Advances in the management of α - thalassemia major: Reasons to be optimistic

Abstract

α-Thalassemia major (ATM) is a severe dis ease resulting from dele tions in all 4 cop ies of the α - glo bin gene. Although it is usu ally fatal before birth, the advent of in utero trans fu sions has enabled sur vival of a grow ing num ber of chil dren. Postnatal ther apy consists of chronic transfusions or stem cell transplantation, similar to patients with α - thalassemia major. In this review, we dis cuss the expe ri ence with post na tal stem cell trans plan ta tion in patients with ATM, as well as the ongo ing phase 1 clin i cal trial of in utero stem cell trans plan ta tion for this con di tion.