The Study of the Phenotype of Hereditary Xerocytosis

Centre Hospitalier Universitaire, Amiens20 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Xerocytosis Phenotype Genotype

Interventions

Eligibility

Sex: ALLMin age: 10 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

identification of PIEZO1 mutations

Time frame: 36 months

identification of KCNN4 mutations

Time frame: 36 months

correlation between the identified PIEZO1 mutations and Hemoglobin levels

Time frame: 36 months

correlation between the identified KCNN4 mutations and Hemoglobin levels

Time frame: 36 months

correlation between the identified PIEZO1 mutations and reticulocytes levels

Time frame: 36 months

correlation between the identified KCNN4 mutations and reticulocytes levels

Time frame: 36 months

correlation between the identified PIEZO1 mutations and Ferritin levels

Time frame: 36 months

correlation between the identified KCNN4 mutations and Ferritin levels

Time frame: 36 months

correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron

Time frame: 36 months

correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron

Time frame: 36 months

The Study of the Phenotype of Hereditary Xerocytosis

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts