关键词:地中海贫血;HbH 病;突变;家系;基因诊断 Hemoglobin H disease with a rare α-thalassemia gene mutation (--SEA/α*92A>Gα): pedigree analysis and genetic diagnosis YAN Shanhuo1, LAO Kegan1, FU Kepeng1, GONG Feifei1, WEN Xiaojun2, ZHOU Wanjun2 1Qingzhou Maternal and Child Healthcare...
The single patient with the (αNcoα/αNcoα) genotype had a clinical phenotype intermediate between HbH disease and the α-thalassemia carrier status. This heterogeneity depends on the fact that the α2-globin gene produces 2-3 times α-globin chains than the α1-gene and the single ...
China【Abstract】 Objective Alpha2thalassemia is one of the most common monogene disorders in the world 1Most frequently , it is caused by deletions of alpha2globin gene (2 α or 22) , and less commonly resulted from thenon2deletional mutation( αTα)1 Hemoglobin H (HbH) disease is the...
Conclusion For the patients with low MCV and without HbH disease or with normal HbA2,α and β globin geneanalysis is necessary.〔Key words〕 Thalassemia;HbH disease;β-thalassemia;Gene diagnosis血红蛋白 H 病(HbH 病)是一种中间型 α-地中海贫血,从分子水平上可分为缺失型与非缺失型两类〔1〕 ...
Summary. Globin gene mapping in 16 Greek individuals with HbH disease and their parents has demonstrated the occurrence of several HbH genotypes brought about by the interaction of two α+-thalassaemia and two α+-thalassaemia haplotypes. Eight of the 16 patients had the genotype Med/ -α3.7, ...
Conclusion For the patients with low MCV and without Hb H disease or with normal Hb A2,α and β globin gene analysis is necessary. 展开 关键词: Thalassemia Hb H disease β-thalassemia Gene diagnosis 被引量: 1 年份: 2015 收藏 引用 批量引用 报错 分享 ...
一种罕见α-地贫基因突变HbH病(--SEA/α*92A>Gα)的家系分析与基因诊断 颜善活,劳可干,符可鹏,龚菲菲,温晓君,周万军 Hemoglobin H disease with a rare α-thalassemia gene mutation (--SEA/α*92A>Gα): pedigree analysis and genetic diagnosis 南方医科大学学报 . 2016, (09): 1295 ....
It removes the major regulatory elements along with the functional -globin genes but leaves the theta-gene intact.Conclusions: The compound interaction of a β-thalassemia defect along with a single functional -globin gene is quite rare. Although patients with HbH/β-thal and simple HbH disease ...
Analysis of the molecular basis of HbH disease in a black family revealed the non-functional gene to be entirely α1 like, with a single nucleotide change in the initiation codon (A←G). This represents the first assignment of a non-deletion mutation in this racial group and the first ...
Furthermore, novel genetic therapeutic approaches for modulating the severity of thalassemias, like gene editing, are in progress [38]. Hence, there is still an unmet need for new, alternative, and effective therapeutic strategies for treatment of this life-limiting disease to render patients be ...