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Thalassemia - Symptoms and Causes

  • Posted on- Jun 19, 2017
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Thalassemia is the major hereditary blood disorder worldwide. Though it has aroused in the tropical regions, but due to its increasing spread it is found in far away areas from tropical regions. Around 40,000 new born children's are affected with Beta-Thalassemia, which is a very severe disease. And the child doesn't have other options than blood transfusion every year, even every month in severe cases. And profound blood transfusion cause increase in iron in the blood, which is equal dangerous to any person.

Haemoglobin is formed by globin chains, imbalance in the globin chains or mutation in the genes which form this globin chains, lead to formation of less haemoglobin in the red blood cell of thalassamia patient. Treatment where the ineffective globin chains can be substituted with a working functional globin chains, which can produce normal and adequate volume of haemoglobin in the blood of the patient.

There are many treatments which are emerging which can give a new life to thalassemia patients:

  • Bone marrow transplant: Bone marrow transplant is a procedure to replace damaged or effective bone marrow with healthy bone marrow stem cells. It relies high-dose chemotherapy to eliminate thalassemia-producing cells in the marrow and replaces them with healthy donor cells from bone marrow. But concentration of iron in blood also increases by this method
  • Gene therapy: Person with severe beta-thalassemia who required blood transfusion very frequently, can be treated with gene therapy to replenish the haemoglobin which can make the person transfusion-free. A functional beta globin chain is restored transferring a healthy gene, which can produce normal haemoglobin.
  • Iron chelation therapy- Iron chelating therapy can be used to reduce iron accumulation in the patients, which can decrease much mortality rate in patients. Here excess iron is removed from the body, by the use of special drugs. The drug binds to iron in a higher affinity than other compounds. And the drugs are removed y urine, stool or bile.
  • Nucleoside analogue: In the later stages of Beta-thalassemia, where blood transfusion can't work any further than nucleoside analogue of DNA such as azacitidine to stimulate transcription of of fetal globin chain by pharmacological means which can lead to more effective erythropoiesis. This drug inhibits the methylation of DNA within regions that regulate the formation of globin chains. This method can increase the life span of a patient, and also make him/her transfusion free for the rest of life.

Combination of drugs and this recent developed technique can increase the life span of a thalassamia patient to a much larger extent, and even help the patients with severe beta-thalassamia by making them transfusion free for their whole life and also by preventing the patients from the risk of iron accumulation in the blood.


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15-03-2018 12:59 PM

My sister arti, who is a thalassemia patient. She had been diagnosed as thalassemic when she was 3 month yr old. Results are good.

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15-03-2018 12:55 PM

I don't remember when I was diagnosed with beta thalassemia major, but my parents tell me I was around 1 year old.

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