By Mr.Praveen Gupta, MD of premas lifescience

New Delhi, May 12, 2018: Thalassaemia is a genetic blood disorder characterised by unusual production of haemoglobin in the body. The defect results in insufficient oxygen transport i.e severe anaemia due to abnormal haemoglobin production. The disorder has a severe impact on the body including excessive iron, bone deformities, enlarged spleen, slow growth rate for children and in certain cases also lead to heart disorders. The disorder has no cure and people living with thalassaemia require regular blood transfusions to maintain a routine lifestyle.

Thalassaemia by numbers

India has one of the largest disease burden in the world for thalassaemia. There are over 40 million carriers and over 100,000 thalassaemia majors under blood transfusion every month. In a study by ICMR (Indian council of Medical Research) during 1980-1990, the prevalence of beta thalassemia trait is 5.5% in Delhi.

Although thalassaemics continues to grows in our country, we are nowhere close to a prevention programme!

Regardless of the alarming numbers, there has been no move to put in place prevention and control programme at the national level. With this lack of awareness in terms of education, genetic counselling and preventative screening programs, thalassemia carriers are unintentionally passing on this genetic disorder to their children.

Government and non-government organizations have been working towards measure to address the challenge of Thalassaemia screening and counselling for the last 3 to 4 decades but community control in a vast and diverse country like India is challenging. Hence a national programme reaching all rural regions where almost 70% of our population resides has not been initiated.

Carriers are unknowingly passing on this genetic disorder to their children

It has been suggested that there would be 32,400 babies with a serious haemoglobin disorder born each year based on 27 million births per year in India. Of the 10,000 to 12,000 thalassemic children born annually in India, very few are optimally managed mainly in urban regions although the Government of India has included the care and management of patients of thalassemia and sickle cell disease in the 12th Five Year Plan. We need a national plan to avert, manage and offer sufficient treatment for patients. Patients require both free blood transfusions clubbed with free lab tests and iron chelation medicines and other supplements, which are high-priced. The disease can be controlled if gynaecologists join hands with genetic counsellors and screen for thalassaemia in every pregnant woman.

Prenatal tests and Family genetic studies the solution

Prenatal tests can detect these blood disorders before birth. Family genetic studies facilitate to know if people have missing or altered haemoglobin genes that cause thalassemias. If one is expecting a baby and if either partner is a thalassemia carrier, one should consider prenatal testing.

Carrier Genetic Test (CGT) can be conducted before pregnancy, which can help make out if the baby will stand the risk of having any of the serious diseases including thalassemia. Hence once identified in advance, measures can be taken to prevent the disease. CGT is a significant genetic test related to family planning as it facilitates in determining the percentage of risk involved with the birth of the child. It also helps in discovering if the parents are the carriers of the genetic disorder. The test needs to be conducted in both the partners. In the cases where both members of the couple are established to be carrier of the same recessive gene, they can consult their specialist about the option of Pre-implantation Genetic Diagnosis (PGD) to conceive a healthy child.

Corporate Comm India(CCI Newswire)