It's All in the Blood
If you are a young executive contemplating marriage, it may be worth looking at your thalassaemia report and that of your partner. "It is a genetic blood disorder. People with this condition are not able to make enough 'normal' haemoglobin (Hb), which causes anaemia and related complications," explains Dr Sanjay Arora, MD of Mumbai-headquartered Suburban Diagnostics and one who is passionate about spreading thalassaemia awareness. Haemoglobin is the iron-containing protein in red blood cells, responsible for carrying oxygen from the lungs to all body parts.
Dr Arora and Dr Faisal Khan (he is medico-marketing and content head) point out that the key lies in building awareness and thus staying better prepared to avoid future health complications and the huge financial, social and emotional challenges that could follow.
"The birth of a 'thalassaemia major' or affected baby can only be prevented if we know the thalassaemia status of the parents before the baby is conceived. If both parents test positive for the carrier state (it is called thalassaemia minor), they should go for a prenatal diagnosis during the first trimester of pregnancy to know if the baby is affected. If affected, medical termination of pregnancy is advised," says Dr Arora. Blood tests and genetic tests are done to diagnose the same. India witnesses around 10,000 thalassaemia major births every year.
Common symptoms of the disorder include pale skin, weakness, delayed growth and even jaundice, leading to greater risks of infection, iron overload, gallstone, enlarged spleen and organ dysfunction.
In India, an estimated 1,00,000 people suffer from beta thalassaemia major while the average prevalence of beta thalassaemia carriers is 3-4 per cent of the population or 35-45 million people.
Depending on type and severity, treatment includes blood transfusion, iron chelation (removal of excess iron caused by blood transfusion) and bone marrow/stem cell transplant. "In India, more than Rs 15,000 crore is spent on treatment every year and 90 per cent of it is borne by patients," says Dr Arora.
What The Future Holds
There are two categories of thalassaemia - major and minor. "If an individual inherits a defective Hb gene from either parent, he/she has thalassaemia minor (the person is a carrier). People who inherit defective genes from both parents have thalassaemia major," explains Dr Arora. Those with thalassaemia minor do not show symptoms of the disease and lead a normal life. But individuals with thalassaemia major suffer from its adverse effects and require regular blood transfusion. Asked how research is helping with the treatment, Dr Arora says that gene therapy and cord blood transplantation, where stem cells from the umbilical cord blood of the mother are transplanted in the child with thalassaemia, could be of help. Foetal haemoglobin inducer drugs are also used to increase haemoglobin levels.
