A silent composite hemoglobinopathy characterized by gene sequencing

A Zorai; I Moumni; I Benmansour; D Chaouachi; A Ghanem; S Abbes

A silent composite hemoglobinopathy characterized by gene sequencing

Arch Inst Pasteur Tunis. 2011;88(1-4):67-70.

Authors

A Zorai¹, I Moumni, I Benmansour, D Chaouachi, A Ghanem, S Abbes

Affiliation

¹ Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis.

PMID: 23461145

Abstract

We report the case of a 35-year-old Tunisian women with a chronic anemia non investigated for a long time. Laboratory analysis using advanced technology of DNA sequencing revealed a compound heterozygote for Hb O Arab and cd 39 beta degrees-thalassemia. It's the first time that such a genotype has been characterized by gene sequencing.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Hemoglobinopathies / genetics*
Humans
Sequence Analysis, DNA