复合杂合子Hb Tak/Hb E在一个泰裔家庭中导致继发性红细胞增多症。
Compound heterozygous Hb Tak/Hb E causes secondary erythrocytosis in a Thai family.
作者信息
Teawtrakul Nattiya, Sirijirachai Chittima, Chansung Ganjana, Fucharoen Goonnapa
机构信息
Hematology Division, Department of Internal Medicine, Srinagarind hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
出版信息
Hemoglobin. 2010 Jan;34(2):165-8. doi: 10.3109/03630261003680498.
Hb Tak is a rare cause of secondary erythrocytosis. It results from the insertion of two nucleotides (AC) at the termination codon between codon 146 and codon 147 of the beta-globin gene. This insertion causes a frameshift in the terminating codon 147 resulting in an elongated beta chain with an impaired formation of the T-state. We report a Thai family with a compound heterozygosity for Hb Tak [beta147 (+ AC)] and Hb E [beta26(B8)Glu-->Lys] which displayed an asymptomatic erythrocytosis.
Hb Tak是继发性红细胞增多症的罕见病因。它是由β-珠蛋白基因第146密码子和第147密码子之间的终止密码子插入两个核苷酸（AC）所致。这种插入导致终止密码子147发生移码，从而产生延长的β链，T态形成受损。我们报告了一个泰裔家庭，该家庭具有Hb Tak [β147（+AC）]和Hb E [β26（B8）Glu→Lys]的复合杂合性，表现为无症状性红细胞增多症。
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