A 39-year-old member asked:
What type of mutation causes thalassemia?
1 doctor answer • 2 doctors weighed in

Dr. Lois A Freisleben-Cookanswered
Pediatrics 37 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.
Created for people with ongoing healthcare needs but benefits everyone.
3.4k viewsReviewed >2 years ago
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A 46-year-old member asked:
What type of mutation causes thalassemia minor?
1 doctor answer • 3 doctors weighed in

Dr. James Ballanswered
Pediatric Hematology and Oncology 21 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.
Created for people with ongoing healthcare needs but benefits everyone.
5.7k viewsReviewed >2 years ago
Last updated Apr 23, 2018
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