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Thalassaemia screening in pregnancy: a guide for parents | CION Cancer Clinics
Thalassaemia screening is a blood test, ideally done by 10 weeks of pregnancy, that shows whether you carry thalassaemia, sickle cell or haemoglobin E. Being a carrier is usually harmless to you. The risk is to the baby only if your partner is a carrier too. If you both are, you can be offered a test on the baby, which is why early screening and quick partner testing matter. At CION Cancer Clinics, our haematologist cares for anaemia, bleeding, clotting and inherited blood disorders, with ArogyaSri, CGHS and cashless insurance accepted.
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Medically reviewed by Dr. Basudev PokhrelConsultant Haematologist · last reviewed September 2026, next review due September 2027
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On this page
- Why is thalassaemia screening done in pregnancy?
- How does screening work, from the first test to a decision?
- What does your screening result mean?
- How is thalassaemia trait different from thalassaemia major?
- What do families believe about thalassaemia screening, and what is true?
- What can screening not tell you, and where does a haematologist help?
- Common questions about thalassaemia screening in pregnancy
The short answer
Why is thalassaemia screening done in pregnancy?
Thalassaemia screening in pregnancy checks whether you carry a gene for thalassaemia or a related blood condition. If you and your partner both carry one, your baby could be born with a serious blood disorder, so the test is done as early in pregnancy as possible.
Carrier is not the same as disease
Most people who carry the gene are healthy. Doctors call this thalassaemia trait, or thalassaemia minor. You may have slightly small red cells or mild anaemia, a haemoglobin a little lower than usual, and nothing else. Many carriers only find out during pregnancy.
Why it matters so much in India
Carrying the beta thalassaemia gene is common across India, including in Telangana and Andhra Pradesh. Other related conditions, such as sickle cell trait and haemoglobin E trait, are common in some communities. When two carriers have a child, that child may inherit a gene from each parent. That child can then have thalassaemia major, which needs regular blood transfusions for life, or sickle cell disease.
What the word "haemoglobinopathy" means
It is the umbrella name for inherited problems with haemoglobin, the part of the red cell that carries oxygen. Thalassaemia and sickle cell disease are the two you are most likely to see on a report.
Screening looks at you and your partner. It does not, on its own, tell you anything about the baby.Step by step
How does screening work, from the first test to a decision?
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A blood count at your first visit
A routine complete blood count looks at the size of your red cells. Small red cells with a normal iron level are a clue that you may be a carrier. Many hospitals test for the gene directly as well.
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The haemoglobin test (HPLC)
HPLC is a lab test that sorts out the different types of haemoglobin in your blood. It picks up beta thalassaemia trait, sickle cell trait and haemoglobin E trait. It is the test that answers the question.
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Your partner is tested
If you are a carrier, your husband or partner is asked for the same tests straight away. If he is not a carrier, the baby cannot have the major form of that condition.
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Counselling if you are both carriers
A doctor or genetic counsellor explains the chance of the baby being affected, and what the options are. You are not asked to decide anything in that first conversation.
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Testing the baby, if you choose it
A test on a small sample from the placenta or from the fluid around the baby can show whether the baby is affected. It is done at a fetal medicine centre and carries a small risk of miscarriage.
Not sure whether this applies to you?
Ask an oncologistReading the result
What does your screening result mean?
These are the results families bring to us most often. Your own report needs a doctor to read it with your iron levels and your partner's result.
Not a carrier
Your HPLC shows normal types of haemoglobin. Your baby cannot inherit the major form of the conditions tested from you. A normal result does not rule out every rare type.
Beta thalassaemia trait
You carry one changed gene. You are healthy, though your haemoglobin may run slightly low. Your partner needs testing now.
What it does not mean
- It does not turn into thalassaemia major
- It does not mean your baby is affected
Sickle cell or haemoglobin E trait
Also a carrier result. It matters most if your partner carries sickle cell, haemoglobin E or beta thalassaemia, because some combinations cause disease in the baby.
Unclear or "borderline"
Low iron can hide a carrier result. Alpha thalassaemia often does not show on HPLC at all. Your doctor may repeat the test after iron is checked, or send a DNA test.
Ask for a haematology opinion rather than guessing.Side by side
How is thalassaemia trait different from thalassaemia major?
Trait (carrier)
Major (disease)
One changed gene, from one parent
Two changed genes, one from each parent
Usually no symptoms, sometimes mild anaemia
Severe anaemia starting in early childhood
No regular treatment needed
Regular transfusions and lifelong specialist care
Found on a blood test, often by chance
Usually found when a young child becomes pale and unwell
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If you are a carrier, do not wait for your next scan
The tests on the baby can only be done at certain stages of pregnancy. If your report says you carry thalassaemia, sickle cell or haemoglobin E trait, ask for your partner to be tested this week. If you are both carriers, ask your obstetrician for an urgent referral to a fetal medicine centre. A delay of a few weeks can close the window for testing the baby.
