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Sein Win 1 , Rai Mra 1 , Ne Win 2 , Htun Lwin Nyein 1 , Aye Aye Gyi 1 and Moe Hein 1

"CLINICAL AND MOLECULAR STUDY OF BETA-THALASSAEMIA INTERMEDIA IN MYANMAR PATIENTS AT YANGON GENERAL HOSPITAL". Sein Win 1 , Rai Mra 1 , Ne Win 2 , Htun Lwin Nyein 1 , Aye Aye Gyi 1 and Moe Hein 1. 1. Department of Clinical Haematology, Yangon General

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Sein Win 1 , Rai Mra 1 , Ne Win 2 , Htun Lwin Nyein 1 , Aye Aye Gyi 1 and Moe Hein 1

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  1. "CLINICAL AND MOLECULAR STUDY OF BETA-THALASSAEMIA INTERMEDIA IN MYANMAR PATIENTS AT YANGON GENERAL HOSPITAL" Sein Win1, Rai Mra1, Ne Win2, HtunLwin Nyein1, Aye Aye Gyi1 and Moe Hein1 • 1. Department of Clinical Haematology, Yangon General • Hospital, University of Medicine 1, Yangon • 2. National Health Laboratory, Yangon

  2. BACKGROUND • β-thalassaemia is common and molecular defects vary among Asian countries. • The clinical features and the nature of molecular defects of Myanmar patients with β-thalassaemia intermedia (TI) are also widely variable.

  3. AIM • To study the clinical features, complications and the nature of molecular defects of Myanmar patients with β-TI

  4. METHODS • Hospital-based cross sectional study • The clinical features and complications of 103 patients with β-TI attending to the Department of Clinical Haematology, YGH during two-year period from August, 2008 to July, 2010 were studied. • The β-thalassaemia mutation analysis was done by ARMS-PCR technique using six sets of primers known to be common in Asian countries

  5. RESULTS

  6. Types of β-thalassaemia by Hb Electrophoresis (n=103)

  7. Mean 26.81 + 11.41 years (range 12-66) Age Distribution of Beta-Thalassaemia Intermedia Patients (n=103) 36.90% 32.00%

  8. Sex Distribution of Beta-Thalassaemia Intermedia Patients (n=103)

  9. Facial Deformity in Beta-ThalassaemiaIntermedia Patients (n=103)

  10. Skin Pigmentation in Beta-ThalassaemiaIntermedia Patients (n=103)

  11. Age of Onset of Beta-ThalassaemiaIntermedia Patients (n=103)

  12. Transfusion Requirement In β-thalassaemiaIntermedia Patients (n=103)

  13. Age at First Transfusion in β-Thalassaemia Intermedia Patients (n=103) 28.16% Mean 13.47 + 9.67yr (range 2.44)

  14. Red Cell Alloimmunisation in • β-Thalassaemia Intermedia Patients (n=103)

  15. Alloantibody Distribution Among • β-Thalassaemia Intermedia Patients (n=21) Anti- E Rhesus Ab Anti- c Rhesus Ab Anti- Jk-a Kidd Ab Anti- Jk-b Kidd Ab Anti- Le-a Lewis Ab

  16. Splenectomyin Beta-Thalassaemia • Intermedia Patients (n=103) Mean age of splenectomy 22.11 + 13.67 yr (range 4.5 - 62)

  17. Bone Fracture in Beta-Thalassaemia • Intermedia Patients (n=103)

  18. Site of Fractures In Beta-Thalassaemia • Intermedia Patients (n=42)

  19. Billiary Complications In β-Thalassaemia • Intermedia Patients (n=103)

  20. Cardiac Examination in β-Thalassaemia • Intermedia Patients (n=103)

  21. Chest X-rays Findings in β -Thalassaemia • Intermedia Patients (n=103)

  22. ECG Changes in β -Thalassaemia • Intermedia Patients (n=103)

  23. Echocardiogrphic Changes in • β -Thalassaemia Intermedia Patients (n=84)

  24. Education Status of Beta-Thalassaemia • Intermedia Patients (n=103)

  25. Outcome Of Pregnancy In Beta-Thalassaemia Intermedia Patients (n=35) Premature baby 1, 2.86% Neonatal Death 1, 2.86%

  26. Serum Ferritin of Beta-Thalassaemia Intermedia Patients (n=103) 53 27 23

  27. Chelation in β -Thalassaemia Intermedia Patients (n=103) NONE 84, 81.55% DEFERIPRONE 10, 9.71% COMBINE DESFERRIOXAMINE AND DEFERIPRONE 9, 8.74%

  28. Hydroxyurea In Beta-Thalassaemia Intermedia Patients (n=103) PATIENTS TAKING HYDROXYUREA 27,(26%) PATIENTS NOT TAKING HYDROXYUREA 76,(74%)

  29. Glucose Metabolism in β -Thalassaemia Intermedia Patients (n=103) 6 6 1 Diabetes mellitus Fasting hyperglycemia Impaired glucose tolerance

  30. Liver Enzymes in β -Thalassaemia Intermedia Patients (n=103) 80.58% 61.17% 83 63 37.86% 26.21% 39 27 Raised Alanine Transaminase Raised Aspartate Transaminase Raised Serum Billirubin Raised alkaline phosphatase

  31. Serum Calcium, Phosphate, Uric Acid and • Lactate Dehydrogenase (LDH) of • β -Thalassaemia Intermedia Patients (n=103) 70 48 47

  32. Hepatitis and HIV Serology in β-Thalassaemia Intermedia Patients (n=103)

  33. ß-thalassaemia Mutation Analysis in β-Thalassaemia Intermedia Patients (n=103) 29 29 19 6 G to T mutation at Position 1 of intron 1 (IVS-1) Frameshift codon 41 and 42 (-TCTT) Non-sense mutation A toT at condon 17 G to C mutation at position 5 of IVS-1

  34. CONCLUSION WHAT THIS STUDY ADDS TO CURRENT LITERATURE?

  35. Most Myanmar β-TI are HbE β –TI • Transfusion requirement and complications are widely variable • Regular transfusion is needed in only 45% • Alloimmunisation ~ 10% • Chelation is needed in > 50% • Hepatitis seropositivity was not common

  36. β–thalassaemia mutations were not so much complex as four β–thalassaemia mutations found in 83/103 • consistent with findings in previous studies. • This information, in conjunction with the information from previous studies, is not only of great interest from scientific, genetic and evolutionary point of view, but also of great value to the field of screening, which in turn is of great importance in premarital diagnosis, pre-implantational diagnosis, and prenatal diagnosis in implementing thalassaemia prevention programs

  37. RECOMMENDATIONS • Decision to transfuse or not to transfuse should be based on individual patient and should be judged by experienced clinician as both has its own pros and cons • Detailed studies for genetic modifiers for β-TI like alpha-thalassaemia mutations and others should also be conducted

  38. THANK YOU

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