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Alpha Thalassemia (cont.)

Alpha Thalassemias

Four genes (two from each parent) are needed to make enough alpha globin protein chains. If one or more of the genes is missing, you will have alpha thalassemia trait or disease. This means that you don't make enough alpha globin protein.

  • If you have only one missing gene, you're a silent carrier and won't have any signs of illness.

  • If you have two missing genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia.

  • If you have three missing genes, you likely will have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia.

Very rarely, a baby will have all four genes missing. This condition is called alpha thalassemia major or hydrops fetalis. Babies with hydrops fetalis usually die before or shortly after birth.

Inheritance Pattern for Alpha Thalassemia

Inheritance Pattern for Alpha Thalassemia

The diagram shows one example of how alpha thalassemia is inherited. The alpha globin genes are located on chromosome 16. A child inherits four alpha globin genes - two from each parent. In this example, the father is missing two alpha globin genes and the mother is missing one alpha globin gene.

Therefore, each child has a 25 percent chance of inheriting two missing genes and two normal genes (thalassemia trait), three missing genes and one normal gene (hemoglobin H disease), four normal genes (no anemia), or one missing gene and three normal genes (silent carrier).



Next: Beta thalassemias »

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