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Journal articles on the topic 'Thalassaemia intermedia; Haemoglobin'
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1
Shrestha, H. G., P. Hamal, B. K. Man Singh, N. Nakanishi, and D. T. Sada. "B-Thalassaemia: A Case Report." Journal of Nepal Medical Association 26, no. 4 (January 1, 2003): 39–43. http://dx.doi.org/10.31729/jnma.1652.
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A case report of B-thalassaemia intermedia was diagnosed in a 22 years women old Nepalese on the basis of the investigations of blood, bone marrow, haemoglobin electrophoresis and X-rays with clinical findings.
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Ashtiani, M. T. H., M. Monajemzadeh, A. H. Sina, F. Berenji, M. Abdollahi, M. G. Said, and M. Alam. "Prevalence of haemoglobinopathies in 34 030 healthy adults in Tehran, Iran." Journal of Clinical Pathology 62, no. 10 (September 25, 2009): 924–25. http://dx.doi.org/10.1136/jcp.2009.064568.
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Background:Haemoglobinopathies are a group of inherited disorders of haemoglobin synthesis. Their frequency varies considerably with geographic location and ethnic group.Aims:To establish the prevalence of haemoglobinopathies in a mainly healthy Iranian population.Methods:All files of the haematology unit of the Boghrat laboratory over a period of 10 years (1998–2007) were analysed in relation to the age, sex, full blood count, haemoglobin electrophoresis results, high performance liquid chromatography (HPLC) findings, and iron profile of healthy subjects referred for consultation before marriage. Other tests were performed if indicated.Results:There were 34 030 files; 13 432 (39.5%) were for men, and 20 567 (60.4%) for women. 0.74% of subjects (255) showed a haemoglobinopathy. The distribution of variant haemoglobins in these 255 subjects was: Hb D 75.67% (193 cases), Hb S 4.7%, Hb E 3.13%, Hb O-Arab 1.96% and Hb Lepore 0.39%. A fast haemoglobin was found in 4.71% of subjects. Of the subjects tested, 13.2% (4478) had β-thalassaemia minor, 0.2% (52) β-thalassaemia intermedia and 0.1% (30) β-thalassaemia major.Conclusions:In comparison with other parts of world, there is a different pattern of haemoglobinopathy with a high prevalence of Hb D, which appears to be Hb D Iran.
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Mannoor, Kaiissar, Mohabbat Hossain, Farjana Akther Noor, Golam Sarwer Bhuyan, and Syeed Saleheen Qadri. "Role of XmnI polymorphism in HbF induction in HbE/β and β-thalassaemia patients." Bangladesh Medical Research Council Bulletin 45, no. 3 (December 30, 2019): 133–42. http://dx.doi.org/10.3329/bmrcb.v45i3.44642.
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Background: Thalassaemia is one of the most common genetic blood disorders worldwide. Patients with β-thalassaemia major and HbE/β-thalassaemia are blood transfusion dependent. Foetal haemoglobin or HbF can play a role in disease manifestations in these patients and there is evidence that a homozygous state for XmnI polymorphic site, associated with increased expression of Gγ-gene, may play an important role among other factors in ameliorating the clinical severity of homozygous β-thalassaemia and thalassaemia intermedia. The aim of this review was to provide a comprehensive review of the role of XmnI polymorphic site for increased HbF production in HbE/β and β-thalassaemia patients.
Methods: Published literatures were reviewed on the allelic frequency of Xmn1 polymorphism and its effect on HbF induction among thalassaemia patients of different countries.
