A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, <i>HBB</i>:c.10_11delinsAA] causing elevated Hb A<sub>2</sub> level-Reference-Cited by-同舟云学术

A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10_11delinsAA] causing elevated Hb A₂ level

Published:2022-07-06 Issue:1 Volume:27 Page:772-777
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Liang Liang¹,Ning Shuting²,Lu Xiaocai³,Li Yingwei²,Tian Mao¹,Qin Ting¹,Li Youqiong¹^ORCID

Affiliation:

1. Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of China

2. Department of Obstetrics, Jiangbin Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of China

3. Department of medical laboratory, Jiangbin Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of China

Funder

the Health Department Research Fund of Guangxi

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/16078454.2022.2095692

Reference13 articles.

1. Molecular Diagnosis of Thalassemias and Hemoglobinopathies

2. Advances in detection of hemoglobinopathies

3. Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene

4. Identification of a new hemoglobin variant Hb Liuzhou [HBA1:C.182A→G] by MALDI-TOF mass spectrometry during HbA1c measurement

5. Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening

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