Hb H disease associated with compound heterozygosity for -- <sup>SEA</sup> deletion and a novel alpha globin chain variant ( <i>HBA2</i> :c.175C>A) on the distal histidine in a Chinese family-Reference-Cited by-同舟云学术

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Hb H disease associated with compound heterozygosity for -- ^SEA deletion and a novel alpha globin chain variant ( HBA2 :c.175C>A) on the distal histidine in a Chinese family

Published:2024-04-16 Issue:1 Volume:29 Page:
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Sun Manna¹²,Lou Jiwu³⁴⁵,Xinghe Wang¹²,Zhao Ying³⁴⁵,Dai Yunshi³⁴⁵,Liu Shuangai³⁴⁵,Yan Tizhen³⁴⁵

Affiliation:

1. Department of Obstetrics & Gynecolog, Dongguan Maternal and Children Hospital, Dongguan, People’s Republic of China

2. Dongguan Key Laboratory of Maternal and Fetal Medicine, Dongguan, People’s Republic of China

3. Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People’s Republic of China

4. Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control, Dongguan, People’s Republic of China

5. Dongguan Key Laboratory of Genetic Disorder Prenatal Testing Precision medicine, Dongguan, People’s Republic of China

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/16078454.2024.2339559

Reference16 articles.

1. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

2. The hemoglobinopathies, molecular disease mechanisms and diagnostics

3. Hemoglobin Variants: Biochemical Properties and Clinical Correlates

4. The unstable haemoglobins

5. Steinberg MH. Disorders of hemoglobin: genetics, pathophysiology, and clinical management. 2nd Cambridge: Cambridge Univ Pr; 2009. p. 826.

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