Written By: N. Lothungbeni Humtsoe | Published : May 8, 2026 9:00 AM IST
Medically Verified By: Dr. Mitul Gupta
Carrier screening before pregnancy can help prevent inherited blood disorders. (Image: AI Generated)
Thalassemia is one of the most prevalent inherited blood diseases but many people do not know they are at risk of developing the medical condition until they are thinking about starting a family. Thalassemia is not an infectious disease but rather is genetically transmitted from parents to offspring. Experts note that carriers are typically healthy and the condition is often not diagnosed until years later. It is important to note that increasing awareness and early detection of disease can have a significant impact on preventing future generations from suffering serious complications.
Dr. Mitul Gupta, Senior Consultant of Obstetrics and Gynaecology at Cocoon Hospital, Jaipur said, "Some blood diseases such as thalassemia are not directly caused by the infection or lifestyle habits but they are mostly inherited from our parents. Therefore it is very important to make genetic screening prior to pregnancy particularly for couples who are planning to conceive."
The biggest problem with thalassemia is that carriers can be asymptomatic. Dr. Gupta says that, "Most of the folks who carry genes are typically healthy and they aren't aware that they could have a child who's impacted. This is a quiet disorder and many couples are not aware of the risks until they have a child who is diagnosed with a severe type of the disorder."
The gynaecologist went on to explain that both parents are carriers of the abnormal beta-thalassemia gene there is a high risk for each pregnancy. According to the National Heart, Lung, and Blood Institute (NHLBI) chances of pregnancy resulting in a child with beta-thalassemia major, beta-thalassemia carrier and normal gene at 25 perc ent, 50 per cent and 25 per cent, respectively , this is one of the reasons why pre-pregnancy screening is not an option.
Every year, thousands of children in India are born with Thalassemia, while many individuals remain unaware that they may be carriers of the condition.
In certain communities, the risk is significantly higher yet awareness continues to be limited. Timely information and early pic.twitter.com/AShQ5a62aL Thalassemics India (@thalindia) April 11, 2026
Fortunately thalassemia screening is easy and available, Dr. Gupta adds that there are laboratory blood tests which contain complete blood counts (CBC), haemoglobin evaluations and possible genetic evaluation. Such tests can be used to determine if someone is a carrier and give couples the information they need to make reproductive decisions.
The experts also state that screening prior to pregnancy provides couples with more options and guidance. "Carrier screening gives them genetic counselling, information about the risk and the opportunity to discuss their reproductive options if required. The purpose is not to instil fear in young couples," Dr. Gupta says. "But to raise awareness and preparedness."
The Centres for Disease Control and Prevention (CDC) also recommends carrier screening to help identify individuals who are carriers of gene mutations contributing to inherited disorders. These steps can have a lessening of emotional, physical and financial stress associated with life long treatment of severe thalassemia. For young couples considering having a baby doctors suggest that it is an important component of pre-pregnancy care to take into account carrier screening. "It's not just a medical test, it's really a very strong method to prevent issues and maintain the upcoming baby healthy," explains Dr. Gupta.
This information is for educational purposes only and not medical advice. Consult a qualified healthcare professional for diagnosis, screening recommendations, and genetic counselling guidance.
