Compound heterozygous recessive thalassemia intermedia unusual presentation: a case report

Abstract

About 3% of the world’s population carry β-Thalassemia genes. More than 200 mutations have been described, majority are point mutations and also some rare cases of gene deletion (17 deletions) have been reported. Those with Compound heterozygous inheritance present with two different mild β-thalassemia alleles and borderline RBC indices. We report a pre-adolescent girl with β-thalassemia intermedia who became transfusion dependent and developed alloimmunization.

This case is presented to highlight the fact that compound heterozygousity is a possible entity in a non-consanginous parentage and may present with subtle clinical features and minimal laboratory evidence and those children who start receiving transfusion later in their life are more prone for alloimmunization.