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Defining Alpha Thalassemia

Alpha thalassemia, in particular, demonstrates problems with alpha globin chain production. Physiologically, anywhere from one to four of the gene loci that code for the alpha chain may be deleted from chromosome 16. The greater the number of loci deleted or inactivated, the greater the severity of the anemia which develops.

Many different mutations exist that result from partial deletions of alpha genes. This unit of study deals only with the forms of alpha thalassemia that have entire gene loci deletions.