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Stem Cell Transplant for Hemoglobinopathies

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Basics of Hematopoietic Stem Cell Transplant

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Abstract

Hemoglobinopathies include all genetic diseases leading to abnormal hemoglobin production. Thalassemia and sickle cell disease (SCD) are the two most common hemoglobinopathies worldwide. Patients with thalassemia major present within 6–9 months of life with severe anemia, and if not treated with regular blood transfusions, die within the first 2 years. Allogeneic stem cell transplant (allo SCT) is the definitive cure for thalassemia major and should be considered early in the disease course. Myeloablative conditioning (MAC) is the most preferred regimen for hemoglobinopathies. Busulfan is an alkylating agent which has high specificity for the most primitive precursors of the myeloid–erythroid axis. Allo SCT can cure sickle cell disease patients, with a cure rate of 85% for sibling matched sibling donor (MSD) SCT in children with age less than 16 years. MAC is the most commonly used regimen for SCD transplants, but this can result in toxicities such as growth impairment, gonadal hypofunction, and sterility. In contrast, reduced intensity conditioning (RIC) regimens are associated with a more favorable toxicity profile but can be associated with higher rates of graft rejection. However, given the similar survival rates and tolerability of a RIC/NMA approach, a less toxic approach may be preferred.

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  1. Department of Hemato-oncology and Bone Marrow Transplantation, Venkateshwar Hospital, New Delhi, Delhi, India

    Sanjeev Kumar Sharma

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Sharma, S.K. (2023). Stem Cell Transplant for Hemoglobinopathies. In: Basics of Hematopoietic Stem Cell Transplant. Springer, Singapore. https://doi.org/10.1007/978-981-19-5802-1_28

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