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Article

Genotype-phenotype correlation in children with hereditary spherocytosis.

British journal of haematology - 1 Nov 2020

Tole Soumitra, Dhir Priya, Pugi Jakob, Drury Luke J, Butchart Sheila, Fantauzzi Michelle, Langer Jacob C, Baker Jillian M, Blanchette Victor S, Kirby-Allen Melanie, Carcao Manuel D

Abstract excerpt

Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. We performed a retrospective study of 166 children with HS and describe the clinical phenotype according to the genotype. In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 were found in 49%,...

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PMID: 32436265
DOI: 10.1111/bjh.16750

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