Results: In all β-thalassaemias, Hb F levels are relatively increased due to the selective survival of the erythroid precursors that synthesize relatively more γ-chains. The expression of HbF level is dominated by three different loci: HBG2: γ -158C>T, BCL11A, and HBS1L-MYB intergenic region. Genetic determinants influencing Hb F response can be within the β-globin complex or trans-acting. The published literature showed that the C>T substitution (rs7482144) at position –158 of the Gγ-globin gene, referred to as the XmnI-Gγ polymorphism, is a common sequence variant in all population groups, present at a frequency of 0.32 to 0.35. It was found in some studies, response to Hydroxyurea (HU) has been shown to be largely associated with the presence of the C>T polymorphism at -158 XmnI site (HBG2:c.- 53-158C>T) upstream of the Gγ-globin gene and HU therapy exerts a 2- to 9- fold increase in γ-mRNA expression in β-thalassaemia patients.
Conclusion: A number of various study groups around the world suggests that XmnI polymorphism is an important key regulator of disease severity of HbE/β and β-thalassaemia patients.
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Huang, Lv-Yin, and Dong-Zhi Li. "α-Haemoglobin pool measurement: a useful biomarker for evaluation of β-thalassaemia intermedia?" British Journal of Haematology 183, no. 4 (October 29, 2017): 673–74. http://dx.doi.org/10.1111/bjh.15008.
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Chang, Yen-Pei C., Roberto Littera, Raffaela Garau, Kirby D. Smith, George J. Dover, Sergio Iannelli, Enrico Cacace, and Licinio Contu. "The role of heterocellular hereditary persistence of fetal haemoglobin in β0 -thalassaemia intermedia." British Journal of Haematology 114, no. 4 (September 2001): 899–906. http://dx.doi.org/10.1046/j.1365-2141.2001.03042.x.
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Baldini, M., A. Marcon, R. Cassin, F. M. Ulivieri, D. Spinelli, M. D. Cappellini, and G. Graziadei. "Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications." BioMed Research International 2014 (2014): 1–5. http://dx.doi.org/10.1155/2014/174581.
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Objective. Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications inβ-TI adult patients.Methods. We studied retrospectively 70β-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) fromT2*, transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry.Results. Thirty-seven (53%) males and 33 (47%) females were studied, with mean age41±12years, mean haemoglobin9.2±1.5 g/dL, median ferritin 537 (range 14–4893), and mean LIC7.6±6.4 mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%).Discussion and Conclusions. Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development.
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Taher, Ali, Hussain Isma’eel, Ghassan Mehio, Daniela Bignamini, Antonis Kattamis, Eliezer Rachmilewitz, and Maria Cappellini. "Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran." Thrombosis and Haemostasis 96, no. 10 (2006): 488–91. http://dx.doi.org/10.1160/th06-05-0267.
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SummaryBeta-thalassaemia isa congenital haemolytic anaemia characterized by partial (intermedia, TI) or complete (major, TM) deficiency in the production of β-globin chains.The primary aim of this study was to determine the prevalence of thromboembolic events in patients with β-thalassaemia.To achieve this,a multiple-choice questionnaire was sent to 56 tertiary referral centres in eight countries (Lebanon, Italy, Israel, Greece, Egypt, Jordan, Saudi Arabia and Iran), requesting specific information on patients who had experienced a thromboembolic event.The study demonstrated that thromboembolic events occurred ina clinically relevant proportion (1.65%) of 8,860 thalassaemia patients (TI – 24.7% or TM – 75.3%) from the Mediterranean and Iran. Thromboembolism occurred 4.38 times more frequently in TI thanTM (p<0.001), with more venous events occurring inTI and more arterial events occurring in TM.Thrombosis in thalassaemia was also more common in females, splenectomized patients and those with profound anaemia (haemoglobin <9 g/dl). Due to the increased risk of thromboembolic events, the rationale for splenectomy should perhaps be re-assessed and the role of transfusion therapy for the prophylaxis of thrombosis, among other complications, be evaluated prospectively.
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Bagheri, Hadi, Fatemeh Rastgu, Eliezer Rachmilewitz, and Mehran Karimi. "Magnetic resonance imaging to determine the incidence of brain ischaemia in patients with β-thalassaemia intermedia." Thrombosis and Haemostasis 103, no. 05 (2010): 989–93. http://dx.doi.org/10.1160/th09-09-0661.
