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    ScientificWorldJournal. 2009 Jul 13;9:615-25.

    Variable clinical phenotypes of alpha-thalassemia syndromes.

    Singer ST.

    Hematology/Oncology Department, Children's Hospital and Research Center (CHRCO), Oakland, CA, USA. tsinger@mail.cho.org

    Genetic mutations of the alpha genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of alpha-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 alpha-thalassemia variants) call for more attention for improved screening methods and better care.

    PMID: 19618088 [PubMed - indexed for MEDLINE]

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