Image for representation purpose only
When Ria (name changed), 4, was brought to Dr Esha Kaul, a bone marrow transplant surgeon at Jaypee Hospital, Noida, she was severely anaemic, her body’s blood forming ability was at an all time low. She needed blood transfusions every four-six weeks.
Ria is suffering from Thalassemia, a disorder in which there isn't enough blood formation in the body. It is a genetic disorder which a child acquires from his/her parents.
Thalassemic children -- over 10,000 are born every year in India-- generally look pale, have a poor appetite, are often irritable. The symptoms are apparent and most children get diagnosed at a very early stage, mostly within the first year.
Unfortunately, despite early diagnosis most of them get insufficient or delayed treatment. As a result, these children live a life of extreme discomfort. They require regular blood transfusions to maintain adequate haemoglobin in their blood. Besides, they also need chelation therapy to remove excess iron from the body. Iron overload, as a result of frequent blood transfusions, may affect the heart and liver of the patient.
Frequent blood transfusions also put them at a risk of severe life-threatening infections such as Hepatitis B, Hepatitis C, and HIV. "In India and other Asian or African countries, however, most children don’t get adequate and safe blood transfusions. Insufficient haemoglobin in the blood may lead to an enlarged liver and spleen and malfunctioning of the other organs in the body," says Dr Kaul.
Dr Esha Kaul
The need for blood transfusions increases with age. Most people suffering from thalessemia have a life expectancy of 30-40 years. "In western countries, however, people live up to 40-50 years of age as blood transfusion mechanism is quite effective there," she says.
Bone marrow transplant is the only curative option for those suffering from Thalassemia Major. Stem cells are the precursors of RBCs present in the bone marrow, and in thalassemia patients, the stem cells themselves carry the defect causing production of abnormal RBCs.
But when bone marrow cells from a healthy donor are transplanted into the patient, they make their own healthy RBCs. "This is an established and most effective treatment," says Dr Kaul.
A sibling is a potential donor, and there are high chances of a complete match and low chances of rejection. A special genetic test called HLA is conducted to identify genetic match. Other means of finding a match is through voluntary donor registries. There are voluntary bone marrow donors who register themselves in various registries. Their blood details are available online and a patient in need may look for a potential donor on these platforms.
Of late, researchers have also been trying to conduct half-match transplant or haploidentical transplants. This allows parents to be a donor. If successful, it will make transplant easily accessible to thousands of children who cannot get a donor.
A patient is generally given chemotherapy and anti-thymocyte globulin (ATG) 10 to12 days prior to the transplant, it reduce the risk of rejection. "Post transplant too, the patient needs special care. There is a special ward where we have special filters to clean the air in the room to avoid infections. A transplant patient has very low cell count and is highly susceptible to catching infections," says Dr Kaul.
The first three months are very crucial and require special care and multiple follow-ups, but unlike kidney or liver transplants, bone marrow transplant patient doesn’t require immune-suppressants for long. Most patients are generally weaned off immuno-suppressants within a year and thereafter they can lead an absolute normal life.
The first three months are very crucial and require special care and multiple follow-ups, but unlike kidney or liver transplants, bone marrow transplant patient doesn’t require immune-suppressants for long. Most patients are generally weaned off immuno-suppressants within a year and thereafter they can lead an absolute normal life.
The success of a transplant depends on two factors: age and management of the disease in its initial years. The success rate is as high as 90 per cent when a child is 4-5 years of age.
Besides, it is important that these children get adequate blood transfusions so that lack of haemoglobin doesn't result in irreversible damage to the organs.
Several studies are now exploring other possibilities to find a cure for thalassemia. One of the approaches involves insertion of normal gene in stem cells of the bone marrow of the patients. With the normal gene, the bone marrow cells are able to produce their own healthy red blood cells with normal haemoglobin.
Ideally, two thalassemia carriers should make discreet choices about marriage. Carriers often don't display any symptom of the disease. If both parents are the carriers of thalassemia, there are 25 per cent chances of children getting the disease. Even after marriage, one can test the fetus for thalessemia and take corrective measures in the early days of pregnancy.
Thalassemia : the facts
6 crore people suffer from Thalassemia Minor in India
Almost 3.4 per cent of the entire population of India has Thalassemia.
10,000 children are born with thalassemia in India every year.
North India has higher prevalence of Thalassemia
Common Symptoms:
Delayed growth and development
Tiredness
Pale skin
Bone deformities
Food & Exercise:
Take low-fat, plant-based diet
Limit intake of iron-rich foods such fish and meat
Avoid fortified food such as cereals and juices.
Regular walking and Yoga helps.