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SummaryOne complication in patients with β-thalassaemia who had prolonged survival is chronic hypercoagulable state, which results in thromboembolic events involving major organs including the brain. We determined the prevalence of microthrombosis in the brain in an asymptomatic subgroup of patients with β-thalassaemia intermedia (TI) who had undergone splenectomy. This retrospective review included 200 patients with TI diagnosed on the basis of blood count, haemoglobin (Hb) electrophoresis and clinical data. Their ages ranged from 18 to 34 years, 19 (63.3%) were women and 11 (36.7%) were men. We selected 30 patients at random who fulfilled the inclusion criteria: Hb concentration >7 g/dl), splenectomy and platelet count >500,000/ml. Their mean Hb concentration was 8.4 g/dl and their mean ferritin concentration was 519 ng/ml. Magnetic resonance imaging (MRI) was done in every patient, and the findings were interpreted by an expert neuroradiologist. Imaging studies showed pathological findings in 28% of the patients. Six had changes in the white matter suggestive of ischaemia and two had evidence of small infarctions. Conclusion: 1) In this small subset of patients diagnostic magnetic resonance imaging to monitor early asymptomatic or subclinical vascular damage in the brain can be considered when they reach the age of 20 years, and repeated every 3–5 years. 2) Treatment with antiplatelet aggregants is suggested in patients with documented asymptomatic brain ischaemia. 3) These results require confirmation in a larger group of similar patients with other types of thalassaemia who are multitransfused or have an intact spleen.
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Inati, Adlette, Mario Kahale, Susan P. Perrine, David H. K. Chui, Ali T. Taher, Suzanne Koussa, Therese Abi Nasr, Hussein A. Abbas, and Richard G. Ghalie. "A phase 2 study of HQK-1001, an oral fetal haemoglobin inducer, in β-thalassaemia intermedia." British Journal of Haematology 164, no. 3 (November 13, 2013): 456–58. http://dx.doi.org/10.1111/bjh.12635.
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Vasseur, Corinne, Frédéric Galactéros, and Véronique Baudin-Creuza. "α-Haemoglobin pool measurement: a useful biomarker for evaluation of β-thalassaemia intermedia? - response to Huang and Li." British Journal of Haematology 183, no. 4 (October 26, 2017): 671–73. http://dx.doi.org/10.1111/bjh.15007.
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Scott, Mark D., Philippe Rouyer-Fessard, Mariegme Soda Ba, Bertram H. Lubin, and Yves Beuzard. "α- and β-haemoglobin chain induced changes in normal erythrocyte deformability: comparison to β thalassaemia intermedia and Hb H disease." British Journal of Haematology 80, no. 4 (April 1992): 519–26. http://dx.doi.org/10.1111/j.1365-2141.1992.tb04567.x.
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Mayuranathan, Thiyagaraj, Janakiram Rayabaram, Reena Das, Neeraj Arora, Eunice Sindhuvi Edison, Alok Srivastava, and Shaji Velayudhan. "Molecular Basis Of (δβ)0 Thalassaemia and HPFH In Indian Population and The Role Of Non-Coding Transcripts In Increased Foetal Hemoglobin In Adults." Blood 122, no. 21 (November 15, 2013): 3446. http://dx.doi.org/10.1182/blood.v122.21.3446.3446.
