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

alpha-Thalassemia major (ATM) is a severe disease resulting from deletions in all 4 copies of the alpha-globin gene. Although it is usually fatal before birth, the advent of in utero transfusions has enabled survival of a growing number of children. Postnatal therapy consists of chronic transfusions or stem cell transplantation, similar to patients with beta-thalassemia major. In this review, we discuss the experience with postnatal stem cell transplantation in patients with ATM, as well as the ongoing phase 1 clinical trial of in utero stem cell transplantation for this condition.

Automated summary

Alpha-Thalassemia major is a severe disease caused by deletions in all 4 copies of the alpha-globin gene. Although usually fatal before birth, the introduction of in utero transfusions has increased survival rates for affected children. Postnatal therapy involves chronic transfusions or stem cell transplantation similar to beta-thalassemia major patients.