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Journal articles on the topic 'Thalassaemia intermedia'

Author: Grafiati

Published: 4 June 2021

Last updated: 14 February 2022

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1

Sheikha, Anwar, Mohan Kameswaran, B. C. Okafor, and Abdul-Aziz Al-Saigh. "Otological manifestations of thalassaemia intermedia: evidence of temporal bone involvement and report of a unique cholesteatoma-like lesion." Journal of Laryngology & Otology 106, no. 4 (April 1992): 316–21. http://dx.doi.org/10.1017/s0022215100119383.

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AbstractThalassaemia intermedia should be considered in any chronically anaemic patient presenting fromthe Middle East with hearing impairment. We report here three Saudi siblings with thalassaemia intermedia and features of severe bone marrow expansion, particularly invading the temporal bone. They were seen first for their otological problems before they had access to proper haematological evaluation. One member was admitted for surgical exploration of a cholesteatoma, which was then found to be marrow expansion of the temporal bone. Screening of the family revealed twomore anaemic siblings with thalassaemia intermedia. Audiological examination of all the family members showed that only the two affected members had a high frequency sen-sori-neural hearing loss.Bone marrow expansion into the temporal bone is a rare feature of thalassaemia intermedia. Cholesteatoma-like lesion has not been previously described. It has to be considered in all cases of symptomatic thalassaemia intermedia manifesting with cavitation and lytic lesions in the mastoid system. The likelihood that sensorineu-ral hearing loss may complicate the thalassaemias israised and the possible mechanism for such involvement discussed. The proper management for different otological manifestations of the thalassaemias is suggested. These cases would suggest amore extensive involvement of the temporal bone in the thalassaemias than has been previously recognized. Further large scale studies are required to illuminate the subject.

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2

Saadoon, Mohammed Q., and Bushra H. Ali. "Evaluation and Correlation of Hepcidin-25 Hormone, Hemoglobin and Packed Cell Volume of Patients With β-Thalassaemia Intermedia Before and After Blood Transfusion for Iraqi Children Patients." Ibn AL- Haitham Journal For Pure and Applied Science 31, no. 3 (November 19, 2018): 70. http://dx.doi.org/10.30526/31.3.2013.

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β-thalassaemia consists of 3 chief forms: thalassaemia primary (other called "cooley's Anaemia" or "Mediterranean durability Anaemia"), thalassaemia intermedia or thalassaemia minor also frequent termed "β-thalassaemia carrier", "β-thalassaemia trait" however, "heterozygous β-thalassaemia". separately from the rare magisterial forms, problem along β-thalassaemia essential are homozygotes or made heterozygotes because B0 and B+ genes, problem including thalassaemia intermedia are typically homozygotes and compound heterozygotes then subjected with thalassaemia minor are broadly heterozygotes. In this study, we take eighty humans the age about them had been mean±SD (9.68±2.08), 40 patients along β-thalassaemia intermedia, then 40 healthy people as much control. extraction gore 5ml from thalassaemia's patients before gore transfusion then afterwards take the blood by way of three days. The samples we instituted are 120, forty samples before blood transfusion, 40 samples after gore transfusion then 40 control samples. Then we separated every pattern of twin's tubes. Amplify blood attention about β-thalassaemia intermedia patient since blood advancement due according to minimize degree regarding hepcidin-25 further than its instruction was once shown up iron focus meanly affect through hepcidin-25 level, therefore so hepcidin-25 used to be surprisingly significant exchange in β-thalassaemia intermedia affected person afterwards blood advancement yet so much conduct to iron overload. So we conclude low level of Hemoglobin before and after blood transfusion due to decrease or absent formation of β-globin that because gene disorder, and conclude correlation between hepcidin hormone with Hb and PCV. The aim of this study is to evaluate hepcidin-25 levels, hemoglobin [Hb] and packed cell volume [PCV] before and after blood transfusion, then correlation of hepcidin-25 hormone with [Hb] and [PCV] of children patients with β-thalassaemia intermedia.

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3

Wainscoat, J. S., S. L. Thein, and D. J. Weatherall. "Thalassaemia intermedia." Blood Reviews 1, no. 4 (December 1987): 273–79. http://dx.doi.org/10.1016/0268-960x(87)90029-4.

