Novel mutations in SPTA 1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia-Reference-Cited by-同舟云学术

Novel mutations in SPTA 1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia

Published:2018-09-10 Issue:3 Volume:185 Page:578-582
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Ittiwut Chupong¹²,Natesirinilkul Rungrote³,Tongprasert Fuanglada⁴,Sathitsamitphong Lalita³,Choed‐amphai Chane³,Fanhchaksai Kanda³,Charoenkwan Pimlak³^ORCID,Suphapeetiporn Kanya¹²,Shotelersuk Vorasuk¹²

Affiliation:

1. Center of Excellence for Medical Genomics Department of Paediatrics Faculty of Medicine Chulalongkorn University Bangkok Thailand

2. Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital The Thai Red Cross Society Bangkok Thailand

3. Department of Paediatrics Faculty of Medicine Chiang Mai University Chiang Mai Thailand

4. Department of Obstetrics and Gynaecology Faculty of Medicine Chiang Mai University Chiang Mai Thailand

Funder

Thailand Research Fund

Newton Fund

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.15559

Reference7 articles.

1. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

2. Hereditary elliptocytosis: spectrin and protein 4.1R

3. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

4. Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.

5. Ethnic distribution of allele aLELY, a low-expression allele of red-cell spectrin a-gene

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1. Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c;Frontiers in Medicine;2023-12-12

2. Homozygous SPTA1‐associated hereditary pyropoikilocytosis presenting as hydrops fetalis;Transfusion;2023-11-29

3. Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry;Annals of Hematology;2023-11-23

4. One‐step amplification refractory mutation system‐PCR/high‐resolution melting curve assay for carrier detection of red blood cell membranopathy caused by common SPTB mutations;International Journal of Laboratory Hematology;2023-10-30

5. A Novel <i>SPTA1</i> Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome;Internal Medicine;2023-01-01