Hereditary xerocytosis is a dominant red blood cell membrane disorder characterized by an increased leakage of potassium from the interior to the exterior of the red blood cell membrane, leading to water loss, red cell dehydration, and chronic hemolysis. In 90% of cases, it is associated with heterozygous gain-of-function mutations in PIEZO1, a gene that encodes a mechanotransducer responsible for converting mechanical stimuli into biological signals. The remaining 10% of cases are linked to mutations in the GARDOS channel gene.
Age range
10 Years
Sex
ALL
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identification of PIEZO1 mutations
Timeframe: 36 months
identification of KCNN4 mutations
Timeframe: 36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels
Timeframe: 36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels
Timeframe: 36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels
Timeframe: 36 months
correlation between the identified KCNN4 mutations and reticulocytes levels
Timeframe: 36 months
correlation between the identified PIEZO1 mutations and Ferritin levels
Timeframe: 36 months
correlation between the identified KCNN4 mutations and Ferritin levels
Timeframe: 36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron
Timeframe: 36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron
Timeframe: 36 months