A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.

ABSTRACT:

Background

Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in cellular cation content. The most frequent expression of the pathology is hemolytic well-compensated anemia with high reticulocyte count, a tendency to macrocytosis, increased mean corpuscular hemoglobin concentration (MCHC) and mild jaundice. We here describe a new mutation of PIEZO1 gene, the most frequent mutated gene in DHS, in a family affected by hereditary hemolytic anemia.

Case presentation

We describe the case of a 12-years-old girl with well-compensated chronic hemolysis, increased MCHC and a father who

SUBMITTER: Zama D 

PROVIDER: S-EPMC7379360 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature