Introduction
Dehydrated hereditary stomatocytosis (DHS) is one of the non-immune hemolytic anemias presenting with broad-spectrum clinical findings due to increased erythrocyte membrane cation permeability. DHS The estimated prevalence was reported at 1/8000 and 6-fold greater than prior estimates.1 Although the clinical findings of DHS vary widely, all forms of DHS have hemolysis and anemia that vary from mild to severe are present. Also, it can present with jaundice, pallor, weakness, splenomegaly and gallstones as in all hemolytic anemias. This disease is divided into two groups: either isolated erythroid phenotype (non-syndromic) or extra-hematological manifestations (syndromic). The syndromic form is examined in three subtypes. These are classified as follows: (i) Stomatin deficient cryohydrocytosis with mental retardation, seizures and hepatosplenomegaly, (ii) Phytosterolemia nonleaky stomatocytosis with macrothrombocytopenia, (iii) DHS with perinatal edema and/or pseudohyperkalemia. Nonsyndromic forms are classified as: (i) Overhydrated hereditary stomatocytosis, (ii) Cryohydrocytosis, (iii) DHS and (iv)Familial pseudohyperkalemia. Mutations in ABCG5, ABCG8, PIEZO1, SLC2A1, ABCB6, KCNN4 and RHAG genes are responsible for all subtypes of that disease.1 In recent years, studies have shown that PIEZO1 mutations are caused by both syndromic and nonsyndromic forms of DHS: Type 1a and Type 1b.1 Here, we want to present a case of hereditary dehydrated stomatocytosis diagnosed at 11 years old due to the detection of a new homozygous missense mutation (c.3364G> A (p.Glu1122Lys) in the PIEZO1 gene with a Next-Generation Sequencing (NGS) panel, who has been followed up for non-immune hemolytic anemia since the age of one.