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Research Article

Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia

Amal Chiguera Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco;b Department of Medical Genetics, National Institute of Health, Rabat, MoroccoCorrespondence[email protected]
View further author information
,
Jaber Lyahyaia Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, MoroccoView further author information
,
Youssef El kadiria Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco;b Department of Medical Genetics, National Institute of Health, Rabat, MoroccoView further author information
,
Imane Cherkaoui Jaouada Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, MoroccoView further author information
,
Yassamine Doubajb Department of Medical Genetics, National Institute of Health, Rabat, MoroccoView further author information
&
Abdelaziz Sefiania Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco;b Department of Medical Genetics, National Institute of Health, Rabat, MoroccoView further author information
Received 10 May 2023, Accepted 22 May 2024, Published online: 04 Jun 2024

References

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  • Park J, Jeong DC, Yoo J, et al. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clin Genet. 2016;90(1):69–78.
  • Gallagher PG. Diagnosis and management of rare congenital nonimmune hemolytic disease. Hematology Am Soc Hematol Educ Program. 2015;2015(1):392–399. doi: 10.1182/asheducation-2015.1.392.
  • Bianchi P, Fermo E, Vercellati C, et al. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica. 2012;97(4):516–523. doi: 10.3324/haematol.2011.052845.
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  • Hassoun H, Vassiliadis JN, Murray J, et al. Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest. 1995;96(6):2623–2629.
  • Tole S, Dhir P, Pugi J, et al. Genotype-phenotype correlation in children with hereditary spherocytosis. Br J Haematol. 2020;191(3):486–496. doi: 10.1111/bjh.16750.
  • van Vuren A, van der Zwaag B, Huisjes R, et al. The complexity of genotype-phenotype correlations in hereditary spherocytosis: a Cohort of 95 patients: genotype-phenotype correlation in hereditary spherocytosis. Hemasphere. 2019;3(4):e276. doi: 10.1097/HS9.0000000000000276.
  • Pincez T, Guitton C, Gauthier F, et al. Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study. Blood. 2016;127(12):1616–1618. doi: 10.1182/blood-2015-11-679357.

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