Written By: Prerna Mittra | Updated : May 11, 2024 11:43 AM IST
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Thalassemia is a genetic disorder and is inherited. (Photo: Freepik)
World Thalassemia Day 2024: While the haemoglobin present in red blood cells is responsible for supplying oxygen to all the cells in the body, in thalassemia -- which is a type of blood disorder -- normal haemoglobin production is depleted because of a genetic mutation. When the haemoglobin is low, it can cause severe anaemia.
Depending on the type of genetic mutation, thalassemia is classified into:
Depending on the severity of anaemia, thalassemia is classified into:
"In thalassemia major, which is a severe type of thalassemia, there is anaemia along with hampered haemoglobin production," says Dr Aditi Shah Kaskar, consultant haemato-oncologist and bone marrow transplant physician at HCG Cancer Centre Borivali. She adds that the child may require regular blood transfusion support in order to maintain their normal haemoglobin level. "It is diagnosed early in life, usually between 6 months and 2 years of age," she states.
On the contrary, in thalassemia minor, the anaemia is 'usually mild' and the patient may be able to lead a normal life without any treatment.
These are the most common symptoms of thalassemia:
Thalassemia is diagnosed based on a complete blood count (CBC) report. A simple blood test called Hb electrophoresis is done. According to the doctor, genetic mutation testing is also required sometimes to know the type of thalassemia.
Dr Aditi states that thalassemia is a genetic disorder and is inherited. "If both the parents are thalassemia minor, there is a 25 per cent chance of having a thalassemia major baby in each pregnancy." In order to prevent it , there needs to be health awareness. Prenatal diagnosis is also important. "If both the parents are thalassemia minor, or if a couple already has a child with thalassemia major, then prenatal testing is done in the developing fetus to make diagnosis of thalassemia major during pregnancy," the doctor explains.
Bone marrow transplantation, the doctor says, is the only treatment modality that can cure this disorder. "It has a very good success rate when done below five years of age. The best donor is a fully-matched sibling. Matched unrelated donor transplant, however, can also be done."
