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Current status of Thalassaemia major

Current status of Thalassaemia major. Chi-Kong Li, MD. Chief, Division of Haematology/Oncology/BMT, Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong. Modern Transfusion Management of Thalassaemia Major. Regular transfusion, maintain Hb >9.5 g/dl.

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Current status of Thalassaemia major

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  1. Current status of Thalassaemia major Chi-Kong Li, MD. Chief, Division of Haematology/Oncology/BMT, Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong.

  2. Modern Transfusion Management of Thalassaemia Major • Regular transfusion, maintain Hb >9.5 g/dl. • Safe transfusion : • Leucocyte removal filter (pre-storage), <5x106 Transfusion reaction, alloimmunisation • Screening for infectious disease. • 2-6 weeks interval to suppress bone marrow activity, promote normal growth.

  3. Iron overload • 1.16 mg iron in 1 ml pure red cells (Hct) • iron accumulation proportional to volume of blood transfused, • a 30 kg child may receive 4-8 gm iron /yr, • increase iron absorption from gut, • normal adult total body iron 55 mg/kg, (4.0gm) • no excretory pathway for excessive iron

  4. Morbidity in Thalassaemia Major Patinets (I) • Endocrine: • Hypogonadism : 55% >15 years. • Diabetes Mellitus : 6-8%. • Hypothyroidism (Subclinical) : 11% • Hypoparathyroidism : 5% • Short Stature : (<3%, corrected for parental height). • Multiple factors 25-50%. (Endocrine and bone changes)

  5. Morbidity in Thalassaemia Major Patinets (II) • Liver disease: HCV infection (Italy) • HCV +ve >14 years: 88% <14 years: 28% • 75% showed chronic hepatitis. • Cardiac disease: • Symptomatic 8.5% • Echocardiographic abnormalies 20-60%.

  6. Menstruation Problems in Thalassaemia Females • Primary amenorrhoea 50% • Secondary amenorrhoea 20% • Memarche and regular menses 30%

  7. Figure 1: KAPLAN MEIER SURVIVAL ANALYSIS ON 257 CONSECUTIVE TRANSFUSION-DEPENDENT BETA THALASSEMIC PATIENTS IN TORINO H = 147 L = 64 Cox’s F test = 1.7 p<0.03 Piga A, Torino, Italy BMT, 1997, 19(S2):11-13.

  8. Current Status in Hong Kong : Thalassaemia Major • 293 patients • Age : 0-5 yr : 18 (6.1%) 6-10 yr : 45 (15%) 11-15 yr : 71 (24%) 16-20 yr : 69 (23%) 21-30 yr : 89 (30%) • Regular chelation started since early 1980s.

  9. Morbidity among H.K. Thalassaemia Patients Heart failure : 21 patients (7.3%) Diabetes mellitus: 18 patients (6%) Hepatitis B carrier: 3 (1%) Hepatitis C carrier: 47 (16%)

  10. Diabetes in TM

  11. Complications of TM according to age

  12. Endocrine complications (PWH, QEH, PMH, N=232) HKMJ 2002, 8:255-60

  13. Ht Standard Deviation Score HKMJ 2002, 8:255-60

  14. Bone diseases in TM • Desferrioxamine induced in properly transfused and chelated patients, • metaphyseal sclerosis, platyspondyly, bone infarct. • plain X-ray, ultrasound, MRI. • 16 of 41 patients showed varying degree of dysplasia. Pediatr Radiol 2002, 32:492-7

  15. Death : 1996 -2000 • 17 deaths over past 5 years • 11 due to cardiac diseases • 5 died as complication of bone marrow transplantation • 1 died after klebsiella meningitis

  16. BMT for Thalassaemias • Eradicate the pathological marrow by mega-dose chemotherapy. • Replacement of a new healthy haematopoietic system (HLA-Identical sibling). • Transfusion independent. • Free from transfusion related complications. • Improved quality of life-physical and psychosocial.

  17. Disease Free Survival Thalassaemia after BMT 1.0 .9 .8 .7 .6 Probability of Survival .5 .4 .3 .2 Survival Function .1 DFS 84% 0.0 0 20 40 60 80 100 Duration of follow up in months BMT 2002, 29:101-5

  18. Disease free survival according to age 1.0 90% .9 86% .8 .7 62.5% Age at BMT .6 Probability of survival 10-16 yr (n-=15) .5 .4 > 16 yr (n=8) .3 .2 < 10 yr (n=21) .1 0.0 0 20 40 60 80 100 Duration of follow up in months BMT 2002, 29:101-5.

  19. Disease Free survival according to Class 100% 1.0 .9 84% .8 .7 CLASS .6 57% Class 3 (n=7) Probability of Survival .5 .4 Class 2 (n=25) .3 .2 Class 1 (n=8) .1 0.0 0 20 40 60 80 100 Follow up in months (02/2000)

  20. Changes of Ht after BMT: PWH experience Ped Hematol Oncol 2004, 21:411-9.

  21. Conventional Treatment • Improved survival, • still with complications from iron overload and treatment, • poor compliance not uncommon esp at adolescent age group, • mortality does happen, life expectancy not sure (>40 years) • quality of life sub-optimal.

  22. Future of Management of Thalassaemia major • Oral chelators - as second line treatment, not first line treatment yet.. • More safe BMT • Extension of BMT to alternative donors: unrelated bone marrow donor or cord blood. • Gene therapy.

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