Haemoglobin lepore and beta thalassaemia traits – Prenatal testing by both sequence analysis and MLPA for HBB gene: A case report

Abstract

Hb Lepore is a fusion globin protein made of fused chains of delta and beta globin. It is a deletion haemoglobinopathy. In homozygote form, it is similar to transfusion dependent beta thalassaemia major, and in the heterozygous form, it causes mild microcytic hypochromic anaemia. In this case report, the couple has heterozygous Hb Lepore and heterozygous beta thalassaemia, with a pregnancy of 15weeks gestation. Prenatal testing by amniocentesis and HBB gene analysis for the fetus was done by sequencing and MLPA to detect the different types of mutations present in the parents. This case report reveals the importance of MLPA to be done along with sanger sequencing, to detect all types of mutations in the HBB gene.