http://dx.doi.org/10.51248/.v42i5.2280.
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Introduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients.
Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for mutations using sequence analysis tools.
Results: Molecular analysis revealed several mutations in the HBB gene including translocation, deletion and substitution mutations in the population tested positive for the beta -thalassemia trait.
Conclusion: Thalassemia major is a serious concern in southern Iraq and therefore this study emphasizes a need for complete mutation profiling of the beta -globin gene as a strategy for screening of carriers within the population. Such examinations could be useful in pre-marital genetic counseling and for undertaking prevention and treatment measures.
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Gadhia, Pankaj K., Salil N. Vaniawala y Tushar B. Kachhadiya. "Prevalence of beta thalassemia mutations in population of Gujarat using amplification-refractory mutation system–polymerase chain reaction". International Journal Of Community Medicine And Public Health 6, n.º 8 (26 de julio de 2019): 3294. http://dx.doi.org/10.18203/2394-6040.ijcmph20193443.
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Background: Beta thalassemia is the most common genetic disorder in India. Its trait, coinheritance and mutations vary from mild to severe condition, resulting in thalassemia minor (heterozygous), intermediate and major depending upon many factors. The objective of this study was to find out the prevalence rate and the carrier of beta thalassemia in population of Gujarat using molecular genetic analysis of beta thalassemia patients by targeted mutation assay (ARMS-PCR).Methods: A total 105 samples for beta thalassemia were analysed for IVS 1-5 (G→C) and CD 15 (G→A) mutations. These two common mutations of thalassemia in Gujarat were carried out using amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and gel electrophoresis method.Results: A total 105 samples referred to us for molecular genetic analysis. The occurrence of positive mutations of IVS 1-5 (G→C) and CD 15 (G→A) were found in 48 and 15 samples respectively. The rest were negatives.Conclusions: Present study concludes that the prevalence rate of Beta thalassemia was widespread among the Gujarat population. The identification of IVS 1-5 (G→C) and CD 15 (G→A) mutations was carried out. The analysis revealed that, mutational patterns of IVS 1-5 (G→C) was the most frequent among other mutations in Gujarat region.
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Pandey, Sanjay, Rahasya Mani Mishra, Sweta Pandey, Vineet Shah y Renu Saxena. "Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients". Sao Paulo Medical Journal 130, n.º 4 (2012): 248–51. http://dx.doi.org/10.1590/s1516-31802012000400008.
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CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northwestern India and usually present with mild hemolytic anemia and mild to moderate splenomegaly. The heterozygous form of Hb D is clinically silent, but coinheritance of Hb D with Hb S or beta-thalassemia produces clinically significant conditions like thalassemia intermedia of moderate severity. Under heterozygous conditions with coinheritance of alpha and beta-thalassemia, patients show a degree of clinical variability. Thus, our aim was to molecularly characterize the Hb D trait among individuals who were clinically symptomatic because of co-inheritance of alpha deletions or any beta-globin gene mutations. DESIGN AND SETTING: This was a cross-sectional study conducted in an autonomous tertiary-care hospital. METHODS: Complete blood count and red cell indices were measured using an automated cell analyzer. Quantitative assessment of hemoglobin Hb F, Hb A, Hb A2 and Hb D was performed by means of high performance liquid chromatography (HPLC). DNA extraction was done using the phenol-chloroform method. Molecular analyses on common alpha deletions and common beta mutations were done using the Gap polymerase chain reaction and Amplification Refractory Mutation System, respectively. RESULTS: We evaluated 30 patients and found clinical variation in the behavior of Hb D traits. In six patients, the Hb D traits were clinically symptomatic and behaved like those of thalassemia intermedia. Molecular characterization showed that three out of these six were IVS-1-5 positive. CONCLUSIONS: HPLC may not be the gold standard for diagnosing symptomatic Hb D Punjab traits. Hence, standard confirmation should include molecular studies.
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Bunyaratvej, A., P. Butthep, N. Sae-Ung, S. Fucharoen y Y. Yuthavong. "Reduced deformability of thalassemic erythrocytes and erythrocytes with abnormal hemoglobins and relation with susceptibility to Plasmodium falciparum invasion". Blood 79, n.º 9 (1 de mayo de 1992): 2460–63. http://dx.doi.org/10.1182/blood.v79.9.2460.2460.
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Abstract A number of genetically variant erythrocytes showed decreased deformability of both intact cells and membranes prepared therefrom as measured by laser diffractometry. Erythrocytes associated with minor or no clinical symptoms (eg, alpha-thalassemia traits, hemoglobin [Hb] E trait, Hb Constant Spring trait), which showed only a minimal decrease in deformability, were, in general, invaded efficiently by the malarial parasite Plasmodium falciparum. Other variant erythrocytes (beta- thalassemia/Hb E, homozygous Hb E, homozygous Hb Constant Spring, Hb H, Hb H/Hb Constant Spring) with low deformability showed different degrees of reduction in invasion susceptibility, most of which were less than proportional with deformability decrease. It is concluded that parasite invasion is only weakly related to gross cell deformability, which in turn depends on various factors other than membrane deformability.
