Doctor insights on:
Thalassemia In Athletes
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
Familial blood trait: Thalassemia runs in families. It is caused by variations (mutations) in DNA, which is then passed on to future generations. There are many variations in the DNA (genes) that code for hemoglobin molecules inside red blood cells. Some of these variations cause the hemoglobin production to be very slow, so blood cells stay too small because they can't form enough hemoglobin to grow to normal size. ...Read more
Millions of carriers: 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. ...Read more
From Mom and/or Dad: Alpha thalassemia is caused by a mutation in one or more of the 4 genes that code for (holds the dna for) Alpha globulin, which is needed to make hemoglobin for new red blood cells. Beta thalassemia is caused by a mutation in one or both of the 2 beta globulin genes. Mom and/or dad can carry the mutations. A child can inherit a mutation from mom, from dad, or from both mom and dad. ...Read more
Thalassemia major can cause severe anemia and cardiac decompensation in first few months of life if not treated. Thalassemia minor causes mild anemia.
Thalassmia intermedia may require transfusions.
Severity of anemia causes pallor, jaundice, hematopoises in other organs causing splenomegaly, neurological symptoms, pallor, deformilty of bones of face/skull ...Read more
Trouble making blood: Alpha thalassemia is caused by a mutation in one or more of the 4 genes that code for (holds the dna for) Alpha globulin, which is needed to make hemoglobin for new red blood cells. Beta thalassemia is caused by a mutation in one or both of the 2 beta globulin genes. Persons with thalassemia have less or little ability to make Alpha and/or beta globulin, so they can't make enough red blood cells. ...Read more
Millions: Thalassemia is likely the most common one-gene mutation 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. ...Read more
Age doesn't matter: Thalassemia is an inherited condition; if you have it, you're born with it. The frequency doesn't change with age. It's more important where your ancestors are from. Thalassemia is common in Southeast Asians, African-Americans, and persons from around the Mediterranean Sea. If you come from these areas it's more likely you have it than if you're from Northern Europe, but still not really likely. ...Read more
Depends on whether thalassemia is trait (minor) or disease (major)---which requires frequent transfusions for major.
Also depends on whether you have alpha or beta thalassemia. All thalassema will cause some anemia which can affect the blood system and cardiovascular system as well. Ask your physician to discuss with you the type you have.
Good luck. ...Read more
Trait is more common: The thalassemia trait is a fairly common finding in certain ethnic groups (those of mediterranean, african, and some Asian descents). The trait is generally a mild condition the contributes to a mild form of anemia that generally does not cause any problems. If both genes are affected, a child will have thalassemia which causes a much more significant type of anemia. That condition is more rare. ...Read more
I'm not aware...: Of a thalassemia specific diet. A few thoughts though. A balanced diet is advised for anyone. Thalassemia pts can have ineffective erythropoiesis, and more rapid red cell turnover. Thus a folate (folic acid) supplement could be warranted. Also, pts often have more robust fe absorption, so monitoring may be warranted. You should be followed by a hematologist or a primary provider comfortable w/ thalassemia. ...Read more
More info needed: Effects are entirely dependent on what form of thal you have. Thal minor is not usually a problem, but causes a problem for a baby born to parents who both have thal minor and the baby received a gene for thal from each parent--this produces a condition known as thal major, and requires transfusion therapy, usually monthly. Iron overload from transfusions and extramedullary erythropoiesis--. ...Read more
Autosomal recessive: It is autosomal recessive inheritance. If two parents are carriers, 25% normal, 50% carriers, and 25% affected with disease. I hope this helps. :) ...Read more
Thalassemia: One study estimates that symptomatic individuals arise at 1 in 100, 000 throughout the world each year. The number is closer to 1 in 10, 000 in the European Union where the disease is more frequently expressed. Currently, there are approx. 1000 patients with severe thalassemia in the US. ...Read more
Yes: The presence of a thalassemia syndrome can often be suspected from new born screening, which leads to diagnosis very early in childhood. All states perform newborn screening for qualitative and quantitative hemoglobin disorders. But, there are hundreds of such disorders, so we can't (nor should we) test for all of them routinely. Making sure your pediatrician knows your family history is importan. ...Read more
Depending upon the..: Type and severity of your thalassemia syndrome, you could experience hemolysis from damage to the red cell membrane that accompanies the accumulation of globin aggregates. As such folate (folic acid) and a multivitamin with B12 is reasonable. Some pts with thal ayndromes are also at risk for iron overload from increased absorption and/or transfusions. Otherwise, I'm not aware of a specific thalassemia diet. ...Read more
Is thalassemia have something should and should not do or eat? I am 24 years old and just know that I have thalassemia
Hello! I am a pre med student. I am currently writing a definition essay about thalassemia right now. Any recommendations?
Do your research: Your supervising teachers will want to see evidence that you went to reliable sources, compiled an appropriate list of these references and your essay demonstrates a true understanding of the disorder. The national library of medicine is such a source. ...Read more
Very rarely: Thalassemia comes in many degrees of severity. Patients with Alpha or beta thalassemia minor are mildly anemic but typically are very healthy and have a normal lifespan. Beta thalassemia intermedia and major, and 3 gene Alpha thalassemia are increasingly more severe and require more intervention, but patients who receive good care and follow their doctor's instructions can lead a normal life. ...Read more
Marrow Transplant: Currently the only way to "cure" thalassemia is to replace enough of the marrow cells that make red cells/ hemoglobin to result in normal oxygen carrying and delivery as well as reduced numbers of fragile red cells. And the only way to do this is by bone marrow transplantation. ...Read more
Bone marow transplan: Just like what dr. Kwok said- the only thing that can cure thalassemia major is allogeneic bone marrow transplantation. Otherwise, the rest of management of thalassemia major is mainly supportive care with blood transfusion, iron chelating agent, and other treatment to reduce the complication from iron overload. No major treatment needed for thalassemia minor or trait -discuss with your doctor. ...Read more