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Sickle cell-hemoglobin d disease syndrome
rareA rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, 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. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
- Identifiers
- MONDO:0016670 Orphanet:251370
- Also known as
- HbSD disease · sickle cell - haemoglobin D disease · sickle cell - hemoglobin D disease
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