Literature DB >> 29251016

Hb A2-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A2-β-Thalassemia Trait.

Gui-Lan Chen1, Lv-Yin Huang1, Jian-Ying Zhou1, Dong-Zhi Li1.   

Abstract

Coinheritance of δ-globin variants along with β-globin gene defects can interfere with correct diagnosis of β-thalassemia (β-thal) trait. In this report, we present the coinheritance of a δ-globin variant, Hb A2-Tianhe [δ107(G9)Gly→Asp; HBD: c.323G>A] and a heterozygous β-thal in a Chinese individual with microcytosis, hypochromia and a normal Hb A2 level.

Entities:  

Keywords:  Hb A2-Tianhe; β-Thalassemia (β-thal); δ chain hemoglobin (Hb) variant

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Year:  2017        PMID： 29251016     DOI： 10.1080/03630269.2017.1398170

Source DB:  PubMed          Journal:  Hemoglobin        ISSN： 0363-0269            Impact factor:   0.849


  2 in total

1.  Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.

Authors:  Jie Zhang; Yang Yang; Peng Li; Yuanlong Yan; Tao Lv; Tingting Zhao; Xiaohong Zeng; Dongmei Li; Xiaoyan Zhou; Hong Chen; Jie Su; Tonghua Yang; Jing He; Baosheng Zhu
Journal:  Mol Genet Genomic Med       Date:  2019-05-01       Impact factor: 2.183

2.  Genetic research and clinical analysis of deletional Chinese Gγ+(Aγδβ)0 -thalassemia and Southeast Asian HPFH in South China.

Authors:  Yuanjun Wu; Qianyu Yao; Ming Zhong; Jianying Wu; Longxu Xie; Linnan Su; Fubing Yu
Journal:  Ann Hematol       Date:  2020-09-15       Impact factor: 3.673
  2 in total

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