基因型
复合杂合度
血红蛋白
地中海贫血
突变
杂合子优势
产前诊断
血红蛋白病
医学
遗传学
珠蛋白
α地中海贫血
基因检测
生物
内科学
β地中海贫血
分子生物学
胃肠病学
溶血性贫血
基因
怀孕
胎儿
作者
Jun Yang,Huawei Wang,Zunyue Zhang,Qian Yuan,Lan Zhang,Ling Lü,Kunhua Wang
出处
期刊:PubMed
日期:2020-01-10
卷期号:37 (1): 33-36
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.01.009
摘要
To explore hematological and genotypic characteristics of patients with hemoglobin E (Hb E) disorders from Yunnan Province.One hundred individuals with Hb E disorders indicated by high performance liquid chromatography (HPLC) were subjected to genetic testing through multiple gap-PCR and reverse dot-blotting analysis.All patients were found to harbor a mutation to the 26th codon of the β -globin chain (HBB: c.79G>A). Ninety patients were heterozygotes, and 10 co-inherited c.79G>A and an α -thalassemia mutation (7 α α /-α3.7, 2 α α /--SEA and 1 -α 3.7/-α3.7). Hematological characteristics of the heterozygotes were: Hb A2 (26.02±3.64)%, Hb F(1.35±1.25)%, MCV(78.83±4.68) fl, MCH(26±1.54) pg, MCHC (329.65±10.73) g/L, HGB (141.08±16.53) g/L, while that of the co-inherited cases was decided by the type of α -thalassemia mutation.Hb E can be effectively detected by HPLC. The type of α -thalassemia mutations will determine hematological features of co-inherited cases. Hb E disorders may be missed by relying only on routine blood test upon prenatal screening.
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