由于罕见的α2-珠蛋白变体Hb Sallanches纯合导致的血红蛋白H病。
Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.
作者信息
Warang Prashant, Nair Sona, Nadkarni Anita, Ghosh Kanjaksha, Colah Roshan B
机构信息
National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus, Mumbai, India.
出版信息
Hemoglobin. 2010;34(1):45-8. doi: 10.3109/03630260903547526.
PMID:20113287
Abstract
We report a 6-year-old child with Hb H disease due to homozygosity for Hb Sallanches [alpha104(G11)Cys-->Tyr], an unstable alpha2 chain variant. This child presented with a hemolytic anemia of intermediate severity and had never been transfused. This variant often remains undetected in the heterozygous state.
摘要
我们报告了一名6岁儿童，因纯合子状态的Hb Sallanches [α104(G11)半胱氨酸→酪氨酸]（一种不稳定的α2链变体）而患有Hb H病。该患儿表现为中度溶血性贫血，从未接受过输血治疗。这种变体在杂合子状态下通常难以被检测到。
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