Pediatrician Questions Pediatrician

Is thalassemia genetic?

My daughter was diagnosed with thalassemia. Is it genetic?

2 Answers

Thalassemia is a genetic hemoglobinopathy. Abnormal hemoglobin formation is passed down from one or both parents, as their ancestors lived in an area with lots of malaria--the Mediterranean, SE Asia. If malaria is common in an area, people with thalassemia or sickle cell anemia do better than those w/o it, as their red cells are less densely packed with hemoglobin molecules than normal people's cells. With Thalassemia, globin chains are not made correctly, so there is less hemoglobin, to carry oxygen, but with less densely packed cells, the red cells are less likely to burst from the malaria bacteria multiplying inside them. That's why they have a survival advantage in areas with lots of malaria. Thal minor or intermedia people do pretty well. Thal major have more severe anemia, absorb too much iron, can have liver and heart problems from iron overload, and are very anemic. Thalassemia is one of the diseases that has persisted because people with it do better than normal in malaria-infested areas.
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