Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: First South Asian study

Abstract excerpt

Defects in various erythrocyte membrane proteins genes (ankyrin, band-3, β- and α-spectrin and protein 4·2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of HS, together with co-inherited genetic modifiers, results in marked phenotypic variability among patients. We studied the molecular spectrum and genotype-phenotype correlations in 73 families (with 113 patients) with HS. Deleterious...

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