Variable Clinical Phenotypes of α-Thalassemia Syndromes

Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H di...

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Bibliographic Details
Main Author: Sylvia Titi Singer
Format: Article
Language:English
Published: Wiley 2009-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1100/tsw.2009.69
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Summary:Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other α-thalassemia variants) call for more attention for improved screening methods and better care.
ISSN:1537-744X