First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene-Reference-Cited by-同舟云学术

First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene

Published:2018-11-02 Issue:5-6 Volume:42 Page:344-346
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

He Xiao-Hong¹,Zhang Rui¹,Mai Guang-Xing¹,Ren Li-Rong²,Li Dong-Zhi³

Affiliation:

1. Prenatal Diagnosis Unit, Shenzhen Baoan Maternal and Child Health Hospital, Shenzhen, Guangdong Province, People’s Republic of China;

2. Department of Obstetrics, Shenzhen Baoan Traditional Chinese Medicine Hospital, Shenzhen, Guangdong Province, People’s Republic of China;

3. Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of China

Funder

National Natural Science Foundation of China

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1556684

Reference8 articles.

1. Molecular prenatal diagnosis of Hb H Hydrops Fetalis caused by haemoglobin Adana and the implications to antenatal screening for α-thalassaemia

2. Phenotypic Variability in a Chinese Family with Nondeletional Hb H-Hb Quong Sze Disease

3. Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (– –SEA/) Deletion

4. An IVS1-116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

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