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泰国患者中 Hb Korle-Bu(β(73);天冬酰胺-天冬氨酸)和 Hb E(β(26);谷氨酸-赖氨酸)的复合杂合性与 3.7 kb 缺失型α地中海贫血

Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients.

作者信息

Changtrakun Y, Fucharoen S, Ayukarn K, Siriratmanawong N, Fucharoen G, Sanchaisuriya K

机构信息

Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand 40002.

出版信息

Ann Hematol. 2002 Jul;81(7):389-93. doi: 10.1007/s00277-002-0485-0. Epub 2002 Jul 3.

Abstract

Hemoglobin (Hb) Korle-Bu (beta73; Asp-Asn) is the most frequent of the rare beta-chain variants in the population of West Africa whereas Hb E (beta26; Glu-Lys) is common among the Southeast Asian population. We report a hitherto undescribed condition in which these two beta-chain variants co-segregate. The proband was a 19-year-old Thai pregnant woman in her second trimester of pregnancy who visited our thalassemia screening unit. Cellulose acetate electrophoresis and high-performance liquid chromatography (HPLC) analysis of Hb detected one abnormal Hb in addition to the Hb E. Analysis of DNA sequences revealed a GAT-AAT mutation at codon 73 in trans to a GAG-AAG mutation at codon 26 of the beta-globin gene. Polymerase chain reaction (PCR) analysis of the alpha-globin gene cluster of the patient detected a 3.7-kb deletional alpha-thalassemia 2. Family study identified that her mother had the same genotype and her father was a simple Hb E carrier. The hematological data of these unusual cases of hemoglobinopathy are presented and compared with a simple heterozygote for Hb Korle-Bu found in another unrelated Thai family. beta-Globin gene haplotype linked to the Thai beta(Korle-Bu) and a simple DNA assay based on allele-specific PCR for rapid diagnosis of Hb Korle-Bu are also described.

摘要

血红蛋白(Hb)科勒 - 布(β73;天冬酰胺替换天冬氨酸)是西非人群中最常见的罕见β链变异体,而Hb E(β26;赖氨酸替换谷氨酸)在东南亚人群中很常见。我们报告了一种此前未被描述的情况,即这两种β链变异体共同分离。先证者是一名19岁处于妊娠中期的泰国孕妇,她前来我们的地中海贫血筛查单位就诊。对血红蛋白进行醋酸纤维素电泳和高效液相色谱(HPLC)分析,结果显示除了Hb E外还检测到一种异常血红蛋白。DNA序列分析揭示,β珠蛋白基因第73密码子处存在GAT - AAT突变,与第26密码子处的GAG - AAG突变呈反式排列。对该患者的α珠蛋白基因簇进行聚合酶链反应(PCR)分析,检测到一个3.7 kb缺失型α地中海贫血2。家系研究表明,她的母亲具有相同的基因型,而她的父亲是单纯的Hb E携带者。本文展示了这些血红蛋白病罕见病例的血液学数据,并与在另一个不相关的泰国家庭中发现的单纯Hb科勒 - 布杂合子进行了比较。还描述了与泰国β(科勒 - 布)相关的β珠蛋白基因单倍型以及基于等位基因特异性PCR用于快速诊断Hb科勒 - 布的简单DNA检测方法。

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