Detection of a Novel Gene Mutation for Hereditary Elliptocytosis

Abstract

Hereditary elliptocytosis (HE) is usually an autosomal dominant inherited hemolytic condition that is characterized by heterogeneous clinical course. Majority of the cases of HE are due to genetic defects affecting α-spectrin, β-spectrin or protein 4.1. Phenotypic expressivity can be different in different patient for single gene mutation i.e. different individuals with the same genotype can have more or less severe phenotype. I am reporting a heterozygous partial deletion in the EPB41 gene that was detected in a patient whose peripheral blood smear was consistent with HE and the deletion encompassed at least exons 10 to 16. This EPB41 deletion has not been previously reported in literature. Erythroid precursors in bone marrow of HE patients are round without any morphologic abnormalities which suggests elliptical shape of elliptocytes develop during the normal aging process of red blood cell (RBC) in circulation. The morphological changes seen in RBCs in HE do not necessarily shorten the lifespan of all patients with HE. *Correspondence to: Md Serajul Islam, MD, MRCP, FRCPath, Consultant Hematologist, Department of Hematology, Guy’s Hospital and Queens Hospital, RM7 0AG, London, UK, Tel: (+44)7769580452; E-mail: serajul@doctors.org.uk