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Abstract Hereditary persistence of fetal haemoglobin (HPFH) and (δβ)0-thalassaemia are conditions caused by large deletions of δ- and β-globin genes and are characterized by high fetal haemoglobin (HbF) in heterozygotes of these mutations. Complete characterization of these deletions is important for understanding the transcriptional and epigenetic mechanisms involved in increase in HbF levels by these mutations. Previous studies demonstrated that these large deletions remove the regulatory sequences which suppress γ-globin gene expression and increase the interaction of enhancers with γ-globin promoter. However, the exact mechanism for elevated HbF in these conditions and differences in HbF levels and phenotypes between (δβ)0-thalassaemia and HPFH still remains unclear. We screened 90 individuals from 51 families by gap-PCR for previously reported common deletions and by MLPA and quantitative fluorescent multiplex -PCR (QFM-PCR) for new deletions in the β-globin cluster. After identification of the approximate locations of the deletions by MLPA and QFM-PCR, we developed PCR strategies to amplify across the breakpoints and the products were sequenced to characterize the breakpoints. We identified six different deletions in Indian population. The frequencies of the previously reported common mutations, Asian inversion deletion and HPFH-3, were 46.66% and 24.44%, respectively. The rare mutations which were not found earlier in Indian population include 49.3kb deletion (12.22%) and 32.6kb deletion (10%). We found 2 novel deletions, 49.98kb deletion and 86.7kb deletion, which accounted 5.55% and 1.11%, respectively. The breakpoints of the 49.98kb deletion were found to be very close to those of HPFH-3 and this mutation was found in compound heterozygous with β-thalassaemia in a 8 year old boy with thalassaemia intermedia (Hb=8.8g/dL). Four heterozygotes in the family had mean MCV = 79.7fL (range: 76-85.6), mean HbF%= 26.9% (range: 23.3-33.0) and pancellular distribution of HbF suggesting that this mutation causes HPFH. The 86.7kb region encompassing Aγ-, δ-and β- globin genes was found in heterozygous state in one individual and it also had haematological parameters of HPFH (MCV=80.8fL and HbF=32.2%). To develop an experimental model to study the molecular mechanisms for elevated HbF in these conditions we established ex-vivo erythropoiesis system with the peripheral blood mononuclear cells obtained from patients with Asian inversion deletion and HPFH-3. Quantitative real time PCR (qPCR) showed increased expression of γ-globin transcripts in the cultured erythroid cells and chromatin immunoprecipitation (ChIP) of RNA Polymerase II (RNAPII) also showed increased transcriptional activation of γ-globin gene in the erythroid cells obtained from the patients with these mutations. To understand the roles of non-coding transcripts at the 5’ and 3’ breakpoints of the deletions in the transcriptional activation of γ-globin, we performed qPCR with the cDNA obtained from cultured erythroid cells using the primers that bind upstream and downstream of these breakpoints. The results showed that the level of BGL3, the noncoding transcript present near the 5’breakpoint, is enhanced by these deletions. We found activation of a novel non-coding transcript at the 3’ breakpoints and they were absent in the erythroid cells of normal individuals. ChIP also showed significant binding of RNAPII at the genomic regions from where these non-coding transcripts are produced. The role of non-coding transcripts has not been reported earlier as a mechanism for increased γ-globin transcription in HPFH and (δβ)0-thalassaemia. It is possible that these deletions remove the genetic elements that cause transcription repression of γ-globin gene in normal adults and they also cause activation of non-coding transcripts which change the epigenetic status of γ-globin gene resulting in its active transcription. To conclude, using QFM-PCRs we could perform a comprehensive study of (δβ)0-thalassaemia and HPFH in Indian population and detected rare and novel deletions that cause these conditions. Using ex-vivo erythropoiesis system which mimicked the pattern of globin gene expression in normal individuals and patients with globin gene mutations, we could identify the role of noncoding transcripts in increased HbF expression in the patients with HPFH and (δβ)0-thalassaemia. Disclosures: No relevant conflicts of interest to declare.
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Osman, Hani Yousif, Khaled al Qawasmeh, Sabir Hussain, Amar Lal, Arif Alam, and Jorgen Kristensen. "Iron Chelation Therapy of Thalassemia Patients Is Still a Challenge. Single Centre Experience from United Arab Emirates." Blood 132, Supplement 1 (November 29, 2018): 4908. http://dx.doi.org/10.1182/blood-2018-99-114601.
