Study of Hereditary Xerocytosis Phenotype and Genetic Mutations Examining Effects of PIEZO1 and KCNN4 Mutations on Blood and Iron Levels

What this Trial Is About

Hereditary xerocytosis is a genetic red blood cell disorder where potassium leaks out of cells, causing dehydration and ongoing breakdown of red blood cells. This condition is mostly caused by mutations in the PIEZO1 gene in about 90% of cases, with the rest linked to mutations in the GARDOS channel gene. The study aims to understand how these genetic changes relate to the features of the disease, including blood and iron levels. Participants will provide blood samples for genetic analysis to identify mutations in PIEZO1 and KCNN4 genes. The study does not involve treatment but focuses on collecting data over 36 months to examine how these genetic mutations correlate with various blood parameters and MRI measurements of iron in the liver. During the study, participants will undergo blood tests and MRI scans to measure hemoglobin, reticulocytes, ferritin, and liver iron levels. Researchers will monitor these outcomes over 36 months to better characterize the disease. The study involves no masking or placebo and is open to patients diagnosed with hereditary xerocytosis who meet the eligibility criteria.

The Study of the Phenotype of Hereditary Xerocytosis