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4

Singh, A., and S. Varma. "-Thalassaemia intermedia masquerading as -thalassaemia major." Case Reports 2014, no. 28 1 (November 28, 2014): bcr2014207637. http://dx.doi.org/10.1136/bcr-2014-207637.

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5

Tanin, Md Jamal Uddin, Fatiha Tasmin Jeenia, Fahmida Ahamed, and Mushfiqul Abrar. "Demographic and Treatment Status of Thalassaemia Patients in a Tertiary Hospital in Bangladesh." Haematology Journal of Bangladesh 4, no. 02 (December 31, 2020): 44–48. http://dx.doi.org/10.37545/haematoljbd20201.

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Introduction: Thalassaemia is now effectively treated with adequate blood transfusion and iron chelation. The disease process itself and iron overload from blood transfusions together produce multiple complications. Objective: Due to increased life expectancy of thalassaemia patients it is important to point out demographic profiles and clinical history related factors that may vary due to numerous causes. Therefore, objective of this study may lead to know the obstacles to access treatment and to find solutions to prevent complications in our socioeconomic background. Methodology: Three clinical types of thalassaemia were assessed in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. Total 109 subjects with thalassaemia were included in the study according to the inclusion criteria. They were distributed as thalassaemia major (33 subjects), thalassaemia intermedia (34 subjects) and thalassaemia minor (42 subjects). The patients were asked questions regarding demographic status and some clinical histories through a questionnaire. After compilation of the data statistical analysis was done accordingly. Results: The mean age of the subjects in years were 22.7 in thalassaemia major, 22.09 in thalassaemia intermedia and 22.5 in thalassaemia minor with nearly equal gender distributions. Students constituted 27.27% among thalassaemia major, 32.35% among thalassaemia intermedia and 30.95% among thalassaemia minor. The participants were educated up to primary level by 51.52% in thalassaemia major, 47.06 % in thalassaemia intermedia and 57.14 % in thalassaemia minor. Most of the subjects were Muslims and over 75% of the subjects came from outside the Dhaka the city. The mean number of life time transfusions were 105.33 in the patients of thalassaemia major, 33.85 in the intermedia and 0.76 in the minor. Iron chelation were done in 48.48% of thalassaemia major and 17.64% of thalassaemia intermedia at some point of their treatment. Splenectomy was done in 5 (15.15%) of thalassaemia major and 2 (5.8%) in thalassaemia intermedia patients. Before enrolment in the study 9.09% thalassaemia major, 50% intermedia and 83% minor subjects never visited haematologists or haematology OPD. Conclusion: Most of the subjects were at their working age and students and had to take treatment from inter-district facilities. Majority of the patients with thalassaemia intermedia and minor never consulted haematologists. Transfusion frequency was high with inadequate iron chelation.

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6

Rao, K. R. P., and A. R. Patel. "Priapism and thalassaemia intermedia." British Journal of Surgery 73, no. 12 (December 1986): 1048. http://dx.doi.org/10.1002/bjs.1800731236.

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7

Borgna-Pignatti, Caterina. "Modern treatment of thalassaemia intermedia." British Journal of Haematology 138, no. 3 (August 2007): 291–304. http://dx.doi.org/10.1111/j.1365-2141.2007.06654.x.

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8

Qatanani, M., A. Taher, S. Koussa, R. Naaman, C. Fisher, M. Rugless, J. Old, and L. Zahed. "β-Thalassaemia intermedia in Lebanon." European Journal of Haematology 64, no. 4 (April 2000): 237–44. http://dx.doi.org/10.1034/j.1600-0609.2000.90087.x.

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9

Cappellini, Maria D. "Thalassaemia as a Hypercoagulable State." European Oncology & Haematology 07, no. 03 (2011): 214. http://dx.doi.org/10.17925/eoh.2011.07.03.214.

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Although the life expectancy of thalassaemia patients has markedly improved over the last few decades, patients still suffer from many complications of this congenital disease. The presence of a high incidence of thromboembolic events, mainly in thalassaemia intermedia, has led to the identification of a hypercoagulable state in these patients. In this article, the molecular and cellular mechanisms leading to hypercoagulability in thalassaemia are highlighted, with a special focus on thalassaemia intermedia, being the type with the highest incidence of thrombotic events as compared with other types of thalassaemia. Clinical experience and available clues regarding optimal management are also discussed.