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Abstract Thalassemia is a group of complex haemoglobin disorders common in the Mediterranean countries, the Middle East and South East Asia1. Thalassemia is common in the United Arab Emirates (UAE) affecting indigenous population and the expatriates. The exact prevalence of thalassemia is not known. The management of thalassemia has improved significantly due to improvement in transfusion support and the management it's complications. This has led to the improvement of the overall survival and most patients reaching their adulthood2. Despite this some die at young age mainly due to poor access to health care2, proper management and lack of compliance to chelation therapy which leads to the development of otherwise preventable complications2. Blood transfusion is the corner stone of the management of patient with thalassemia major and intermediate3. Blood transfusion improves the anemia and its symptoms but also suppress the resultant ineffective erythropoiesis. This is usually started once the patient has signs and symptoms of anemia and unable to compensate for the low haemoglobin3. The aim of blood transfusion is to maintain good quality of life and to prevent the skeletal abnormalities2. Although blood transfusion is essential in the management of patients with thalassemia, it will ultimately lead to iron overload. In addition there is excess of gastrointestinal iron absorption in these patients, secondary to the ineffective erythropoiesis4. To reduce the iron absorption the target is to maintain the pre-transfusion hemoglobin level between 9 and 10 g/dl. Iron overload is major cause of mortality and morbidity in patient's thalassemia major and intermedia5. In this retrospective analysis we reviewed the ferritin levels over 1 year in 25 patients with thalassemia major or intermedia attending the adult hematology department at Tawam hospital The patients received regular blood transfusion once every three weeks. Of the 25 patients 16 were males and 9 were females. The age range was 15 years to 47 years. Nineteen patients had their chelation therapy changed during the year from Exjade (Deferasirox tablets for oral suspension) to Jadenu (Deferasirox tablets) which improved our patient's compliance. The remaining 6 patients continued on Exjade. In addition to this 17 patients received additional Desferral infusion in connection with their blood transfusion. None of the patient was on subcutaneous desferral infusion. During our observation two patients were lost to follow up and one patient died. The medium ferritin level for our evaluable patients was at start of the review 2488 mcg/l, with a range between 609 mcg/l to 5147 mcg/l. The medium ferritin level at the end was 1691 mcg/l with a range between 470 mcg/l to 3731 mcg/l. Figure 1 one shows the ferritin value a start and end of the review for each patient. Our patients with the highest ferritin levels are despite repeated counselling not compliant with their medications. Despite significant improvement in the management of thalassemia patients, iron overload remain a challenge. The main problems to achieving full control over the iron overload are lack of compliance. Hopefully the newest oral formulation will increase the compliance and at least we have seen a decrease in the ferritin levels over the last year in most patients. References. 1 De Dreuzy E, Bhukhai K, Leboulch P, Payen E Current and future alternative therapies for Beta Thalassemia major. Biomedical Journal 39, 124-38 2 Modell, B., Khan, M., and Darlison, M. Survival in beta thalassaemia major in the UK: Data from the UK Thalassaemia Register. Lancet 355 [2000]: 2051-2052. 3 Rebulla P, Modell B. Transfusion requirements and effects in patients with thalassaemia major. Cooleycare Programme. Lancet 1991;337:277-80 4 Gardenghi S, Marongiu MF, Ramos P, et al. - Ineffective erythropoiesis in beta- thalassemia is characterized by increased iron absorption mediated by down- regulation of hepcidin and up-regulation of ferroportin. Blood 2007; 109:5027-35 5 Porter, J.B., and Davis, B.A. Monitoring chelation therapy to achieve optimal outcome in the treatment of thalassaemia. Best Practice & Research: Clinical Haematology 15 [2002]: 329-368 6 Ayidinok Y, Kattamis A, Cappellini MD, et al. Deferasirox- Deferoxamine combination therapy reduces cardiac iron with rapid liver iron removal after 24 months in patients with severe transfusional iron overload (abstract). Haematologica 2014;99:229. Disclosures No relevant conflicts of interest to declare.
