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Thalassemia can be diagnosed by Blood samples in which the red blood cells are looked under the microscope to assess their shape and number. Haemoglobin electrophoresis is carried out in order to distinguish the abnormal cells from the RBCs and hence, the type of Thalassemia can be identified. Iron levels are constantly monitored and in case of an enlarged spleen, tests for Haemoglobin H disease are carried out.
In case of a Bone Marrow Transplant, the major risk is Graft-versus-Host disease in which the donor cells start to attack those of the recipient and hence causes problems in relation to immunity. In addition to this, there is a chance of Graft rejection in which the donor stem cells do not function effectively in the recipient and fail to differentiate into blood cells. This would lead to thrombocytopenia and anaemia. The patient may also be prone to several infections after surgery and may experience nausea, vomiting, fatigue, weakness and diarrhoea. There are possibilities of damages to the liver, delayed growth in children, clotting in blood vessels and even bleeding in the essential organs of the body.
After a bone marrow transplant, the patient is monitored by the doctor for signs of graft rejection. A medication for GVHD is given to prevent it from occurring. Antifungals, antivirals and antibiotics are also given in order to prevent all sorts of infections. Regular blood tests are conducted in order to check if blood counts are back to normal and to check the functioning of the donor’s stem cells in the recipient. The patient may require blood transfusions in case of too much blood loss or slow recovery.
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Thalassemia, also known as Mediterranean anemia, or Cooley’s Anemia, is the name for a group of genetic blood disorders that cause severe anemia. People born with this disease cannot make normal hemoglobin which is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha, and beta and if the body doesn’t produce enough of the two proteins, the red blood cells fail to form properly and cannot carry sufficient oxygen. The result is severe anemia that begins in early childhood and lasts throughout life.
People of Chinese, Middle Eastern, South Asian, Mediterranean or African origin.
Thalassemia minor is a form of mild anemia and is a genetic inheritance from one parent. People with a thalassemia mutation only in one gene are known as carriers or are said to have this trait. It results in no anemia or very slight anemia.
People born with thalassemia major usually develop the symptoms of severe anemia within the first year of their life. Lacking the ability to produce normal adult hemoglobin, kids with thalassemia major are chronically fatigued, fail to thrive, and do not grow normally. Continued anemia usually causes bone deformities and eventually leads to death within the first decade of life, and only treatment to combat severe anemia is regular blood transfusions.
Regular blood transfusions allow people with thalassemia to grow normally and be active. Regrettably, transfusion results in deadly accumulation of iron in the heart and liver and if the excess iron is not removed then the patients may suffer from premature death due to iron overload.
If both parents carry thalassemia minor, their kids may have thalassemia minor, or they may have perfectly normal blood, or they may have thalassemia major. In each pregnancy, there is a 1 in 4 (25%) chance that their child will have normal blood, a 2 in 4 (50%) chance that the child will have thalassemia minor or a 1 in 4 (25%) chance that the child will have thalassemia major.
The only curative treatment for the children with Thalassemia is bone marrow transplant which is quite an expensive and costs around INR 22-25 lakhs in private facilities.