Preconception Screening for Thalassemia - Benefits

Marry for Love, get a Preconception Thalassemia Screening done for Prevention.

Thalassemia is a disorder that leads to mild to severe anemia and requires blood transfusion . There are comorbidities associated with iron accumulation leading to hepatomegaly , splenomegaly and also bone pain. This is preventable by preconception screening.

I do not advocate pre marriage screening, because the only thing that does is to create a social discrimination with very little information. Not all thalassemia require to be screened prenatally as they might not require blood transfusion and individuals can lead a normal life sometimes with the support of hydroxyurea therapies.

However, preconception screening of Thalassemia is essential as you can have reproductive choices.

1. The Most Common and Important reason is to check if you baby has the risk of Thalassemia. If your Thalassemia screening is positive and your CBC and Peripheral blood smear together suggests a life-threatening type of thalassemia, you can be directed to prenatal diagnosis by Chorionic Villi Sampling (CVS) or amniocentesis from 10 to 18 weeks of gestation. Here you would know the status of the fetus and you can take a decision. Currently 24 weeks is the cut off but the amended PCPNDT act says even after that you can seek the counsel of the medical board and terminate in case of genetic disorders.

2. You can also opt for preimplantation genetic testing, where embryos created from your own gametes ( eggs and sperms ) can be screened for the genotype which the parents are carriers. The healthy embryo can be implanted and you can have a healthy baby without undergoing the trauma or anxiety.

3. The above is also important for couples who already have children with thalassemia. You can also screen embryos for HLA match with your elder sibling and screen for thalassemia . This way you can plan for a bone marrow transplant or stem cell therapy.

4. You can also seek for gamete donation where the IVF center will help you with the donor.

But do understand there are more than 92 other recessive disorder / x linked disorder which are life-threatening and follow same inheritance pattern like thalassemia like SMA , cystic fibrosis , CAH , muscular dystrophy, metabolic disorders where parents can be carriers and have no history. Screening for these are suggested by ACMG . ( American counsel of medical genetics ) . Tests are of the order of Rs.15,000 to 16, 000/- and if you can screening for these before conception is suggested as means of prevention . But none of these screening should be used as a social discrimination before marriage. The only reason you should marry is if you love the person or you like the person through limited courtship of a arranged marriage. Rest science can take care.

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