Expanding the genetic spectrum of hereditary spherocytosis: novel mutations and phenotypic heterogeneity from a 55-patient cohort.

Abstract excerpt

To characterize the clinical and genetic profiles of patients with hereditary spherocytosis (HS) and report novel mutations. This retrospective study included 55 patients (25 males, 30 females; median age 9 years) with HS admitted between 2016 and 2023. Clinical and laboratory data were analyzed. Targeted next-generation sequencing was performed to detect pathogenic mutations. Comparisons were made using...

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