Age 14 years, β-thalassemia major
Contributed By: Dr. Imtenan Sharif
Abdul Mateen was diagnosed as a case of B-Thalassemia Major and received his first transfusion at 9 months of age. Iron chelation was started at 2 years of age. The patient then moved to Jeddah, Saudi Arabia with his family and was treated there till his return to Pakistan in 2008 at 14 years of age. It was then Mateen’s family came to know about bone marrow transplant facility at AFBMTC.
Mateen was found to have a perfect HLA match with his only sibling. Pretransplant work up revealed positive PCR for HCV RNA; ALT was 76 U/l and ultrasound abdomen demonstrated mild texture changes in liver with splenomegaly. There was mild fibrosis on liver biopsy. Serum ferritin was 3118 ng/ml. There was minor ABO incompatibility (Patient’s blood group AYE Positive; Donor’s blood Group OOO Positive). The patient was placed in Pesaro risk class III and conditioning consisted of a 45 days long protocol for B-Thalassemia major with Hydroxyurea, Azathioprine, Fludarabine, Cyclophosphamide and Busulphan. He tolerated conditioning well and was given cyclosporine, methylprednisolone and methotrexate for GvHD prophylaxis. Mateen underwent allogeneic bone marrow transplant on 15 June, 2009.
Post-transplant period was unremarkable with slight delay in engraftment and grade I skin GvHD. STR for donor chimerism remained more than 90% and lymphocyte subset analysis demonstrated good immune reconstitution. Once off immunosuppression, the patient was treated for HCV with interferon and ribavirin. He was vaccinated after treatment for hepatitis C.
Mateen is currently doing his BBA from a prestigious university in Pakistan and enjoys good quality of life with his family.