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Mukhopadhyay, Soma, Ashis Mukhopadhyay, Pinaki Ranjan Gupta, Manoj Kar, and Arpita Ghosh. "The Role of Iron Chelation Activity of Wheat Grass Juice in Blood Transfusion Requirement of Intermediate Thalassaemia." Blood 110, no. 11 (November 16, 2007): 3829. http://dx.doi.org/10.1182/blood.v110.11.3829.3829.
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Abstract Background: Previously it was thought that the chlorophyll of wheat grass (Triticum astevum) may be the substitute of haemoglobin of RBC having resemblance of similar structure. A group of Austrelian scientists tried to prove that wheat grass juice increases the foetal haemoglobin level 3–5 folds in intermediate thalassaemia patients. A pilot study with wheat grass juice in major thalassaemia patients were done by Dr. Marwa et al in IPGMR, Chandigarh, India. But there is no satisfactory explanation behind the reduced blood transfusion requirements after consumption of wheat grass juice for a long period. The aim of our study was to see the effect of wheat grass juice in blood transfusion requirement in intermediate thalassaemia patients and also do the biochemical analysis of the wheat grass juice. Material & Methods: During period from January 2003 to December 2006 we selected 200 intermediate thalassaemia patients (E-thalassaemia, E-Beta & Sickle thal) in the paediatric oncology department of Netaji Subhash Chandra Bose Cancer Research Institute. The age range of the patients was 1 year to 35 years (median age 18 years). The different types of thalasssaemia were E-Beta Thalassaemia 80% (160 patients), E-Thalassaemia 15% (30 patients) and Sickle Thalassaemia 5% (10 patients). When the wheat grasses were 5–7 days old, the fresh leaves including steams were made fresh juice and had given 30ml of juice daily to all our 200 patients for continuous 6 months. Wheat grass juice was analysed by column chromatography and found to be rich in oxalic acid and malic acid which might have some role in dietary absorption of iron from intestine. Beside that the wheat grass juice was found to contain a unique iron chelating property which was performed by deoxyribose degradation assay. We compared aqueous soluble extract of 5–7th day plant and our dose dependant study showed a significant iron chelating activity of crude extract in comparison to known standard iron chelator desferroxamine (DFO). The active compounds of crude extract of wheat grass may chelate catalytic iron in iron overload disorders when taking systematic dose. Result: The mean levels of haemoglobin before starting wheat grass juice were 6.2gm%. After 6months of wheat grass therapy the mean value for haemoglobin was 7.8gm% (pvalue <. 005). Twenty four patients (12%) require blood transfusion (haemoglobin < 6gm%). The performance status was improved from 60% to 80% (Karnofsky) after wheat grass treatment. The ferritin level of all patients before the study was found to be decreased significantly after wheat grass juice consumption. The mean interval between transfusion were found increased. Being a natural potent iron chelator and H2O2 quencher, it prevents the hydroxyl radical production by Fenton reaction in the RBC. Thus it may prevent the breakdown of plasma membrane of RBC and haemoglobin level becomes stable for a prolonged period. Conclusion: We may conclude that wheat grass juice is an effective alternative of blood transfusion. It’s use in intermediate thalassaemia patients should be encouraged.
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Bancone, Germana, Mary Ellen Gilder, Nongnud Chowwiwat, Gornpan Gornsawun, Elsi Win, Win Win Cho, Eh Moo, et al. "Prevalences of inherited red blood cell disorders in pregnant women of different ethnicities living along the Thailand-Myanmar border." Wellcome Open Research 2 (November 2, 2017): 72. http://dx.doi.org/10.12688/wellcomeopenres.12338.2.
