How Are Hemoglobinopathies Diagnosed?

Diagnosis of hemoglobinopathies involves several tests and evaluations, including:

  • Complete Blood Count (CBC): To check for anemia and other abnormalities in red blood cells.
  • Hemoglobin Electrophoresis: A test that separates different types of hemoglobin to identify abnormal forms.
  • Genetic Testing: To detect specific mutations associated with hemoglobinopathies.
  • Newborn Screening: Many countries have routine newborn screening programs to detect hemoglobinopathies early in life.
  • Family History: A detailed family history can help identify the risk of inherited hemoglobin disorders.