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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.

ORPHA:251359

Classification level: Disorder
  • Synonym(s):
    • HbS-beta-thalassemia syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D57.2
  • ICD-11: 3A51.3  3A51.4
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10333  10819
  • MedDRA: 10040655  10055579

Detailed information

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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.