Novel Point Mutation of the α2-Globin Gene (HBA2) and a Rare 2.4 kb Deletion of the α1-Globin Gene (HBA1), Identified in Two Chinese Patients with Hb H Disease
نویسندگان
چکیده
منابع مشابه
2.4-kb Deletion of Α1-globin Gene (hba1) Identified in Two Chinese Patients with Hemoglobin H Disease
Two Chinese patients with mild and moderate hemoglobin (Hb) H disease were investigated for rare mutations in the α-globin genes (HBA1, HBA2) in addition to --(SEA) deletion. One patient was a 41-year old man with mild anemia (Hb 11.3 g/dl). Multiplex ligation-dependent probe amplification (MLPA) revealed a rare 2392-base deletion involving the entire HBA1. Mapping by gap-polymerase chain react...
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ژورنال
عنوان ژورنال: Hemoglobin
سال: 2014
ISSN: 0363-0269,1532-432X
DOI: 10.3109/03630269.2014.894478