Thalassemia is one of those rare maladies for which medical science has not found a cure yet. It is a serious genetic blood disorder whose gravity is compounded by the lack of social awareness. Unfortunately, ignorance about thalassemia is helping it to multiply faster than it is possible to contain its spread. Many amongst us are also responsible for this sad state of affairs.
Thalassemia is caused by variant or missing genes that affect how the body produces hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia make less hemoglobin and fewer circulating red blood cells than normal. The result is mild or severe anemia. Thalassemia is always inherited (passed from parents to children). Receiving variant genes from both parents causes moderate or severe thalassemia. A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children.
The symptoms of thalassemia depend on the type and severity of the disease. Symptoms occur when not enough oxygen gets to various parts of the body due to low hemoglobin and a shortage of red blood cells in the blood. “Silent carriers” and persons with alpha thalassemia trait or beta thalassemia trait (also called carriers) usually have no symptoms. Those with alpha or beta thalassemia trait often have mild anemia that may be found by a blood test.
In more severe types of thalassemia, signs of the severe anemia are seen in early childhood and may include: Fatigue (feeling tired) and weakness , pale skin or jaundice (yellowing of the skin) , protruding abdomen, with enlarged spleen and liver , dark urine , abnormal facial bones and poor growth
Blood Transfusions, Iron Chelating Therapy, Surgery, Bone Marrow or Stem Cell Transplants, Gene therapy are also treatments for Thalassemia. Although Thalassemia cannot be prevented, it can be identified before birth by prenatal diagnosis. People who have or believe that they may carry the thalassemia genes can receive genetic counseling to avoid passing the disorder to their children.
In India, Thalassemia major officially afflicts over 1, 00,000 people. Over 8,000 reported thalassemin births take place every year. But there are many more unreported cases. Surveys and medical studies have shown that certain sections of the population – such as Gujratis, Lohanas, Punjabis, Bengalis and certain tribes in the North-east are high risk carriers of the thalassemis trait. Treatment and care are prohibitively costly for most thalassemic families in India. They cost about Rs.8, 000 – 10, 000/ month. And yet do not ensure complete normalcy. As a result only 5% of patients are able to receive the proper treatment. Worse still, facilities for treatment are not even available and easily accessible in most parts of the country.
Government is taking major step to make this disease aware to the people in India. As Indians are least aware of this disease, they do not know what should they do and what not to do. So there is a government institution called THALASSEMICS INDIA. It is a national non-profit organization dedicated to the mission of creating widespread awareness about thalassemia and mobilizing resources for the benefit of the patients from the needy classes. The organizational structure of THALASSEMICS INDIA includes executive members and social workers.