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Doctor insights on: Thalassemia

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Dr. Michael Engel
271 Doctors shared insights

Thalassemia (Overview)

An inherited condition characterized by severe anemia


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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.

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Dr. Michael Engel
271 Doctors shared insights

Thalassemia (Overview)

An inherited condition characterized by severe anemia


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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.

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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.

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What is the diagnostic test for alpha thalassemia?

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.

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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.

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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

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Is thalassemia have something should and should not do or eat? I am 24 years old and just know that I have thalassemia

No: No food restrictions for thallassemia (a congenital condition causing hemolytic anemia not responsive to iron and folate).

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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.

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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

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Is thalassemia treatable?

By blood transfusion: In thalassemia patients who are very anemic, and have symptoms from their anemia, periodic transfusions is the usual treatment. If they have had many transfusions, their bodies will get iron overload from the past transfusions (chelation therapy to remove iron may be needed). The cure for thalassemia major is through bone marrow transplantation.

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My CBC exame show MCV low 77.3 and MCH low 22.5 what is the causes and is that mean iam treat thalassemia. Hg electrophoresis all normal afsa2?

My CBC exame show MCV low 77.3 and MCH low 22.5 what is the causes and is that mean iam treat thalassemia. Hg electrophoresis all normal afsa2?

CBC show MCV low 77.3: The response to iron fortification & the low ferritin suggest that this is more likely anemic patient with multiple myeloma undergoing chemotherapy with lenalidomide who had multiple serum samples drawn before and after chemotherapy treatment Increased HbA 2: Beta-thalassemia minor While in vitro hemolysis is a preanalytical interferent, in vivo hemolysis is a pathologic process requiring further investigation. Present a case of an anemic patient with multi

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What are possible treatment for thalassemia minor?

No treatment: No specific treatment for thal minor--may take folic acid, but this will not affect the thal minor which is genetic. Your blood counts should be explained to you by your doctor. Please ask. If your spouse has thal minor, you could produce a child with thal major, a serious problem.

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What are the causes and treatments for thalassemia?

What are the causes and treatments for thalassemia?

Genetics: Thalassemia is an inherited disorder of hemoglobin synthesis. There is no known cure, treatment involves replacing blood as necessary and certain medications. The carrier state requires no treatment. See http://www. Nhlbi. Nih. Gov/health/health-topics/topics/thalassemia/ for more detailed information.

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Is there a cure for thalassemia?

Bone marrow trnsplnt: The cure for thalassemia major is through bone marrow transplantation, either from umbilical cord blood stem cells or from donor bone marrow stem cells. Thalassemia minor is a mild form of the disease, so a transplant would not be needed.

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What's the best treatment to get rid of thalassemia?

What's the best treatment to get rid of thalassemia?

Can not: It is a genetic condition, which can declare itself as anemia. Carriers may have had inborn protection from malaria. You should learn as much as possible about your condition and it's inheritance. Your doc may refer you to a hematologist if your condition is severe.

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My mom gets thalassemia, so am I likely to get it later?

My mom gets thalassemia, so am I likely to get it later?

Depends: It depends on what kind of thalassemia and your mom's particular genetics for it. As well as your father's genetic/family history.

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Is there any genetic screening for thalassemia?

Is there any genetic screening for thalassemia?

Yes: Your pcp can order a simple blood test. If you are a silent carrier, this will show up. If you are not a silent carrier, you don't need to worry about passing on the gene.

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How can one inherit alpha thalassemia?

How can one inherit alpha thalassemia?

4 alpha genes...: It is a bit complicated given that there are 4 Alpha chain genes and Alpha thalassemia can involve mutations in one, two (in two different ways) or three genes (mutations in four genes is usually not compatible with life). For excellent website, see: http://www. Stjude. Org/stjude/v/index. Jsp? Vgnextoid=d966885309c6f110vgnvcm1000001e0215acrcrd.

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Are particular people at risk for beta thalassemia?

Are particular people at risk for beta thalassemia?

Yes: Thalassemia is one of the most common gene mutations in the world. Overall, an estimated 20-25 million people are carriers (1/300) (about 1/1000 in low-risk peoples, and about 1/30 in high-risk peoples). Low risk: japanese, korean, n. European caucasians, native canadians, native americans. High risk: mediterranean, middle eastern, south asian, south-east asian (western pacific rim), caribbean.

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