Outcomes of fetuses with alpha thalassemia major after in utero transfusion in a single institution

Alpha thalassemia major (Hb Bart's syndrome) is one of the most common single gene disorders, once considered to be a lethal condition. Recent advances in prenatal and postnatal care have resulted in successful treatment options for this condition in the form of in utero transfusion followed by postnatal hematopoetic stem cell transplant. The aim of this study was to examine the outcomes of fetuses with alpha thalassemia major who had undergone in utero transfusion in our institution. All pregnancies complicated by fetuses with alpha thalassemia major who underwent in utero transfusion from year 2015 to 2023 in our institution were included. Patient and parent characteristics, intrauterine interventions, perinatal course, presence of congenital malformations and hematopoetic stem cell transplantation details were reviewed. Three pregnancies complicated by fetuses with alpha thalassemia major underwent in utero transfusions, 2 of whom were female and 1 male. Two of the earlier pregnancies had in utero transfusion performed once in the antenatal period, while the third had in utero transfusion performed three times antenatally at a monthly interval with the aim of improving neurodevelopmental outcomes. All three transfusions led to successful correction of the anemia, treatment of hydrops and successful livebirths, with the two earlier pregnancies being complicated by growth restriction, which was not observed in the third. Hypospadias was identified in the male infant. Hematopoetic stem cell transplant was performed in two of the three patients at 2 years and 1 year of life, with the third patient currently awaiting sufficient maturity to undergo the procedure. Fetal therapy in the form of in utero transfusion followed by hematopoetic stem cell transplant can impact positively on survival rates and outcomes of fetuses with alpha thalassemia major. Detailed antenatal counselling of parents of all available treatment options of fetuses affected by alpha thalassemia major should be the new standard of care.