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Review Article | Open Access
Sylvia Titi Singer, "Variable Clinical Phenotypes of α-Thalassemia Syndromes", The Scientific World Journal, vol. 9, Article ID 529605, 11 pages, 2009. https://doi.org/10.1100/tsw.2009.69
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 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.