Pregnancy and Childbirth: An Unexpected Cakewalk for a Mother With Beta Thalassemia Major Homozygous for IVS (G-C) Mutation

摘要

The thalassemias are the most common single-gene disorders of hemoglobin synthesis. The salient features of beta thalassemia major, in which both alleles?of the HBB gene are affected, are transfusion dependency and iron overload. Although with advances in treatment, the life expectancy in such patients has increased, they have difficulty in conceiving. We report a case of pregnancy in a beta thalassemia major patient who was transfusion independent and had no iron overload. Genetic analysis revealed IVS 1-5 (G-C) mutation in the homozygous state which usually manifests in severe disease and blood transfusion dependency. On the contrary, she did not need blood transfusion, had a smooth antenatal period and a vaginal delivery at term with a favorable childbirth experience. This case report highlights complex genetic interplay and the role of fetal hemoglobin (HbF)?enhancer loci which modulates HbF levels thereby?raising total hemoglobin levels.