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Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies among the pregnant population living along the Thailand-Myanmar border. Pregnant women attending antenatal clinics in this area belong to several distinct ethnic groups. Methods: Data were available for 13,520 women attending antenatal care between July 2012 and September 2016. Screening for G6PD deficiency was done by fluorescent spot test routinely. G6PD genotyping and quantitative phenotyping by spectrophotometry were analysed in a subsample of women. Haemoglobin variants were diagnosed by HPLC or capillary electrophoresis and molecular methods. The prevalence and distribution of inherited red blood cell disorders was analysed with respect to ethnicity. Results: G6PD deficiency was common, especially in the Sgaw Karen ethnic group, in whom the G6PD Mahidol variant allele frequency was 20.7%. Quantitative G6PD phenotyping showed that 60.5% of heterozygous women had an intermediate enzymatic activity between 30% and 70% of the population median. HbE, beta-thalassaemia trait and Hb Constant Spring were found overall in 15.6% of women. Only 45.2% of women with low percentage of HbA2 were carriers of mutations on the alpha globin genes. Conclusions: Distribution of G6PD and haemoglobin variants varied among the different ethnic groups, but the prevalence was generally high throughout the cohort. These findings encourage the implementation of an extended program of information and genetic counselling to women of reproductive age and will help inform future studies and current clinical management of anaemia in the pregnant population in this region.
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Mat Ghani, Siti Nor Assyuhada, Rozieyati Mohamed Saleh, Wan Suriana Wan Ab Rahman, Mohd Nazri Hassan, Wan Zaidah Abdullah, Maryam Azlan, and Zefarina Zulkafli. "β-globin gene cluster mutations and large deletions among anaemic patients with elevated HbF level in a tertiary teaching hospital in Kelantan, Malaysia." Asia Pacific Journal of Molecular Biology and Biotechnology, February 4, 2021, 10–18. http://dx.doi.org/10.35118/apjmbb.2021.029.1.02.
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Mutations in the β-globin gene cluster can lead to β-thalassaemia, δβ-thalassaemia, hereditary persistence of foetal haemoglobin (HPFH) and some of the haemoglobin variants. The clinical and haematological spectrum of thalassaemia range from benign to pathogenic conditions including severe transfusion dependent thalassaemia. Therefore, it is important to accurately diagnose β-globin gene cluster mutations to prevent thalassaemia major or intermedia offspring. The objective of this study is to detect β-globin gene cluster mutations and large deletions among anaemic patients with elevated HbF level in a tertiary teaching hospital in Kelantan, Malaysia. This study involved 144 anaemic patients with HbF level >1.0%. High-Performance Liquid Chromatography (HPLC) was used to determine the HbF and HbA2 levels. Multiplex-ARMS (ARMS)-PCR and gap-PCR were performed for those patients with high HbA2 level (>3.2%) and normal HbA2 level (≤3.2%) to detect β-globin gene cluster mutations and large deletions respectively. The majority of patients were Malays (99.3%) with mean age of 19.99 ± 1.64 years and female 61.1% predominance. Out of 87 samples tested using multiplex ARMS-PCR against eight targeted single mutation; Cd 41/42, IVS 1–5, Cd 26, Cd 17, Cd 71/72, IVS 1–1, Cd 8/9 and -28 mutations, 65 (74.7%) patients were detected which comprises of Cd 26 (56.3%), Cd 41/42 (11.5%), compound Cd 26 and Cd 41/42 (3.4%) and IVS 1–1 (3.4%). Meanwhile, for multiplex gap-PCR which detect four types of large deletions; Thai (δβ)o-thalassaemia, HPFH-6, Siriraj J and Hb Lepore, one out of 57 patients (1.8%) was found positive with Thai (δβ)o-thalassaemia. There was a significant difference between the mean of HbF level, MCV level as well as MCH level of patients with and without β-globin gene mutations and large deletions (P<0.05). This study highlighted the presence of various types of β-globin gene cluster mutations detection in establishing a definitive diagnosis among this selected group of patients for the large-scale screening of the thalassaemia gene.