Pregnant women and new-born children will soon be also screened for blood disorders such as anemia, thalassemia and sickle cell during routine checkups at the Community Health Centres and Primary Health Centres under the Health Ministry’s National Health Mission across the States.
At present, pregnant women are screened for several blood tests, AIDS and high blood pressure and heart diseases among others.
According to a senior health official, hemoglobinopathies comprising of thalassemias and anemia and various hemoglobin (Hb) variants continue to plague the health system in the country. Hence, urgent need has been felt to test the pregnant women in her tremester and newly-born babies for the genetic disorders as well, as per the guidelines “Prevention and control of hemoglobinopathies in India” recently prepared by the experts in the sector along with Health Ministry officials.
As per the guidelines to be released shortly, the HPlC diagnostic machine, which is already available in many PHCs and CHCs, can be effectively used for the direct identification of hemoglobin variants with a high degree of precision in the quantification of major and minor, normal and abnormal, hemoglobin fractions.
Elaborating the need for such guidelines, the official said, for instance, a woman with the sickle cell disorder is more likely to have problems during pregnancy that can affect her health and the health of the unborn baby than a woman without SCDs. He added that during pregnancy, the disease can become more severe and life threatening. But early screening will ensure early prenatal care and care ful monitoring throughout pregnancy.
The appropriate laboratory tests will help in diagnosis and confirmation of these disorders, neo-natal screening or pre-natal testing will help identify the abnormality in the pre symptomatic or embryonic stage respectively; predict serious disorders of the globin- chain synthesis in the foetus and will also offer the option of termination of pregnancy and to permit genetic counseling of prospective parents.
As there is no nationwide survery to count exact numbers, the guidelines also proposes generating of patient registry for better management and prevention of such genetic diseases.
According to a rough estimates, there are around one lakh children with blood disorders while over six crore people have traits/carrier of blood disorders. Early prevention will also save medical costs as well as from mental agony.