Genotype, Phenotype, Xerocytosis
Conditions
Keywords
xerocytosis, phenotype, genotype, PIEZO1, KCNN4 mutation
Brief summary
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.
Interventions
BIOLOGICALBlood sample
blood sample for genetic analysis
Sponsors
Kremlin-Bicetre Hospital, Paris
Centre Hospitalier Universitaire, Amiens
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
10 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Any patient diagnosed with hereditary xerocytosis according to the 2021 PNDS guidelines * Covered by a social security plan * Signature of the consent form for study participation by the patient, or for minors, by the parent(s)/legal representative(s).
Exclusion criteria
* patients with other hemolysis reason
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| identification of PIEZO1 mutations | 36 months |
| identification of KCNN4 mutations | 36 months |
| correlation between the identified PIEZO1 mutations and Hemoglobin levels | 36 months |
| correlation between the identified KCNN4 mutations and Hemoglobin levels | 36 months |
| correlation between the identified PIEZO1 mutations and reticulocytes levels | 36 months |
| correlation between the identified KCNN4 mutations and reticulocytes levels | 36 months |
| correlation between the identified PIEZO1 mutations and Ferritin levels | 36 months |
| correlation between the identified KCNN4 mutations and Ferritin levels | 36 months |
| correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron | 36 months |
| correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron | 36 months |
Countries
France
Contacts
Primary ContactLoic Garçon, Pr
Outcome results
None listed