Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the – –SEA (Southeast Asian) α-Thalassemia Deletion-Reference-Cited by-同舟云学术

Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the – –SEA (Southeast Asian) α-Thalassemia Deletion

Published:2019-09-03 Issue:4-5 Volume:43 Page:286-288
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Chen Wei-Dong¹,Ren Yu-Xiang²,Wang Ya-Jun³,Xie Wei-Jie¹,Li Jie¹,Xu An-Ping¹^ORCID,Ji Ling¹

Affiliation:

1. Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People’s Republic of China;

2. Department of Sport Medicine, Peking University Shenzhen Hospital, Shenzhen, People’s Republic of China;

3. Public Health Laboratory Centre, Kowloon, Hong Kong

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2019.1680383

Reference9 articles.

1. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

2. Effects of Hemoglobin (Hb) E and HbD Traits on Measurements of Glycated Hb (HbA1c) by 23 Methods

3. A Simple Method for the Detection of Unstable Haemoglobins

4. Diagnostic approaches to apparent homozygosity

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1. First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families;Hematology;2022-08-08

2. A New α Chain Variant, Hb Heilongjiang (HBA2: c.49A>C), Found During Hb A1c Measurement;Hemoglobin;2020-03-03