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10

Badens, C., MG Mattei, AM Imbert, C. Lapouméroulie, N. Martini, G. Michel, and D. Lena-Russo. "A novel mechanism for thalassaemia intermedia." Lancet 359, no. 9301 (January 2002): 132–33. http://dx.doi.org/10.1016/s0140-6736(02)07338-5.

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11

Buonanno, G., A. Valente, F. Gonnella, N. Cantore, and G. Bellis. "Serum Ferritin in β-Thalassaemia Intermedia." Scandinavian Journal of Haematology 32, no. 1 (April 24, 2009): 83–87. http://dx.doi.org/10.1111/j.1600-0609.1984.tb00681.x.

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12

Taher, Ali T., Khaled M. Musallam, Maria Domenica Cappellini, and David J. Weatherall. "Optimal management of β thalassaemia intermedia." British Journal of Haematology 152, no. 5 (January 20, 2011): 512–23. http://dx.doi.org/10.1111/j.1365-2141.2010.08486.x.

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13

Pippard, Martin J. "RED CELL KINETICS IN THALASSAEMIA INTERMEDIA." British Journal of Haematology 60, no. 4 (August 1985): 765–66. http://dx.doi.org/10.1111/j.1365-2141.1985.tb07481.x.

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14

Wainscoat, J. S., E. Kanavakis, W. G. Wood, E. A. Letsky, E. R. Huehns, G. W. Marsh, D. R. Higgs, J. B. Clegg, and D. J. Weatherall. "Thalassaemia intermedia in Cyprus: the interaction of α and β thalassaemia." British Journal of Haematology 53, no. 3 (July 7, 2008): 411–16. http://dx.doi.org/10.1111/j.1365-2141.1983.00353.x-i1.

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15

Ricchi, Paolo, Massimiliano Ammirabile, and Aurelio Maggio. "Hypocholesterolaemia in Thalassaemia – Pathogenesis, Implications and Clinical Effects." European Oncology & Haematology 00, no. 04 (2010): 20. http://dx.doi.org/10.17925/eoh.2010.04.0.20.

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In this review, the role of hypocholesterolaemia as a potential source of several clinical features of patients affected by thalassaemia is assessed. The primary focus is on the extent of the phenomenon among different forms of thalassaemia in order to highlight the particularly reduced level in patients with thalassaemia intermedia. In addition, we explore how the reduced levels of cholesterol could influence the atherogenic process and many typical clinical features of patients affected by thalassaemia.

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16

Wong, K. H., A. Li, T. H. Lui, and Y. K. Sit. "Spinal epidural extramedullary haematopoiesis in -thalassaemia intermedia." Case Reports 2014, jan03 1 (January 3, 2014): bcr2013201534. http://dx.doi.org/10.1136/bcr-2013-201534.

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17

Jackson, N., I. M. Franklin, and M. A. Hughes. "Recurrent priapism following splenectomy for thalassaemia intermedia." British Journal of Surgery 73, no. 8 (August 1986): 678. http://dx.doi.org/10.1002/bjs.1800730832.

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18

Tsomi, K., M. Karagiorga-Lagana, F. Karabatsos, C. Fragodimitri, C. Van Vliet-Konstantinidou, E. Premetis, and A. Stamoulakatou. "Arterial elastorrhexis in β-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis." European Journal of Haematology 67, no. 3 (September 2001): 135–41. http://dx.doi.org/10.1034/j.1600-0609.2001.5790349.x.

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19

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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20

Glanville, Julie, Perla Eleftheriou, and John Porter. "MRI Evidence of Cardiac Iron Accumulation in Myelodysplasia and Unusual Anaemias." Blood 108, no. 11 (November 16, 2006): 1553. http://dx.doi.org/10.1182/blood.v108.11.1553.1553.

