Hemoglobinopathies

Last revised by Daniel J Bell on 31 Oct 2019

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, and other sequelae.

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.

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:

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