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Disease characteristics

Excerpted from the GeneReview: Sickle Cell Disease
Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ in the body, including the bones, lungs, liver, kidneys, brain, eyes, and joints. Dactylitis (pain and/or swelling of the hands or feet) in infants and young children is often the earliest manifestation of sickle cell disease. In children the spleen can become engorged with blood cells in a “splenic sequestration crisis.” The spleen is also particularly subject to infarction and the majority of individuals with SCD are functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation. Individuals with the highest rates of hemolysis are predisposed to pulmonary artery hypertension, priapism, and leg ulcers but are relatively protected from vaso-occlusive pain.

Associated genes

Clinical features

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  • Cardiomegaly
  • Hematuria
  • Splenomegaly
  • Retinopathy
  • Jaundice
  • Cholelithiasis
  • Hemolytic anemia
  • Hepatomegaly
  • Increased red cell sickling tendency
  • Priapism
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Go to complete MedGen record for Hb SS disease

Clinical resources

Practice guidelines

  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2010
  • USPSTF, 2009
    Screening for sickle cell disease in newborns.
  • ACMG Algorithm, 2009
    American College of Medical Genetics Algorithm, Hb S Screening, 2009
  • ACMG, 2006
    Executive Summary
  • ACOG, 2007
    ACOG technical bulletin. Hemoglobinopathies in pregnancy. Number 220--February 1996 (replaces no. 185, October 1993). Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists.

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