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Abstract Iron overload is a well described complication of multiple transfusions. Cardiac failure secondary to myocardial iron accumulation is the leading cause of death in thalassaemia major patients, and survival is improved with iron chelation. Identifying patients at risk of complications from iron overload is now more widely available with the MRI T2* technique. Iron chelation improves survival in thalassaemia major patients, but the significant practical difficulties limit its use in acquired anaemias. It has recently been suggested that abnormal cardiac T2* values do not occur in multitransfused elderly patients with aquired sideroblastic anaemia (RARS) (Winder et al Blood 2005 106: Abstract 2536). Here we examine the frequency of cardiac iron accumulation as evidenced by a shortening of the myocardial T2* value in multi transfused patients with myelodysplasia (MDS), sickle cell anaemia, and other transfusion dependent anaemias, including diamond blackfan anaemia (DBA) and pyruvate kinase deficiency (PKD). Method: Database records of cardiac magnetic resonance T2* values were assessed on 41 non sickle, non thalassaemia patients, 131 thalassaemia major and intermedia and 37 sickle cell patients, where a shortening of the cardiac T2* value below 20ms is associated with iron overload. 7 patients with MDS were assesed for transfusion duration and intensity, iron chelation and hepatic T2* values. Results: 14 out of 41 (34%) patients with non-sickle, non-thalassaemia transfusion dependent anaemia had abnormal cardiac T2* values, compared with 48% of thalassaemia major patients,13% thalassaemia intermedia and 2.7% sickle cell anaemia Table1. Table 1: Percentage of patients with Cardiac iron overload as evidenced by MRI T2* <20ms in unusual anaemias, thalassaemias and sickle cell anaemia DIAGNOSIS NO. PATIENTS AVERAGE AGE (Yrs) NO. PATIENTS WITH T2*<20 ms Hb H 2 40.5 (35–46) O Haemolytic Anaemia Unknown Cause 1 11 0 Osteopetrosis 1 49 0 AML/BMT/MF 5 26.4 (6–49) 1 (20%) Myelodysplasia 1 41 0 CDA 1 41 0 Erythropoietic Porphyria 1 40 0 Red Cell Aplasia 2 36 (35–37) 0 DBA 7 25 (9–36) 5 (71%) PKD 9 26.2 (14–47) 2 (22%) Congenital Sideroblastic Anaemia 4 35.3 (22–64) 3 (75%) Thalassaemia major 108 26 (1– 51) 52 (48%) Thalassaemia intermedia 23 34.6 (14–60) 3 (13%) Sickle Cell Anaemia 37 37.5 (21–58) 1 (2.7%) In patients with MDS, cardiac iron overload occurs between 2 and 4 years of consistent transfusion, but may not occur even after 12 years. Transfusion intensity but not total blood volume is higher in those with cardiac iron load. Hepatic iron overload is more severe in those with cardiac iron overload, and ferritin values are higher (Average 5865 ug/l v 2832 ug/l) but neither predicts cardiac iron load One out of three patients with T2* under 20ms was heterozygous for C282Y and one heterozygous for H63D.Table2. Table 2: A comparison of transfusion intensity, duration, iron chelation and hepatic T2* values in patients with and without cardiac iron overload in myelodysplasia MYELODYSPLASIA T2* < 20 T2* > 20 Number of Patients 3 4 Average Years of Transfusion (yrs) 208 204 Average No of Red Cell Units Transfused 3.3 (2–4) 6.1 (2–12) Average Hepatic T2*(ms) 1.4 (1.2–1.6) 4.7 (1.2–14.7) Proportion on iron chelation 1/3 2/4 Average Units/Year 51.3 40.1 Conclusion: Iron accumulation can occur in elderly patients with myelodysplasia after only two years of transfusion. Early consideration of iron chelation is appropriate and additional risk factors, eg inheritance of HFE gene mutations should be determined.

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21

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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22

Gupta, Vipin, Chalapathi Rao, Surinder S. Rana, and Deepak K. Bhasin. "Porcelain gallbladder and thalassaemia intermedia: Association or coincidence?" Digestive and Liver Disease 44, no. 10 (October 2012): e22. http://dx.doi.org/10.1016/j.dld.2012.04.006.

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23

Parano, E., V. Pavone, F. Di Gregorio, P. Pavone, and RR Trifiletti. "Extraordinary intrathecal bone reaction in β-thalassaemia intermedia." Lancet 354, no. 9182 (September 1999): 922. http://dx.doi.org/10.1016/s0140-6736(99)03587-4.

