A Presentation of a Case of Hb E Homozygosity

Mohamed Samir M Khalil

doi:10.26717/bjstr.2021.37.006079

Abstract

Awad M Al Qahtani1, Essam M Ahmed2 and Mohamed Samir M Khalil3* Author Affiliations 1Department of Family and Community Medicine, College of Medicine, Najran University, Najran, Saudi Arabia 2Pharmaceutical Division, National Research Centre, Egypt, Faculty of Applied Medical Sciences, Najran University, Najran, Saudi Arabia 3Department of Clinical Pathology, Faculty of Medicine, Assiut University, Assiut, Egypt Received: August 02, 2021 | Published: August 09, 2021 Corresponding author: Mohamed Samir M Khalil, Department of Clinical Pathology, Faculty of Medicine, Assiut University, Assiut, Egypt DOI: 10.26717/BJSTR.2021.37.006079

Highlights

Almost a total of 1317 Hb variants have been identified (HbVar database) [1], the four most common worldwide are Hb S, Hb E, Hb C, and Hb D, in the order of decreasing prevalence [2]
The other one is the thalassemic compartment with excess α globin chain leading to a mild haemolytic anaemia .Considering history, ethnic origin, clinical findings and laboratory findings of the patient, the diagnosis was consistent with Hb E homozygosity
The presence of small peaks on high performance liquid chromatography (HPLC) was explained by post-translational modification of Hb E13

Summary

Introduction

Almost a total of 1317 Hb variants have been identified (HbVar database) [1], the four most common worldwide are Hb S, Hb E, Hb C, and Hb D, in the order of decreasing prevalence [2]. The prevalence of HbE in India is about 3.5% with an increased clustering in Kolkata (22%) and Assam (50-80%) [7]. Hb E results from a G→A substitution in codon 26 of the β globin gene. This produces an abnormal Hb (glutamate is replaced by lysine) and activates a cryptic splice site at codon 25-27 of the β-globin gene, resulting in abnormal processing for messenger RNA (mRNA). The level of normally spliced mRNA become reduced and because a new stop codon is generated, the abnormally spliced mRNA become nonfunctional [7,8]

Objectives

Findings

Conclusion