Analysis of α-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of β-thalassemia in Southern China

Wang, Zhipeng; Wenfang, Yu; Liu, Ying; Shang, Xuan; Zhang, Xinhua; Xiong, Fu; Xu, Xiangmin

doi:10.1016/j.bcmd.2010.04.005

Cited by 16 publications

(13 citation statements)

References 17 publications

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“…65 Research on Thalassemia patients suggested that the effect of mutations or polymorphisms in AHSP is still controversial. Previous studies suggested that the mutation on the gene is not significantly associated with the severity of the β thalassemia patient population in China 66 and Thailand. 67…”

Section: Element Factors Of Eklf Gata Gdf11 Gdf15 and Ahspmentioning

confidence: 92%

Genetic Background of β Thalassemia Modifier: Recent Update

Rujito

Sasongko

2018

J. Biomed. Transl. Res.

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Thalassemia has become major health problem among developing countries. Genetic background which contain enormous mutations and variations have lead in clinical problem differences.The genetic basis of thalassemia, beta specifically, is mutations of the gene encoding the β chain of the hemoglobin (Beta-Globin, HBB). However, today it is known that abnormalities in this gene do not necessarily determine the clinical appearance of β thalassemia patients.A set of genes has been found that can modify the primary β thalassemia disorder. Secondary modifier contains genes that have been associated with elevated levels of HbF and improvement ratio of α / β globin chain. The genes involved are HBA, HBG, BCL11A, HBS1L-MYB and other cofactor genes regulating erythropoiesis. Tertiary genetic modifier comes from other genes related to the disease severity including iron metabolism, redox activity, and clinical complications. The review aims to provide the latest updates regarding the known β Thalassemia modifier genes and some other genes involved in the changes of the clinical manifestations.

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Section: Element Factors Of Eklf Gata Gdf11 Gdf15 and Ahspmentioning

confidence: 92%

Genetic Background of β Thalassemia Modifier: Recent Update

Rujito

Sasongko

2018

J. Biomed. Transl. Res.

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“…However, some studies have shown that AHSP was not adequately associated with severity of β-thalassemia as a genetic modifier [47].…”

Section: Alpha-hb-stabilizing Proteinmentioning

confidence: 98%

Review: Beta-thalassemia and molecular chaperones

Sumera

Radhakrishnan

Baba

et al. 2015

Blood Cells, Molecules, and Diseases

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“…Ces résultats expliquent en partie la pathologie du patient et décrivent le premier cas de mutant naturel de l'AHSP conduisant à une altération de la production de l'Hb [17,43]. Parallèlement, une étude portant sur 365 sujets ␤-thalassémiques originaires du Sud de la Chine a permis de retrouver la mutation AHSP V56G ainsi qu'une nouvelle mutation faux-sens AHSP D29V mais aucune de ces deux mutations présentes à l'état hétérozygote ne semble modifier le phénotype des patients [44].…”

Section: Variants De L'ahsp Et Expression De L'hbunclassified

Rôle du chaperon moléculaire de l’alpha-hémoglobine dans la formation de l’hémoglobine et l’expression clinique de certaines hémoglobinopathies

Vasseur¹,

Baudin‐Creuza²

2015

Transfusion Clinique et Biologique

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Analysis of α-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of β-thalassemia in Southern China

Cited by 16 publications

References 17 publications

Genetic Background of β Thalassemia Modifier: Recent Update

Genetic Background of β Thalassemia Modifier: Recent Update

Review: Beta-thalassemia and molecular chaperones

Rôle du chaperon moléculaire de l’alpha-hémoglobine dans la formation de l’hémoglobine et l’expression clinique de certaines hémoglobinopathies

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