Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype-Reference-Cited by-同舟云学术

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype

Published:2024-05-24 Issue:1 Volume:299 Page:
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Liang Guanxia,Lin Zezhang,Zhang Yang,Zhang Qianqian,Zhu Dina,Liang Xiongda,Xie Hongting,Wei Xiaofeng,Shang Xuan^ORCID

Funder

Basic and Applied Basic Research Foundation of Guangdong Province

National Natural Science Foundation of China

open foundation from Guangxi Key Laboratory of Precision Medicine for Genetic Diseases of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region

Southern Medical University Innovation Training Program for Undergraduate Students

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00438-024-02150-5.pdf

Reference20 articles.

1. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ (2012) Guidelines for the diagnosis and management of hereditary spherocytosis–2011 update. Br J Haematol 156:37–49. https://doi.org/10.1111/j.1365-2141.2011.08921.x

2. Chen Z, Su D, Ai L, Jiang X, Wu C, Xu Q, Wang X, Fan Z (2014) UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis. Gene 552:32–38. https://doi.org/10.1016/j.gene.2014.09.009

3. del Giudice EM, Perrotta S, Nobili B, Specchia C, d’Urzo G, Iolascon A (1999) Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 94:2259–2262

4. Fichna JP, Maruszak A, Żekanowski C (2018) Myofibrillar myopathy in the genomic context. J Appl Genet 59:431–439. https://doi.org/10.1007/s13353-018-0463-4

5. Hamid M, Ershadi Oskouei S, Shariati G, Babaei E, Galehdari H, Saberi A, Sedaghat A (2018) Mutation screening of the Kruppel-like factor 1 gene in individuals with increased fetal hemoglobin referred for Hemoglobinopathy Investigation in South of Iran. J Pediatr Hematol Oncol 40:192–195. https://doi.org/10.1097/MPH.0000000000001093