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A 39-year-old member asked:

what type of mutation causes thalassemia?

1 doctor answer2 doctors weighed in
Dr. Lois Freisleben-Cook
Pediatrics 41 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 21-year-old member asked:

What is the test for thalassemia?

4 doctor answers12 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Blood tests: Thalassemia is diagnosed by blood tests: routine blood counts, hemoglobin electrophoresis to find out the types of hemoglobin one has in one's blood, and dna analysis to try to see if certain mutations are present.
A 31-year-old member asked:

What are the common symptoms of alpha thalassemia?

2 doctor answers3 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
None to severe/fatal: Alpha thalassemia signs and symptoms: silent carriers have no signs/symptoms; Alpha trait has mild anemia; HGB h (moderate) may have weakness, pallor, less growth, and need some transfusions; bart's disease (severe) is usually fatal before birth.
A 33-year-old member asked:

Who is at risk of getting alpha thalassemia?

2 doctor answers6 doctors weighed in
Dr. Emily Lu
Dr. Emily Luanswered
Family Medicine 7 years experience
Family history: Thalassemia is a genetic disease of the hemoglobin molecule and so only occurs through inheritance. A mutation in this gene is especially prevalent in persons of african, asian, middle eastern or mediterranean descent. Individuals with only one mutation of the gene will be asymptomatic, so genetic screening is necessary to precisely determine risk.
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A 25-year-old member asked:

Do environmental factors play a role in the progression of beta-thalassemia?

1 doctor answer3 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
No, but. . .: Environmental factors generally do not play a role in beta thalassemia. However, a patient can be worsened by conditions that typically worsen anemia, such as dietary iron deficiency, other nutrient deficiencies (such as folate (folic acid) or vitamin b12), lead poisoning, or infections with viruses that can cause anemia (such as parvovirus b19). Vacationing at high altitudes may cause symptoms of low oxygen.
A 44-year-old member asked:

Could hemophilia occur due to a mutation?

2 doctor answers7 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Yes, a gene mutation: Hemophilia "A" is a hereditary bleeding disorder where there is a deficiency in clotting factor VIII (factor VIII is needed for blood clotting). It is inherited on the X-chromosome (sex-linked). Men only have 1 "X", so if their "X" is mutated, they will have the disease. Women have 2 "X's", so they can have 1 mutated "X" and 1 normal "X", and be a carrier of the disease, with mild or no symptoms.

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Last updated Apr 23, 2018

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