A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin . The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae.

Clinical presentation

Clinical presentation varies, is related to hypoxia, and characteristically includes the following:

  • claudication
  • tachycardia
  • dyspnea
  • vertigo
  • angina



Types of hemoglobinopathies include the following, with the predominant type of abnormal hemoglobin in parentheses following the disorder.

  • sickle cell disease (HbS)
  • sickle cell trait (HbAS)
  • sickle cell-hemoglobin C (HbSC)
  • sickle cell-thalassemia (HbS and HbA)
  • thalassemia
    • alpha thalassemia (deficient alpha-globin chain synthesis)
    • beta thalassemia (deficient beta-globin chain synthesis)
      • thalassemia major (homozygous) - Cooley anemia
      • thalassemia minor (heterozygous)
  • hemoglobin C disease (HbCC)
  • hemoglobin C trait (HbAC)

Radiographic features

The radiographic features of hemoglobinopathies vary and some are more specific for specific hemoglobinopathies (e.g. splenic sequestration in sickle cell). Generally, many common radiographic features are related to extramedullary hematopoiesis and infarctions as follows: