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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
The patient is prospectively included. The referring hematologist will inform the patient about participation in the cohort, give him the information note and obtain his non-objection agreement to the use of his data for research purposes.
The data will be collected from the medical file of each patient as part of his usual annual follow-up.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Determine the proportion of recurrent genetic mutations and private mutations within our cohort | Number of recurrent genetic mutations and private mutations within our cohort | Baseline |
| Establish phenotypes-genotypes relationships |
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Inclusion Criteria:
Exclusion Criteria:
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all patients for whom the diagnosis of hereditary stomatocytosis has been made or confirmed by ektacytometry
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Corinne GUITTON, MD,PhD | Contact | 01 45 21 32 47 | corinne.guitton@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Corinne GUITTON | APHP | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| AP-HP, BicĂȘtre Hospital, Pediatrics - Hematology - Reference center for Sickle cell anemia, Thalassemia and other constitutional diseases of the red blood cell | Recruiting | Le Kremlin-BicĂȘtre | 94275 | France |
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Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype
| through study completion, an average of 15years |
| Describe the appearance of complications | Rate of occurrence of complications over time | through study completion, an average of 15years |
| Describe possible new phenotypic presentations of hereditary stomatocytosis | Description of the phenotypic presentations of hereditary stomatocytosis | through study completion, an average of 15years |
|