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A 39-year-old member asked:

What type of mutation causes thalassemia?

1 doctor answer2 doctors weighed in
Dr. Lois A Freisleben-Cook
Pediatrics 36 years experience
Hemoglobin: formation is affected in thalassemia. Mutation in one or both of the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia.

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A 46-year-old member asked:

What type of mutation causes thalassemia minor?

1 doctor answer3 doctors weighed in
Dr. James Ball
Pediatric Hematology and Oncology 20 years experience
Many: Many mutations in beta-thal genes will cause a decreased production, rather than an absence of production. Inheritance of one f these genes will cause a thalassemia minor. In alpha-thalassemia, the inheritance of two mutations (out of four genes) can provide mild or no symptoms that are typical of thalassemia minor.

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Last updated Apr 23, 2018

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