Bound by Blood
This is one of the many true stories of genetic counselling. I am changing names to protect confidentiality. I am sharing this story because every newlywed can learn from it.
Samir and Anne had fought against all kinds of odds as a couple — religious differences, financial difficulties, career crises. When I saw them at their appointment, none of those struggles mattered. They were happily married for a year, proud owners of a successful startup, and knew they were already in love with their baby growing in Anne’s belly. So what brought them to genetic counselling? Both had blood reports indicating they might be carriers of beta thalassemia.
What is Beta Thalassemia?
Beta thalassemia is a common (especially in India) genetic and inherited disorder of the blood in which the body has trouble producing regular haemoglobin. The abnormal haemoglobin results in red blood cells getting destroyed at a very fast rate, leading to anaemia. In India, about 4 crore people are silent carriers of thalassemia and about 10,000 babies are born with beta thalassemia each year.
The Genetic Counselling Journey
From family history assessment, it was uncovered that Samir belongs to a specific community in Gujarat known to have an increased frequency of thalassemia carriers. Since their risks for being a carrier were brought to light from a routine Complete Blood Test (CBC) showing Mean Corpuscular Volume (MCV) less than 90, haemoglobin electrophoresis was immediately ordered — confirming both Samir and Anne were carriers of beta thalassemia.
Routine CBC with a focus on MCV can be an invaluable carrier screen for thalassemia. Any couple with low MCVs must proceed to get haemoglobin electrophoresis.
During their genetic counselling appointment, three options were discussed: genetic testing to identify the exact gene change and then test the developing baby via amniocentesis; immediate amniocentesis with concurrent genetic testing; or choosing not to have genetic testing at all, since termination was never going to be an option for them.
Samir and Anne chose to get genetic carrier testing for themselves — to share with their families who were also planning babies — and to schedule a genetic newborn screening (NBS) test for their child at birth.
One Year Later
They had an emotionally rough pregnancy, chose to continue with it, had a baby whose genetic newborn screening test came back positive for thalassemia, started their baby on transfusions and chelation therapy, went global with their startup, and sent me many pictures. They called to invite me for a party — celebrating Sanaya’s 1st birthday. I couldn’t have asked for a greater honour. Or a better job.
Public awareness, carrier screening, and genetic counselling are key — during pregnancy and especially before conception.
Know Your Carrier Status Before You Plan a Family
MapmyGenome’s certified genetic counsellors help couples understand their carrier status for thalassemia, sickle cell disease, and other hereditary blood disorders — so you can make informed decisions before and during pregnancy.
