Orphanet: Sickle cell beta thalassemia disease syndrome

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Sickle cell-beta-thalassemia disease syndrome

Disease definition

A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.


Classification level: Disorder
  • Synonym(s):
    • HbS-beta-thalassemia syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D57.2
  • OMIM: -
  • UMLS: C0221019  C0857812
  • MeSH: -
  • GARD: 10333  10819
  • MedDRA: 10040655  10055579

Detailed information

Article for general public


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