Publication:
Hb lepore/beta(0)-thalassaemia with alpha(+)-thalassaemia interactions, a potential diagnostic pitfall

No Thumbnail Available

Date

2015

Journal Title

Journal ISSN

Volume Title

Publisher

Malaysian Journal Pathology

Research Projects

Organizational Units

Journal Issue

Abstract

Haemoglobin (Hb) Lepore is a variant Hb consisting of two alpha-globin and two delta beta-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/beta-thalassaemia and co-inheritance alpha(+)-thalassaemia (-alpha(3.7)). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.

Description

Keywords

Hb Lepore, beta-thalassaemia, alpha(+)-thalassaemia

Citation