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Sickle cell-hemoglobin D disease syndrome
Disease definition
A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis.
ORPHA:251370
Classification level: Disorder- Synonym(s):
- HbSD disease
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: D57.2
- OMIM: -
- UMLS: C0272084
- MeSH: -
- GARD: 12458
- MedDRA: 10056724
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.