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TheScientificWorldJOURNAL
Volume 9 (2009), Pages 615-625
http://dx.doi.org/10.1100/tsw.2009.69
Review Article

Variable Clinical Phenotypes of α-Thalassemia Syndromes

Hematology/Oncology Department, Children's Hospital and Research Center (CHRCO), Oakland, CA, United States

Received 31 October 2008; Revised 1 June 2009; Accepted 5 June 2009

Academic Editor: Susan Perrine

Copyright © 2009 Sylvia Titi Singer.

Abstract

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.