Prevention of thalassemia required genetic test

Prof. Manmohan Prakash
We all are aware that the world has made a lot of progress in the field of medical science (from diagnosis to treatment). All the countries including India are getting its benefits in the form of increased human survival age, good precise treatment and prevention of various diseases. Although there are still some diseases whose treatments are still difficult, expensive or even not possible. Many genetic disorders like Thalassemia, Hemophilia, Sickle cell anaemia, Down syndrome, Cystic fibrosis and Taysachs etc. can be placed in these categories.
Genetic disorders like Thalassemia are expanding rapidly in India.Its burden is higher in Northern and Western region than Eastern, Southern and Central region. Thalassemia is characterised by faulty haemoglobin synthesis and RBC production in which the age of human red blood cells is much less than that of a normal healthy human being. Patients suffering from this disease require regular life- long medicines along with blood transfusion at regular intervals,which not only make the treatment expensive, but also make it out of reach of the poor family .
It is also well-known that thalassemia is a disease which is passed from parents to children. Actually genes of a parent are responsible for such hereditary diseases.These genes entered in the child through sex chromosomes (through reproduction) of parents . It is a proven fact that parents of thalassemia like disease can also have carrier genes in one or both of the sex chromosomes (i.e. sex chromosomes of mother and father ). If only one of the parents has thalassemia causing genes in the sex chromosome, then the child may have minor thalassemia and if both the parents sex chromosomes have thalassemia causing genes, then major thalassemia may occur, which is comparable more dangerous than minor thalassemia .In autosomal recessive condition, heterozygotes of either Alfa and Beta Thalassemia are usually asymptomatic and generally requires no treatment.But homozygotes and compound heterozygotes condition is responsible for Thalassemia syndrome disease which requires regular treatment.The classification of Thalassemia minor, major and intermediate is based on alpha and beta globin chain inequality.
In disease thalassemia , the general symptoms include – fatigue, weakness, lethargicness with anaemia and low RBC, however,in severe conditions patients show pale skin, facial bone deformation, slow physical growth, abdominal swelling, dark yellow urine. Patients suffering from this disease require regular blood transfusion with certain medicines . Doctors believe that bone marrow transplantation, stem cell therapy, chelation therapy and gene therapy may be very useful in this disease. But this kind of treatment is not only expensive but also not available in every hospital.
For better management of this disease parents are advised to follow (a) the careful selection of donors (if possible avoid remunerative donors) ,(b) regular checking ( c) keep records of red cell antibody, transfusion reaction and annual blood transfusion requirements (d) keep the post transfusion haemoglobin below 145-150 g/l (e) follow the doctor suggestions and do not break the treatment .The NGO like LION providing financial support for medical facilities to patients in almost every district.
In India cases of this disease are continuously increasing.Every year 10000 children are being born with this major thalassemia and approximately contributing ten percent in the total world incidence. With 42 million carriers India is now known as “Thalassemia capital” of the world.This statistics is alarming and showed that preventive and awareness strategies is not upto mark in India.May be due to majority of having low socio-economic status and low medical literacy.In recent years central government has taken initiative for treatment of rare disease -specially included diagnosis, prevention and treatment under the policy of Rare Disease 2021. The aim of 2023 world thalassemia day is to- be aware about this disease, share the knowledge about symptoms and treatment of such disease and come forward to care for the patients.
In India, most of the parents match the horoscope of the bride and groom before marriage, but never want to see their genetic horoscope.It means neither boys and girls who have decided for marriage or nor his family members never try to find out before marriage that the pair is suffering from any kind of genetic disease or carrying genes of such genetic disorder ?
We all know that in medical science it is said that ‘prevention is better than cure’.People must keep in mind that in modern medical science genetics disease identification facilities are available through which a person can easily know whether they are carrying genes which are responsible for genetic disorders or not. With premarital detection of the causative genetic disorder gene, parents have two options. One, they can prevent these carrier genes from being transferred to their next generation by avoiding marriage.Secondly if they want to marry then they have choice to refuse to give birth.Children can be adopted but they have no answer when their grown up children will ask from parents’ that why did you give birth to me to fight with these serious incurable diseases ?In the modern scientific age children will never grant excuses to their parents for lack of understanding about genetic disorder, ignorance of modern medical technologies for better offspring and unscientific thinking and knowledge about the future generations.Hence, for healthy and inherited disease free society Indian peoples are advised to see genetic horoscope or map before marriage or before child birth.Medical science also suggest that such diseases cannot be cured but can be prevented.Its prevention required parent genetic test for the presence of thalassemia gene, prenatal screening, preimplantation genetic diagnosis along with public awareness and education.We as good Indian citizens must think over these recommendations.

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