Hereditary stomatocytosis is a heterogeneous group of rare constitutional diseases of dominant transmission in the vast majority of cases. The data concerning their clinical and biological presentation, and their evolution are few, and come from about thirty clinical cases. The constitution of an exhaustive French cohort of hereditary stomatocytosis will improve the establishment of the diagnosis and the management of patients
Any patient with a diagnosis of stomatocytosis without age limit
Patient affiliated or beneficiary of french Social Security
No objection from the patient or legal representative
Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics
Patient under guardianship, with curators or legal protection
all patients for whom the diagnosis of hereditary stomatocytosis has been made or confirmed by ektacytometry
Cohort
Other
Not listed
Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis
Descriptive analysis of clinical and biological data for the diagnosis of stomatocytosis
Determine the proportion of recurrent genetic mutations and private mutations within our cohort
Number of recurrent genetic mutations and private mutations within our cohort
Establish phenotypes-genotypes relationships
Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype
Describe the appearance of complications
Rate of occurrence of complications over time
Describe possible new phenotypic presentations of hereditary stomatocytosis
Description of the phenotypic presentations of hereditary stomatocytosis
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