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- Title
Complex interactions of δβ hybrid haemoglobin (Hb Lepore-Hollandia) Hb E (β<sup>26 G→A</sup> ) and α<sup>+</sup> thalassaemia in a Thai family.
- Authors
Viprakasit, Vip; Pung-Amritt, Parichat; Suwanthon, Lerlugh; Clark, Kevin; Tanphaichitr, Voravarn S
- Abstract
Abstract: Haemoglobin Lepore-Hollandia is an extremely rare condition in which a small deletion gives rise to a δβ hybrid, β-like globin. There are two single reports of patients from South Pacific Islands and Bangladesh. We describe a family from central Thailand, in which this Hb Lepore-Hollandia interacts with a common β globin variant (βE resulting from the codon 26, G→A mutation) and α+ thalassaemia (-α3.7 ). This intriguing interaction caused a troublesome diagnosis, as the two proband brothers were diagnosed as having Hb E/β thalassaemia. Molecular analysis of genomic DNA performed in this study allowed the definitive diagnosis of this complicated interaction. Such studies are required in the diagnosis of thalassaemia and haemoglobinopathies for particular regions like South-east Asia, where many different genotypes may give rise to haemoglobin disorders.
- Subjects
THAILAND; HEMOGLOBINOPATHY; THALASSEMIA
- Publication
European Journal of Haematology, 2002, Vol 68, Issue 2, p107
- ISSN
0902-4441
- Publication type
Article
- DOI
10.1034/j.1600-0609.2002.01637.x