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24

Brianda, S., M. Maioli, T. Frulio, F. Dore, M. Longinotti, D. Fracasso, and S. Campus. "The Euglycemic Clamp in Patients with Thalassaemia Intermedia." Hormone and Metabolic Research 19, no. 07 (July 1987): 319–22. http://dx.doi.org/10.1055/s-2007-1011810.

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25

Agostoni, Piergiuseppe, Mario Cerino, Pietro Palermo, Alessandra Magini, Michele Bianchi, Maurizio Bussotti, Gemino Fiorelli, and Maria D. Cappellini. "Exercise capacity in patients with beta-thalassaemia intermedia." British Journal of Haematology 131, no. 2 (October 2005): 278–81. http://dx.doi.org/10.1111/j.1365-2141.2005.05765.x.

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26

Petrova, Kristina, Valeriya Kaleva, and Elina Peteva. "Thalassaemia intermedia - the most common complications and treatment." Varna Medical Forum 8, no. 1 (January 29, 2019): 23. http://dx.doi.org/10.14748/vmf.v8i1.5794.

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27

Kulozik, A. E., S. L. Thein, J. S. Wainscoat, R. Gale, L. A. Kay, J. K. Wood, D. J. Weatherali, and E. R. Huehns. "Thalassaemia intermedia: interaction of the triple α-globin gene arrangement and heterozygous β-thalassaemia." British Journal of Haematology 66, no. 1 (May 1987): 109–12. http://dx.doi.org/10.1111/j.1365-2141.1987.tb06898.x.

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28

Altay, C., and A. Gurgey. "Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I." Journal of Medical Genetics 22, no. 3 (June 1, 1985): 205–12. http://dx.doi.org/10.1136/jmg.22.3.205.

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29

Sahin, C., O. Basaran, Y. Topal, and F. Akin. "A thalassaemia intermedia case with concomitant left atrial thrombus." Case Reports 2014, jun20 2 (June 20, 2014): bcr2013203106. http://dx.doi.org/10.1136/bcr-2013-203106.

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30

Saad, G. S. Abi, K. M. Musallam, and A. T. Taher. "The surgeon and the patient with β-thalassaemia intermedia." British Journal of Surgery 98, no. 6 (April 8, 2011): 751–60. http://dx.doi.org/10.1002/bjs.7533.

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31

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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32

Ghosh, K., D. K. Shome, N. Marwaha, V. K. Khosla, G. Garewal, and D. Mohanty. "COMPRESSIVE MYELOPATHY. AN UNUSUAL PRESENTATION OF B-THALASSAEMIA INTERMEDIA." Scandinavian Journal of Haematology 35, no. 3 (April 24, 2009): 376. http://dx.doi.org/10.1111/j.1600-0609.1985.tb01724.x.

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Gurgey, A., S. Kayin, E. Kansu, and C. Altay. "Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II." Journal of Medical Genetics 22, no. 3 (June 1, 1985): 213–21. http://dx.doi.org/10.1136/jmg.22.3.213.

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34

Thein, S. L., C. Hesketh, R. B. Wallace, and D. J. Weatherall. "The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis." British Journal of Haematology 70, no. 2 (October 1988): 225–31. http://dx.doi.org/10.1111/j.1365-2141.1988.tb02468.x.

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35

Cappellini, M. Domenica, Chiara Refaldi, Daniela Bignamini, Laura Zanaboni, and Gemino Fiorelli. "Molecular Analysis of Alpha Hemoglobin Stabilizing Protein (AHSP) in Caucasian Patients with different Beta-Thalassemia Phenotypes." Blood 104, no. 11 (November 16, 2004): 3770. http://dx.doi.org/10.1182/blood.v104.11.3770.3770.

