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Hb SS disease

Synonyms
HbS disease; Hemoglobin S Disease; Hemoglobin SS; Sickle cell anemia; Sickle cell disease; Sickling disorder due to hemoglobin S
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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, primarily encapsulated organisms. Acute chest syndrome (ACS) 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 as well as activating pathways that contribute to the pathophysiology directly. Individuals with the highest rates of hemolysis are at higher risk for pulmonary artery hypertension, priapism, and leg ulcers and may be relatively protected from vaso-occlusive pain.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
MA Bender
Katie Carlberg
view full author information

Available tests

83 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (83 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT Sheet, 2023
    American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, FS: Hemoglobin S Screening Result, 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, FAS: Sickle Cell Trait Screening Result, 2023
  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Carrier Screening ACT Sheet, Sickle Cell Carrier/Trait, 2023
  • ACMG ACT, 2012
    American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet, [FAS] Sickle Cell Carrier (HbAS)
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Hb S Screening, 2009

Molecular resources

Consumer resources

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