May 8 is observed as International Thalassemia Day to pay respect to the struggles of the patients suffering from this disease and to raise awareness about the disease and its prevention.

What is Thalassemia?

Thalassemia is a genetic disease due to mutation which leads to abnormal hemoglobin structure, hence the body gets rid of abnormal hemoglobin and the hemoglobin decreases. If there is a mutation in one gene, it is called Thalassemia minor. Thalassemia minor patients’ have only mild anemia, they can carry out their life normally without any major problems. But they are carriers of thalassemia. If both parents are Thalassemia minor, each of them may pass their mutations to the child and there is a 25% chance that the child will be born with Thalassemia major, which is a dreadful and serious illness. In such patients, hemoglobin becomes very low and they are dependent on blood transfusion regularly to stay alive.

Thalassemia in India

In India, approximately 3-4% of people are Thalassemia minor which translates into 3.5 to 4.5 crore patients. There are 1,00,000 Thalassemia major patients in India (2011 data) and 10,000 to 11,000 children are born with Thalassemia major every year. With such a high number of thalassemia patients, India is often called as “Thalassemia Capital of the World”.

Some communities have a much higher prevalence of Thalassemia minor, such as Sindhi, Punjabi, Kutchi, Lohana, Bhatia, Mahar, Gowda, Lingayat, etc, as high as 10% or more. As most of the marriages in India happen within the community, the chance of two Thalassemia minor marrying each other are much higher in such communities, and hence, they have a much higher number of Thalassemia major patients as well.

Care of Thalassemia major patients

Thalassemia major will require blood transfusion every 2-4 weeks. They also need treatment for the disease and its complications such as delayed growth and puberty, iron overload, hormonal disease, and sometimes infections such as Hepatitis B, Hepatitis C, and HIV. The body accumulates iron with repeated blood transfusion, which gets deposited into organs like the heart, liver, hormonal glands, etc. So patients need to take medicines lifelong to reduce iron from the body.

Overall, the patient will have frequent visits to the hospital with many days of absence from study and work. As age increases, complications pile up, which reduces the quality of the life. In general, the better the care, the longer the life span. But despite the best efforts from the doctors and the family, the future remains bleak for Thalassemia major patients.

Cure from Thalassemia major

Patients can acquire the capacity to make normal hemoglobin by changing their hematopoietic stem cells (the cells in the bone marrow which make blood cells). This treatment is called Bone Marrow Transplantation. This complex treatment is the only way to cure Thalassemia major. Any healthy person whose immune system fingerprint (called HLA typing) matches with the patient, can donate the bone marrow. The highest chance of being a match is with a brother and sister. If there is no match in the family, there are stem cell registries where someone can find unrelated matched donors.

Prevention of Thalassemia

Thalassemia minor is mostly an asymptomatic condition. Most of them will not be aware that they are the carrier of the Thalassemia gene. Their CBC will closely mimic the picture of iron deficiency if they don’t do advanced tests such as Hb electrophoresis. And as it is often seen, such an asymptomatic Thalassemia minor person marries another Thalassemia minor person and they may end up having a Thalassemia major child.

We need to end this. Widespread community efforts are needed to identify Thalassemia minor patients, especially from high-risk communities. All women in the childbearing age group, who have low hemoglobin, should get a thalassemia test done. If any woman is found to have thalassemia minor or any other hemoglobinopathy, her husband should get tested to see if he is a Thalassemia minor or not. The Thalassemia test is not costly and widely available. With the help of the test result, such carriers can be counseled about the risk, if they marry another carrier. All thalassemia minor couples should get tests on the child before birth, to detect thalassemia status, and to help them decide if it is suitable to continue the pregnancy or not.

So let’s pledge, to share knowledge about Thalassemia, help the patients in the treatment, and most importantly, make efforts on every level to prevent Thalassemia major. Be aware, share and care..!!

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