Clinical and Genetic Analysis of Dehydrated Hereditary Stomatocytosis: A Case Report

Dehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant hemolytic anemia caused by abnormal erythrocyte ion permeability, most often due to PIEZO1 mutations. We report the case of a 15-year-old male with elevated indirect bilirubin and mild anemia. Peripheral smear showed target cells, and whole-exome sequencing identified a heterozygous PIEZO1 mutation (c.7367G>A, p.R2488Q), confirming DHS. Family testing revealed paternal inheritance. The patient remains asymptomatic and is managed conservatively with regular follow-up. This case highlights the importance of genetic testing for early diagnosis and counseling in rare hemolytic disorders.