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.