Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect

Area of Science:

• Genetics
• Hematology
• Physiology

Background:

• Dehydrated hereditary stomatocytosis (DHS), or hereditary xerocytosis, is a rare autosomal dominant disorder.
• It is characterized by anemia, hemolysis, erythrocyte dehydration, and iron overload.
• Gain-of-function variants in the PIEZO1 gene are the known cause of DHS.

Observation:

• The PIEZO1 gene encodes a mechanosensitive ion channel protein.
• Diagnosis of DHS is often delayed due to overlapping symptoms with other hemolytic anemias.
• The pleiotropic effects of PIEZO1 variants contribute to diagnostic complexity.

Findings:

• This study details the case of a Greek patient experiencing compensated hemolysis since birth.
• The patient received a conclusive DHS diagnosis at 70 years of age after extensive investigations.
• The diagnostic journey spanned seven decades, emphasizing the challenges in identifying DHS.

Implications:

• This case underscores the critical need for heightened awareness of PIEZO1-associated disorders.
• It highlights the importance of comprehensive genetic testing in cases of unexplained anemia and hemolysis.
• Earlier diagnosis of DHS can lead to timely management and improved patient outcomes.