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Abstract Beta-thalassemia is a inherited hemoglobin disorder characterized by absent or reduced synthesis of the b globin chains. The pathophysiology and the severity of b-thalassemias reflect the degree of globin chain imbalance and the excess of free a globin chains that precipitate and cause oxidative damage in red cell precursors inducing their premature destruction in the bone marrow (ineffective erythropoiesis). Although the phenotype of b thalassemias can be modified by inherited factors such as different number of a globin genes or increased fetal hemoglobin production, other mechanisms appear to be involved. Recently, a protein, named alpha hemoglobin stabilizing protein (AHSP), that acts as a molecular chaperone specifically for free a globin chains, preventing their precipitation in red cell precursors, has been identified. To establish whether AHSP might have a role in modifying the clinical outcome of b thalassemias, we have analyzed the AHSP gene in 70 Caucasian b thalassaemic subjects: 26 patients with b°/b° genotype (Thalassaemia Major),24 patients with Thalassemia Intermedia (b°/b+ or b+/b+) and 20 patients with a Thalassaemia Intermedia phenotype but with only one mutation in the b globin gene, a normal a globin genotype and no other causes of anemia. In all the subjects, we have performed Denaturing High-Performance Liquid Chromatography (DHPLC) of the three exons and the direct genomic sequencing of coding and noncoding regions (~ 1.5 kb) of AHSP gene. No mutations able to modify the structure or function of AHSP have been found, however we identified eight single nucleotide polymorphisms (SNPs) spanned along the whole gene that segregate in four different aplotypes. To evaluate a possible relationship between a particular aplotype and b thalassemia severity, the allele frequency of each single aplotype in the tree groups has been established and compared to that of 33 Caucasian normal controls: no statistically significant association has been proved. Even though the loss of AHSP aggravates the b thalassaemia phenotype in mice, in Thalassemic Caucasian population the AHSP apparently doesn’t make changes in the clinical severity of b thalassemia confirming the results recently found in Thai population.

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36

Mohamed, N., and N. Jackson. "Severe thalassaemia intermedia: clinical problems in the absence of hypertransfusion." Blood Reviews 12, no. 3 (September 1998): 163–70. http://dx.doi.org/10.1016/s0268-960x(98)90014-5.

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37

Cappellini, M. D., L. Robbiolo, B. M. Bottasso, R. Coppola, G. Fiorelli, and and P. M. Mannucci. "Venous thromboembolism and hypercoagulability in splenectomized patients with thalassaemia intermedia." British Journal of Haematology 111, no. 2 (November 2000): 467–73. http://dx.doi.org/10.1046/j.1365-2141.2000.02376.x.

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38

Sbyrakis, S., M. Karagiorga-Lagana, I. Voskaki, H. Efthimiou, and A. Karaklis. "A simple index for initiating transfusion treatment in thalassaemia intermedia." British Journal of Haematology 67, no. 4 (December 1987): 479–84. http://dx.doi.org/10.1111/j.1365-2141.1987.tb06172.x.

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39

Thein, S. L., J. S. Wainscoat, M. Sampietro, J. M. Old, D. Cappellini, G. Fiorelli, B. Modell, and D. J. Weatherall. "Association of thalassaemia intermedia with a beta-globin gene haplotype." British Journal of Haematology 65, no. 3 (March 1987): 367–73. http://dx.doi.org/10.1111/j.1365-2141.1987.tb06870.x.

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40

Celada, Antonio. "Iron Overload in a Non-Transfused Patient with Thalassaemia Intermedia." Scandinavian Journal of Haematology 28, no. 2 (April 24, 2009): 169–74. http://dx.doi.org/10.1111/j.1600-0609.1982.tb00510.x.

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41

Taher, Ali, Chaim Hershko, and Maria Domenica Cappellini. "Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies." British Journal of Haematology 147, no. 5 (December 2009): 634–40. http://dx.doi.org/10.1111/j.1365-2141.2009.07848.x.

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42

Leblebisatan, Göksel, Ali Bay, Akif Sirikci, Huseyin Kilincaslan, Serdar Sonmezisik, Serife Leblebisatan, Osman Baspinar, Mustafa Dogan, and Uluc Yis. "Silent cerebral infarct in child patients with beta thalassaemia intermedia." Blood Coagulation & Fibrinolysis 23, no. 7 (October 2012): 608–13. http://dx.doi.org/10.1097/mbc.0b013e3283566b0f.

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43

Pfeifer, W. P., G. R. Degasperi, M. T. Almeida, A. E. Vercesi, F. F. Costa, and S. T. O. Saad. "Vitamin E Supplementation Reduces Oxidative Stress in Beta Thalassaemia Intermedia." Acta Haematologica 120, no. 4 (2008): 225–31. http://dx.doi.org/10.1159/000201988.

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44

Cappellini, M. D., L. Robbiolo, B. M. Bottasso, R. Coppola, G. Fiorelli, and And P. M. Mannucci. "Venous thromboembolism and hypercoagulability in splenectomized patients with thalassaemia intermedia." British Journal of Haematology 111, no. 2 (November 2000): 467–73. http://dx.doi.org/10.1111/j.1365-2141.2000.02376.x.

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45

Maakaron, Joseph E., Khaled M. Musallam, Jad Bou Ayache, Mark Jabbour, Ayman N. Tawil, and Ali T. Taher. "A liver mass in an iron-overloaded thalassaemia intermedia patient." British Journal of Haematology 161, no. 1 (January 7, 2013): 1. http://dx.doi.org/10.1111/bjh.12195.

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46

Weizer-Stern, Orly, Konstantin Adamsky, Ninette Amariglio, Carina Levin, Ariel Koren, William Breuer, Eliezer Rachmilewitz, et al. "Down Regulation of Hepcidin and Haemojuvelin Expression in the Hepatocyte Cell-Line HepG2 Induced by Thalassaemic Sera." Blood 108, no. 11 (November 16, 2006): 1556. http://dx.doi.org/10.1182/blood.v108.11.1556.1556.

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Abstract β-thalassaemia represents a group of diseases, in which ineffective erythropoiesis is accompanied by iron overload. In a mouse model of β-thalassaemia we observed that the liver expresses relatively low levels of hepcidin, which is a key factor in the regulation of iron absorption by the gut and of iron recycling by the reticuloendothelial system. We hypothesized that despite the overt iron overload, a putative plasma factor found in β-thalassaemia might suppress liver hepcidin expression. We therefore compared sera from β-thalassaemia and haemochromatosis (C282Y mutation) patients with those of healthy individuals in terms of their capacity to evoke changes in expression of key genes of iron metabolism in human HepG2 hepatoma cells. Sera from β-thalassaemia major patients evoked a major decrease in hepcidin (HAMP) and lipocalin2 (oncogene 24p3) (LCN2) expression, as well as a moderate decrease in haemojuvelin (HFE2) expression, compared to sera from healthy individuals. Significant correlation was found between the degree of downregulation of HAMP and HFE2 evoked by b-thalassaemia major sera (r=0.852, p<0.0009). Decreased HAMP expression was also found in HepG2 cells treated with sera collected from β-thalassaemia intermedia patients. In contrast, the majority of sera from hereditary haemochromatosis patients evoked an increase in HAMP expression, which correlated with their transferrin saturation (r=0.765, p<0.0099). Our results suggest that in β-thalassaemia, serum factors might override the potential effect of iron overload on HAMP expression, thereby providing an explanation for the failure to arrest excessive intestinal iron absorption.

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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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Galanello, Renzo, Lucia Perseu, Chiara Perra, Liliana Maccioni, Susanna Barella, Maurizio Longinotti, Antonio Cao, and Mario Cazzola. "Somatic deletion of the normal β-globin gene leading to thalassaemia intermedia in heterozygous β-thalassaemic patients." British Journal of Haematology 127, no. 5 (November 19, 2004): 604–6. http://dx.doi.org/10.1111/j.1365-2141.2004.05237.x.

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Pollak, Rivka Dresner, Eliezer Rachmilewitz, Anat Blumenfeld, Maria Idelson, and Ada W. Goldfarb. "Bone mineral metabolism in adults with beta-thalassaemia major and intermedia." British Journal of Haematology 111, no. 3 (December 2000): 902–7. http://dx.doi.org/10.1046/j.1365-2141.2000.02392.x.

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Brownell, A. I., D. A. McSwiggan, W. D. Cubitt, and M. J. Anderson. "Aplastic and hypoplastic episodes in sickle cell disease and thalassaemia intermedia." Journal of Clinical Pathology 39, no. 2 (February 1, 1986): 121–24. http://dx.doi.org/10.1136/jcp.39.2.121.

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