1) What Is Thalassemia?

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.

2) Who carries Thalassemia?

People of Chinese, Middle Eastern, South Asian, Mediterranean or African origin.

3) What is Thalassemia Minor?

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.

4) What is Thalassemia Major?

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.

5) How can Thalassemia be treated?

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.

6) How do you inherit Thalassemia?

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.

7) Thalassemia treatment cost in India?

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.

Thalassemia Treatment

Thalassemia is an inherited genetic disorder which results in the abnormal production of haemoglobin. It is caused by a genetic mutation in the body that is passed on from parents to their offspring. In case both parents are carriers of the mutated gene form, and the child has two abnormal genes, the child will have Thalassemia. It leads to the destruction of red blood cells, as a consequence of which one also has Anaemia.

There are several forms of Thalassemia- Alpha and Beta depending upon the type of globin protein affected.

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The signs and symptoms of Thalassemia are-

Fatigue
Weakness
Pallor
Slow growth
Dark urine
Abdominal swelling
Facial deformities
Jaundice
Anaemia

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.

Thalassemia can be treated according to its severity. Mild Thalassemia / Thalassemia Minors do not need much treatment and may only require blood transfusions after pregnancy. In case of Moderate Thalassemia / Thalassemia Intermedia, folic acid supplements have to be given along with occasional blood transfusions. For severe thalassemia -

Iron Chelating Therapy- There is a build-up of iron in the body due to regular blood transfusions. In order to prevent iron from accumulating in various organs like liver and heart, the excess iron has to be removed.
Lifelong Blood Transfusions- Due to the abnormal production of globin proteins and the destruction of red blood cells in the body, regular blood transfusions are required. This can be inconvenient and can also cause adverse effects in the body.
Removal of Spleen– In case of hypersplenism, the requirement for blood transfusion increases and reduces the effectiveness of the iron chelation therapy, and hence has to be removed.
Bone Marrow Transplant – Also called as Stem cell Transplant, it is a permanent alternative instead of the lifelong blood transfusions required otherwise.

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.