When the body cannot make its own blood
Dr V.K. KHANNA
Thalassaemia major is an inherited blood disorder in which the affected children are not able to maintain haemoglobin (Hb) in the normal range (12-16 grams/dl). As a result, they require repeated blood transfusions to maintain Hb so that they can lead normal, active life. If left untreated, these children survive only up to 3-5 years.
It is believed that thalassaemia originated in the areas around the Mediterranean Sea and spread to different communities over time. In India, 3-17 per cent of our population is estimated to be thalassaemia carrier/minor. Every year 7,000-10,000 children with thalassaemia major are born in India. It is more prevalent in communities like Sindhis, Punjabis, Gujaratis, Marwardis, Bengalis, Saraswats and Gaurs.
kinds of Thalassaemia
Thalassaemia of two types: thalassaemia minor and thalassaemia major. Thalassaemia minors are people who carry one defective gene of thalassaemia.
They are normal except that during stressful situations like severe infection, surgery and pregnancy, they may have low haemoglobin.
Thalassaemia minor causes no problems per se. Many may also have generally low haemoglobin, which can be raised with folic acid intake.
Thalassaemia major is a serious blood disorder that causes severe anaemia and related complications. Patients have two defective genes of thalassaemia, one acquired from each thalassaemia minor parent. To survive, the affected children require repeated blood transfusions (every two-four weeks) for their whole life.
Inheritance
When one parent has thalassaemia minor, there is a 50 per cent chance of the birth of a thalassaemia minor child and 50 per cent chance of a normal child.
When both parents are thalassaemia minors or carriers, there is a 25 per cent chance of the birth of a thalassaemia major child, 25 per cent chance of a normal
child and 50 per cent chance of a thalassaemia minor child. Children born with thalassaemia major look normal at birth. They begin to look pale by the age of three-six months, become irritable and have feeding and appetite problems.
Their spleen and liver get enlarged. If not treated at this stage, infants start to develop facial changes in the form of prominent forehead, maxillary (cheekbo-nes) prominence, flat nasal bridge and protruding teeth.
Thalassaemia minor screening can be done by a simple blood test like complete blood counts (CBC). Further tests like HPLC /Hb electrophoresis can confirm the diagnosis.
Treatment of thalassaemia major includes repeated blood (packed cells) transfusions every 2-4 weeks for the whole life. The amount of blood and the frequency of transfusions increase with age.
As a result of repeated blood transfusions, thalassaemia patients develop iron overload. Unfortunately the human body has no natural mechanism of excreting the excess iron from the body, which gets deposited in and around the various vital organs of the body and ultimately causes organ failure. It is very important to remove the excess iron from the patient’s body by a process called iron chelation. This can be achieved by medicines only.
PREVENTION
Controlling the birth of more thalassemics is the only way to prevent the disorder. Public awareness, carrier detection and antenatal diagnosis are vital. Considering the high carrier rate in our country, the government needs to make testing for thalassaemia carrier status mandatory during pregnancy.
A simple blood test called Hb electrophoresis / Hb A2 will tell you whether you are a carrier or have a trait of thalassaemia minor. If tested on time, i.e., before starting a family, one can prevent the birth of a thalassaemia major child. During pregnancy, if the mother is found to be a thalassaemia minor, then the father is also tested. If two thalassaemia minors do plan a family, there is also a facility of testing the foetus.
Chorionic Villius Sampling (CVS) is done at 10-12 weeks of pregnancy. If the growing foetus is normal or thalassaemia carrier then the pregnancy is continued. If the test shows as thalassaemia major then termination of pregnancy is recommended.
Focus On A Cure
The only cure for thalassaemia major is a bone marrow transplant, which is extremely expensive and the success rate is also not very high. Research continues in the fields of cord blood transplant and gene therapy.
The writer is a senior consultant, Pediatrics Fortis Hospital, Noida