Orphanet: Sickle cell hemoglobin D disease syndrome
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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

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