Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene-Reference-Cited by-同舟云学术

Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene

Published:2020-01-01 Issue:1 Volume:25 Page:438-445
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Chen Min¹,Ye Yu-Ping¹,Liao Lin¹,Deng Xue-Lian¹,Qiu Yu-Ling²,Lin Fa-Quan¹^ORCID

Affiliation:

1. Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, People’s Republic of China

2. Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning, People’s Republic of China

Funder

National Natural Science Foundation of China

Publisher

Informa UK Limited

Subject

Hematology,Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/16078454.2020.1846874

Reference22 articles.

1. Thalassaemia

2. Global epidemiology of haemoglobin disorders and derived service indicators

3. Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

4. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

5. Inherited hemolytic anemia: a possessive beginner’s guide

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1. Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis;Orphanet Journal of Rare Diseases;2024-07-24

2. The coincidence of beta‐thalassemia and hereditary spherocytosis: A case report and literature review;Clinical Case Reports;2024-06

3. Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis;Frontiers in Genetics;2024-04-09

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5. Detecting rare thalassemia in children with anemia using third-generation sequencing;Hematology;2023-08-07