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Bunyaratvej, A., P. Butthep, N. Sae-Ung, S. Fucharoen y Y. Yuthavong. "Reduced deformability of thalassemic erythrocytes and erythrocytes with abnormal hemoglobins and relation with susceptibility to Plasmodium falciparum invasion". Blood 79, n.º 9 (1 de mayo de 1992): 2460–63. http://dx.doi.org/10.1182/blood.v79.9.2460.bloodjournal7992460.
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A number of genetically variant erythrocytes showed decreased deformability of both intact cells and membranes prepared therefrom as measured by laser diffractometry. Erythrocytes associated with minor or no clinical symptoms (eg, alpha-thalassemia traits, hemoglobin [Hb] E trait, Hb Constant Spring trait), which showed only a minimal decrease in deformability, were, in general, invaded efficiently by the malarial parasite Plasmodium falciparum. Other variant erythrocytes (beta- thalassemia/Hb E, homozygous Hb E, homozygous Hb Constant Spring, Hb H, Hb H/Hb Constant Spring) with low deformability showed different degrees of reduction in invasion susceptibility, most of which were less than proportional with deformability decrease. It is concluded that parasite invasion is only weakly related to gross cell deformability, which in turn depends on various factors other than membrane deformability.
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Patil, Supriya, J. P. Laddha, R. R. Soni, Ashish Tayde y Ashish Patil. "STUDY OF SPECTRUM OF HEMOGLOBINOPATHIES IN ADULT AGE GROUP DIAGNOSED ON HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN TERTIARY CARE HOSPITAL". International Journal of Advanced Research 10, n.º 10 (31 de octubre de 2022): 1087–95. http://dx.doi.org/10.21474/ijar01/15584.
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Background: Inherited abnormalities of hemoglobin synthesis (hemoglobinopathies) include a myriad of disorders ranging from thalassemia syndromes to structurally abnormal hemoglobin variants. Aims and Objectives: To study spectrum of hemoglobinopathies in adult age group diagnosed on HPLC in tertiary care hospital. Materials and Methods: The present study carried out in the deparment of pathology , DR PDMMC AMRAVATI over a period of 18 months from january 2021 to june 2022. A total of 800 cases were included in the present study. The age group of patients ranged from 19 years and above. HPLC , complete blood count, and peripheral smear examination were done in all the cases. Results and Discussion: In the present study total 800 patients were included out of which 134 cases displayed abnormal hemoglobin fractions on HPLC. It was seen that majority of the patients in study were in the 19yrs to 30yrs. The most common hemoglobinopathy observed in the present study was sickle cell trait (51.50 %) followed by Beta Thalassemia trait (26.12 %) and Sickle cell disease (16.42 %).HbDpunjab trait was observed in 3.74 % cases. Sickle cell Disease + Beta thalassemia trait ,HbE trait, HbE homozygous were observed in 0.74% cases each. Conclusion: Detection of β-thalassemia carriers and other structural variants will provide a preliminary insight to the prevalence of hemoglobinopathies in hospital based patients.Awareness can be created in an effort to prevent the birth of affected children.The present study is intended to contribute to the available data as the identification of these disorders is important epidemiologically and aids in prevention of more serious hemoglobin disorders.
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Blutreich, Ahna M., Peihong Shu, Jeremy S. Bragdon, Paul J. Kurtin, James D. Hoyer y Gungor Karayalcin. "Ten Year-Old Male with Hemoglobin Lufkin/Beta-Zero Thalassemia Compound Heterozygote Who Exhibited Beta-Thalassemia Major Characteristics." Blood 106, n.º 11 (16 de noviembre de 2005): 3815. http://dx.doi.org/10.1182/blood.v106.11.3815.3815.
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Abstract Hemoglobin Lufkin is a rare and mildly unstable hemoglobin variant with increased oxygen affinity. Since 1977, two cases of hemoglobin Lufkin trait and one hemoglobin Lufkin/hemoglobin S have been described. This report is the first case of hemoglobin Lufkin/beta-zero thalassemia in a 10 year-old Caucasian male of Irish/Italian/German background. The patient presented with jaundice, splenomegaly and thalassemia major facies. On blood smear examination, RBC morphology showed hypochromia, microcytosis, many target cells, some spherocytes and basophilic stippling of RBC’s. On both alkaline hemoglobin (Hb) electrophoresis and isoelectric focusing (IEF) there was an absence of Hb A with a predominant band slightly anodal to the Hb A position. Hb A2 (4.8%)and Hb F (5.3%) were elevated as measured by high performance liquid chromatography. The heat unstable Hb test was abnormal. DNA sequencing of the beta globin gene confirmed a GCC to GAC mutation at codon 29 (gly to asp) consistent with Hb Lufkin. DNA sequence analysis also revealed a beta-zero thalassemia mutation, IVS-1-1, (G to A). The mother’s sample also showed the same beta-thalassemia mutation. Neither hemoglobin Lufkin nor beta-thalassemia were identified in the father; further studies are being done.