Hemoglobinopathy

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Hemoglobinopathy

Hemoglobinopathy (pronunciation: hee-muh-gloh-buh-NOP-uh-thee) is a type of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are often inherited and include conditions such as sickle cell disease and thalassemia.

Etymology

The term "hemoglobinopathy" is derived from the Greek words "haima" meaning blood, "globin" referring to the protein molecule, and "pathos" meaning suffering or disease.

Related Terms

  • Hemoglobin: The protein molecule in red blood cells that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues back to the lungs.
  • Sickle cell disease: A group of disorders that cause red blood cells to become misshapen and break down.
  • Thalassemia: An inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal.
  • Beta thalassemia: A blood disorder that reduces the production of hemoglobin.
  • Alpha thalassemia: A blood disorder where the body has a problem producing alpha globin, a component of hemoglobin.
  • Hemoglobin C disease: A blood disorder causing mild anemia, fatigue and an enlarged spleen.
  • Hemoglobin S: An abnormal type of hemoglobin associated with sickle cell anemia.
  • Hemoglobin A: The normal type of hemoglobin found in adults.
  • Hemoglobin F: The main type of hemoglobin in fetuses and newborns.

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