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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 system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a "splenic sequestration." The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections. Acute chest syndrome is a major cause of mortality in SCD. 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 may be relatively protected from vaso-occlusive pain.

Genes See tests for all associated and related genes

  • Also known as: CD113t-C, ECYT6, beta-globin, HBB
    Summary: hemoglobin subunit beta

Clinical features


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Practice guidelines

  • EMQN, 2014
    EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
  • AHA/ASA, 2014
    Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
  • Yawn et al., 2014
    Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members.
  • 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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