Haemoglobinopathies

Dr Pamela Mayhew et al.

A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1.  The result is reduced oxygen carrying capacity of the blood to the tissues.

Types of hemoglobinopathies include the following:

  • Sickle cell disease (Hb S)
  • Sickle cell trait (HB AS)
  • Sickle cell-hemoglobin C
  • Sickle cell-thalassemia (Hb S and Hb A)
  • Thalassemia
    • Alpha thalassemia (deficient Alpha-globin chain synthesis)
    • Beta thalassemia (deficient Beta-globin chain synthesis)
      • Thalassemia major (homozygous) - Cooley's aenemia
      • Thalassemia minor (heretrozygous)

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

  • claudication
  • tachycardia
  • dyspnea
  • vertigo
  • angina
  • vascular occlusion leading to infarcts
  • necrosis
  • pathological fracture
  • osteomyelitis (100x more likely in sickle cell disease patients) 2

The radiographic features of hemoglobinopathies vary and are generally related to extramedullary hematopoiesis and infarctions as follows:

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Article Information

rID: 50963
System: Haematology
Section: Syndromes
Synonyms or Alternate Spellings:
  • hemoglobinopathies
  • hemoglobinopathy

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