KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia

Author:

Liu Dun1,Zhang Xinhua2,Yu Lihua1,Cai Ren3,Ma Xiaoxia1,Zheng Chengguang4,Zhou Yuqiu5,Liu Qiji6,Wei Xiaofeng1,Lin Li1,Yan Tizhen3,Huang Jiwei1,Mohandas Narla7,An Xiuli7,Xu Xiangmin1

Affiliation:

1. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China;

2. Department of Hematology, 303rd Hospital of the People's Liberation Army, Nanning, Guangxi, China;

3. Department of Birth Health and Heredity, Liuzhou Women and Children Care Hospital, Liuzhou, Guangxi, China;

4. Prenatal Diagnostic Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi, China;

5. Department of Birth Health and Heredity, Zhuhai Women and Children Care Hospital, Zhuhai, Guangdong, China;

6. Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, School of Medicine, Shandong University, Jinan, Shandong, China; and

7. Red Cell Physiology Laboratory, New York Blood Center, New York, NY

Abstract

Key Points The prevalence of KLF1 mutations is significantly higher in a thalassemia endemic region of China than in a nonendemic region. KLF1 mutations ameliorate the clinical and hematologic features of β-thalassemia.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference36 articles.

1. The molecular basis of β-thalassemia.;Thein;Cold Spring Harb Perspect Med,2013

2. Thalassaemia.;Higgs;Lancet,2012

3. The search for genetic modifiers of disease severity in the β-hemoglobinopathies.;Lettre;Cold Spring Harb Perspect Med,2012

4. Genetic association studies in β-hemoglobinopathies.;Thein,2013

5. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.;Galarneau;Nat Genet,2010

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