Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region

Author:

Chen Xingyuan,Liao Lin,Wu Yangyang,Xiang Liqun,Qin Yumei,Luo Meiling,Lin Faquan

Funder

National Natural Science Foundation of China

Guangxi Zhuang Region Health Department

Publisher

Springer Science and Business Media LLC

Subject

Hematology,Histology,Pathology and Forensic Medicine

Reference28 articles.

1. Perrotta S, Gallagher PG, Mohandas N (2008) Hereditary spherocytosis. Lancet 372(9647):1411–1426. https://doi.org/10.1016/S0140-6736(08)61588-3

2. Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H, Working Study Group on Red Cells and Iron of the EHA (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 102(8):1304–1283. https://doi.org/10.3324/haematol.2016.161166

3. Rizo-delaTorre LDC, Herrera-Tirado IM, Hernández-Peña R, Ibarra-Cortés B, Perea-Díaz FJ (2022) Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia. Ann Hum Genet 86(2):87–93. https://doi.org/10.1111/ahg.12451

4. Chen M, Ye YP, Liao L, Deng XL, Qiu YL, Lin FQ (2020) Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene. Hematology 25(1):438–445. https://doi.org/10.1080/16078454.2020.1846874

5. Guitton C, Garçon L, Cynober T, Gauthier F, Tchernia G, Delaunay J, Leblanc T, Thuret I, Bader-Meunier B (2008) Sphérocytose héréditaire: recommandations pour le diagnostic et la prise en charge chez l’enfant [Hereditary spherocytosis: guidelines for the diagnosis and management in children]. Arch Pediatr 15(9):1464–73. French. https://doi.org/10.1016/j.arcped.2008.04.023.

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