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Sickle cell-hemoglobin E disease syndrome
Disease definition
A rare, genetic hemoglobinopathy usually characterized by mild hemolysis without vaso-occlusive complications or abnormality of red blood cell morphology. However, more severe manifestations have also been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis.
ORPHA:251375
Classification level: Disorder- Synonym(s):
- HbSE disease
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: D57.2
- OMIM: -
- UMLS: C0272085
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Deutsch (2014, pdf)
- English (2014, pdf)
- Español (2014, pdf)
- Clinical practice guidelines
- Deutsch (2014)
- Français (2010, pdf)
- Guidance for genetic testing
- Français (2019, pdf)
- Clinical genetics review
- English (2017)
- Disability factsheet
- Français (2019, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.