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Doctor insights on: Thalassemia

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Dr. Michael Engel
270 doctors shared insights

Thalassemia (Overview)

Thalassemia is sever anemia,it is inherited from parents.


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What is thalassemia?

What is thalassemia?

Thalassemia: Thalassemia is a deficiency in the production of one of the globin chains (alpha or beta) that make up hemoglobin. Normally synthesis of these is balanced. When imbalanced, one globin accumulates relative to the other forming inclusions that are damaging to the red cells that contain them. There are many thal variants that manifest a wide severity of symptoms from none to transfusion dependence. ...Read more

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Dr. Michael Engel
270 doctors shared insights

Thalassemia (Overview)

Thalassemia is sever anemia,it is inherited from parents.


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What are the signs and symptoms of thalassemia?

What are the signs and symptoms of thalassemia?

None to severe/fatal: Alpha thal: 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 (severe) is usually fatal before birth. Beta thal: beta trait has mild anemia; beta intermedia may have weakness, pallor, less growth, and need some transfusions; beta major (cooley's, severe) needs lifelong transfusions. ...Read more

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What i need to do once i had diagnose "beta thalassemia" by doctor? What treatment I should do? Please help me doctor..

Nothing: If you were just diagnosed with beta thalassemia at age 26, you must have the "minor" form, beta-thalassemia trait. You most likely have mild microcytic anemia that has been present all of your life. The only issue is that if your partner has beta-thalassemia trait, then you could have a child with severe transfusion-dependent beta-thalassemia major. ...Read more

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What is the diagnostic test for alpha thalassemia?

Blood tests: Alpha 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. ...Read more

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What is the test for thalassemia?

What is the test for thalassemia?

Testing: Patients are anemic (low hemoglobin), with small cells (microcytosis). A hemoglobin electrophoresis confirms the diagnosis. These tests are done after a thorough history and physical exam including family history. There are other lab tests that may support the diagnosis as well. ...Read more

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TTC&RE done several blood tests.I am negative but inconclusive to alpha thalassemia.How?DH tested for Hgb electrophoresis.Why?Is it serious?what next?

TTC&RE done several blood tests.I am negative but inconclusive to alpha thalassemia.How?DH tested for Hgb electrophoresis.Why?Is it serious?what next?

Genetics consult: If you are trying to have a baby or will do so in the future, tis important to know what the chances are for the baby to have the disease. If you are both carriers, then there is a higher risk for the baby to have the disease. You said he was tested but never said if he is positive for carrier state or does he have it? Talk to a geneticist, there's always one associated with children's hosp ...Read more

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What type of mutation causes thalassemia minor?

What type of mutation causes thalassemia minor?

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. ...Read more

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What does thalassemia mean exactly?

Start with this link: There are several types. This is a good starting resource. http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm ...Read more