Commonly believed
What do families believe about thalassaemia screening, and what is true?
"Nobody in our family has thalassaemia, so we do not need the test."
Carriers are healthy, so the gene can pass silently through a family for generations. Many parents of a child with thalassaemia major had no idea they were carriers.
"My haemoglobin is low, so iron tablets will fix it."
Low haemoglobin in pregnancy is often from low iron, but not always. In a carrier, the red cells are small for a different reason. Your doctor checks your iron before deciding, so share your HPLC report with them.
"We married within the community, so the baby will be fine."
Marriage within a family or community can raise the chance that both partners carry the same gene. It is a reason to test, not a reason to skip it.
"Our first child is healthy, so the next one will be too."
If both parents are carriers, the chance is the same in every pregnancy. One healthy child does not change it for the next.
Being straight with you
What can screening not tell you, and where does a haematologist help?
Screening tells you whether you and your partner are carriers. It does not tell you whether this baby is affected. Only a test on the baby can do that, and whether to have one is your choice.
Who testing the baby may not suit
Some families would not change anything about the pregnancy whatever the result. Some are not comfortable with the small risk of miscarriage. That is a valid decision. Knowing early still helps, because the newborn can be tested and cared for from the start.
What this page cannot do
It cannot read your report. Rare types of thalassaemia, mixed results and low iron can all make a report hard to read. A single result is read alongside your blood count, iron studies and your partner's result, and reference ranges differ between laboratories.
Where CION fits
CION's haematology team, led by Dr. Basudev Pokhrel, reviews screening reports, explains carrier results to both partners and advises on what to ask next. Testing the baby and DNA tests are arranged through qualified fetal medicine and genetics centres. We coordinate with them rather than doing these tests ourselves.
Brothers and sisters of a carrier may be carriers too. Tell them, especially before they plan a family.Questions we are asked
Common questions about thalassaemia screening in pregnancy
My report says "beta thalassaemia trait". Is my baby at risk?
Only if your partner is also a carrier. Your baby may inherit your trait and be a healthy carrier too. The serious form happens only when a baby gets a changed gene from both parents. So the most useful thing you can do now is get your partner tested with the same HPLC test.
My husband is a carrier too. What happens now?
Ask your obstetrician for a referral to genetic counselling and a fetal medicine centre without delay. They will explain the chance of the baby being affected and the option of testing the baby. You do not have to decide on the spot, but the tests can only be done at certain stages.
Is the screening test safe in pregnancy?
Yes. It is an ordinary blood sample from your arm, the same as any routine blood test. There is no risk to the baby. Only the later tests on the baby itself, which use a needle through the tummy, carry a small risk of miscarriage.
Can I be screened if I am already several months pregnant?
Yes. It is never too late to know your carrier result. Later in pregnancy the options for testing the baby are fewer, but knowing still helps. Your newborn can be tested soon after birth and cared for early if needed.
Should we get tested before planning a pregnancy?
Ideally, yes. Testing before pregnancy, or even before marriage, gives a couple the most time and the most choices. It is a simple blood test. If one of you is found to be a carrier, the other can be tested calmly rather than under the pressure of a pregnancy.
I am a carrier. Do I need treatment during pregnancy?
Usually not for the trait itself. Your haemoglobin may be checked more often, and your doctor will look at your iron level before deciding whether you need iron. Do not start or stop any tablets on your own. Your obstetric team decides this.
What about sickle cell in pregnancy screening?
The same HPLC test picks up sickle cell trait. Sickle cell is common in some tribal and other communities in India, and there is a national mission to screen for it. If you or your partner carry sickle cell with thalassaemia or haemoglobin E, the same counselling applies.
Is this screening covered by government schemes?
Many government hospitals and some state and national programmes offer screening in pregnancy. Coverage under Aarogyasri, CGHS, ECHS, EHS, PM-JAY or cashless insurance depends on where it is done and the current rules. These change, so check with your hospital and insurer first.
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Dr. Basudev Pokhrel reviews blood counts, transfusion needs and blood disorders, and works with the CION tumour board on blood cancers.
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Sources
- NHS — Screening for sickle cell and thalassaemia
- NHS — Thalassaemia
- National Heart, Lung, and Blood Institute — Thalassemias
- National Health Mission — National Sickle Cell Anaemia Elimination Mission
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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Talk to us
Have a carrier result you are unsure about?
Share the HPLC report with our haematology team. We will explain what it means for you, your partner and the next step. One helpline serves every CION centre.