Novel Point Mutation of the α2-Globin Gene (HBA2) and a Rare 2.4 kb Deletion of the α1-Globin Gene (HBA1), Identified in Two Chinese Patients with Hb H Disease-Reference-Cited by-同舟云学术

Novel Point Mutation of the α2-Globin Gene (HBA2) and a Rare 2.4 kb Deletion of the α1-Globin Gene (HBA1), Identified in Two Chinese Patients with Hb H Disease

Published:2014-05-14 Issue:3 Volume:38 Page:213-215
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

So Chi-Chiu,Chan Amy Y. Y.,Ma Edmond S. K.

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2014.894478

Reference5 articles.

1. A laboratory strategy for genotyping haemoglobin H disease in the Chinese

2. Detection and characterisation of -globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification

3. Clinical and molecular characterization of a rare 2.4kb deletion causing α+ thalassemia in a Chinese family

4. A novel α-thalassemia-2 (−2.7-kb) observed in a chinese patient with Hb H disease

5. Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease

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2. Identification of Three Types of α-Thalassemia Deletion, –α21.9, –α2.4, and – –THAI, and Their Frequencies, in One Family in the Population of Southern Guangxi Zhuang Autonomous Region, People’s Republic of China;Hemoglobin;2018-01-02

3. Rapid diagnosis of common deletional α-thalassemia in the Chinese population by qPCR based on identical primer homologous fragments;Clinica Chimica Acta;2016-05

4. Identification of the −α2.4Deletion in One Family and in One Hb H Disease Patient in Guangxi, People’s Republic of China;Hemoglobin;2016-03-17

5. α+-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup];Hemoglobin;2015-04-21