Variable Clinical Phenotypes of α-Thalassemia Syndromes

Author:

Singer Sylvia Titi1

Affiliation:

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

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.

Publisher

Hindawi Limited

Subject

General Environmental Science,General Biochemistry, Genetics and Molecular Biology,General Medicine

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