GγAγ（δβ）0地中海贫血与胎儿血红蛋白遗传性持续存在的复合杂合子状态

Compound heterozygote state for GgammaAgamma(deltabeta) degrees -thalassemia and hereditary persistence of fetal hemoglobin.

作者信息

Fucharoen Supan, Panyasai Sitthichai, Surapot Satja, Fucharoen Goonnapa, Sanchaisuriya Kanokwan

机构信息

Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.

出版信息

Am J Hematol. 2005 Oct;80(2):119-23. doi: 10.1002/ajh.20426.

DOI:10.1002/ajh.20426

PMID:16184575

Abstract

We report a hitherto undescribed interaction of a deletional (deltabeta) degrees -thalassemia and a deletional hereditary persistence of fetal hemoglobin (HPFH) in an adult Thai individual. He was a 40-year-old Thai male who had the following hematologic data: Hb 13.9 g/dL, Hct 43.8%, MCV 78.0 fL, MCH 24.7 pg, MCHC 31.6 g/dL, and RDW 17.1%. Hemoglobin analysis revealed 97% Hb F with Ggamma-globin chain predominant. Globin gene analyses demonstrated that he carried the GgammaAgamma(deltabeta) degrees -thalassemia deletion in trans to the HPFH-6. Hematologic data of the patient were compared to those of the heterozygotes for these high-Hb F determinants found in his parents and an unrelated Thai patient with a compound HPFH-6/deletion-inversion Ggamma(Agammadeltabeta) degrees -thalassemia previously described.

摘要

我们报告了一名成年泰国个体中一种此前未被描述的缺失型（δβ）0-地中海贫血与缺失型胎儿血红蛋白遗传性持续存在（HPFH）的相互作用。他是一名40岁的泰国男性，其血液学数据如下：血红蛋白13.9 g/dL，血细胞比容43.8%，平均红细胞体积78.0 fL，平均红细胞血红蛋白含量24.7 pg，平均红细胞血红蛋白浓度31.6 g/dL，红细胞分布宽度17.1%。血红蛋白分析显示97%为Hb F，以Gγ-珠蛋白链为主。珠蛋白基因分析表明，他携带的GγAγ（δβ）0-地中海贫血缺失与HPFH-6呈反式。将该患者的血液学数据与在其父母中发现的这些高Hb F决定因素的杂合子以及一名先前描述的患有复合HPFH-6/缺失-倒位Gγ（Aγδβ）0-地中海贫血的无关泰国患者的数据进行了比较。