一种罕见的由 --(SEA) 和 16.6 kb α地中海贫血2缺失导致的血红蛋白H病。
A rare Hb H disease due to the - -(SEA) and 16.6 kb α-thalassemia-2 deletions.
作者信息
Sroymora Suravee, Jindadamrongwech Sumalee, Butthep Punnee, Chuncharunee Suporn
机构信息
Blood Disease Diagnostic Center, Hematology Division, Department of Pathology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
出版信息
Hemoglobin. 2012;36(2):200-4. doi: 10.3109/03630269.2012.655355. Epub 2012 Feb 29.
PMID:22376301
Abstract
A large deletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai woman with Hb H disease. The proband has α-thal-1 (SEA type) in conjunction with a 16.6 kb deletion affecting the α2-globin allele. The proband had severe anemia and required a blood transfusion during puerperium.
摘要
在一名患有血红蛋白H病的泰国女性中鉴定出一个大的缺失型α地中海贫血-2（α-thal-2）等位基因。先证者携带α地中海贫血-1（SEA型），同时伴有一个影响α2-珠蛋白等位基因的16.6 kb缺失。先证者患有严重贫血，产褥期需要输血。
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