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CION Cancer Clinics
Genetic counselling for haemoglobin disorders | CION Cancer Clinics
Genetic counselling helps you understand a thalassaemia or sickle cell carrier result and what it means for your children. If both partners carry beta thalassaemia, each pregnancy has a one in four chance of thalassaemia major. A counsellor explains that chance, checks your reports, and sets out testing before or during pregnancy. The decisions stay with you. This page explains what happens in a session and what to ask. 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
- What does genetic counselling for thalassaemia actually do?
- Who should ask for genetic counselling?
- What happens in a counselling session?
- Which words will you hear in the session?
- What choices can a carrier couple talk through?
- What do families believe about carrier results?
- What can this page not tell you, and what should you ask?
- Common questions about genetic counselling
The short answer
What does genetic counselling for thalassaemia actually do?
Genetic counselling is a conversation, not a test. A trained counsellor or haematologist reads your blood reports, explains what your carrier result means, and sets out every choice you have, so that you decide with the full picture in front of you.
Why a report alone is not enough
A carrier report is a few lines of numbers and a short comment. It does not tell you what happens if your partner is also a carrier. It does not explain what to do if you are already pregnant. Families often read "trait" and panic, or read "carrier" and ignore it. Both reactions miss what the result actually means for your children.
What the counsellor does not do
A good counsellor does not tell you whom to marry, whether to have children, or whether to continue a pregnancy. Those decisions stay with you and your partner. The counsellor's job is to make sure you understand the chances, the tests on offer and their limits, and then to respect whatever you choose.
Counselling is most useful before marriage or before a pregnancy, when every option is still open. It still helps at any stage.Is this for you?
Who should ask for genetic counselling?
You do not need a diagnosis in the family to benefit. These are the situations where it matters most.
A carrier result on your own report
Your screening shows thalassaemia trait, or another carrier pattern such as sickle cell trait or HbE. You want to know what it means for a future marriage or pregnancy.
Both partners are carriers
This is the situation where counselling matters most, and ideally before a pregnancy begins.
Talk through
- The chance for each pregnancy
- Testing during pregnancy
- IVF with embryo testing
A child in the family has thalassaemia
Parents planning another child, and brothers and sisters of the affected child, can all be offered testing and a clear explanation of their own results.
A result that does not fit
Your report says "borderline" or "iron deficiency may mask the result", or the two partners' reports come from different laboratories. A counsellor can tell you which test to repeat.
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What happens in a counselling session?
Your reports are checked
Bring both partners' blood counts and the haemoglobin variant report, often called HPLC. The counsellor checks that the right tests were done and whether iron levels need checking before the result can be trusted.
Your family history is drawn
You will be asked about relatives with thalassaemia, frequent transfusions or early deaths in childhood. Marriage within the family is asked about too, without judgement, because it changes the picture.
The chances are explained
You hear what your combination of results means for each pregnancy, in plain words, often with a simple drawing. Ask for it to be repeated until it makes sense.
The options and next steps
You leave knowing which further test, if any, is suggested, when it has to be done, and where. Nothing has to be decided in the same session.
On your report
Which words will you hear in the session?
- Carrier or trait
- You carry one changed haemoglobin gene and one normal one. Most carriers feel well and need no treatment.
- Thalassaemia major
- A child who inherits a changed gene from both parents. It usually needs regular blood transfusions from early childhood.
- HbA2
- A type of haemoglobin measured on the HPLC report. A raised level is the usual sign of beta thalassaemia trait.
- HbS and HbE
- Other haemoglobin variants. Combined with beta thalassaemia trait in a partner, they can also cause illness in a child.
- Prenatal diagnosis
- Testing the baby's genes during pregnancy, from a small sample taken from the placenta or the fluid around the baby.
- DNA or mutation analysis
- A gene test that names the exact change each parent carries. It is usually needed before a pregnancy can be tested.
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When both partners carry
What choices can a carrier couple talk through?
When both partners carry beta thalassaemia, each pregnancy has a one in four chance of a child with thalassaemia major. The same chance applies every time. A healthy first child does not lower it for the next.
Testing during pregnancy
The baby's genes can be tested early in pregnancy. This works best when both parents' exact gene changes are already known, which is why counselling and DNA testing should happen before, or right at the start of, a pregnancy. Waiting until later narrows the options.
IVF with embryo testing
Some couples choose IVF, where embryos are tested before one is placed in the womb. It is costly, needs more than one attempt for many couples, and does not suit everyone. It is a route to ask about, not a default.
Choosing not to test
Some couples decide against testing for personal or religious reasons. That is a valid choice. Counselling then helps you plan for early diagnosis after birth and care close to home.
Commonly believed
What do families believe about carrier results?
"A carrier is sick and should not marry."
A carrier is not ill. Most carriers live ordinary lives and need no treatment. The only question a carrier result raises is whether the partner also carries, and that is answered with one blood test and a conversation.
"Our first child is healthy, so we are safe."
The chance is the same for every pregnancy. It does not change with birth order or with how the earlier children turned out.
"Taking iron will fix the low haemoglobin on my report."
Carriers often have small red cells that look like iron deficiency, but they may not lack iron at all. Iron taken without a test can do harm over time. Ask for an iron test before starting any tablets.
"Counselling means someone will tell us what to do."
It does not. Counselling gives you information and time. Every decision about marriage, pregnancy and testing stays with you and your partner.
Being straight with you
What can this page not tell you, and what should you ask?
This page cannot read your own reports. Carrier patterns vary, and some combinations, such as alpha thalassaemia or rare variants, need a specialist to interpret. A single report can also mislead if iron deficiency was present when the blood was taken.
How CION can help
CION's haematology team, led by Dr. Basudev Pokhrel, reviews your reports, explains the result and coordinates any further gene testing or pregnancy testing with qualified centres. CION does not perform these gene tests or prenatal procedures in-house.
Questions worth asking
Ask which exact tests were done, and whether they need repeating. Ask whether your partner's result is complete. Ask what DNA testing costs, how long results take, and whether Aarogyasri, PM-JAY, CGHS or your insurance covers any part of it. Scheme rules change, so check the current position before you plan.
Questions we are asked
Common questions about genetic counselling
Do both partners need to come to the session?
It helps a great deal. The result that matters is the combination of both partners' reports, and both of you will face the decisions that follow. If one partner cannot travel, bring their reports and connect them by phone. Parents may join too, if you want them there.
I am already pregnant. Is it too late?
No, but time matters. Testing during pregnancy has a window, and both parents' gene changes may need to be found first. Ask for counselling as soon as you learn that both of you are carriers, and tell the team how far along the pregnancy is.
My report says trait. Do I need any treatment?
Usually not. Most people with thalassaemia trait feel well and need no treatment. Your haemoglobin may sit a little low all your life. Do not start iron tablets unless a test shows you lack iron, and tell any doctor who treats you that you are a carrier.
Will my carrier status be kept private?
Your results are your medical information. They are shared with your partner or family only with your agreement. Deciding whom to tell, and how, is something many carriers find hard, and the counsellor can help you plan that conversation.
Should my brothers and sisters be tested?
Yes, it is sensible to offer it. If you carry a changed gene, each of your brothers and sisters may carry it too. A simple blood test tells them, and it matters most for anyone who is planning marriage or a pregnancy soon.
Does marrying a relative change the chances?
It can. Relatives are more likely to carry the same changed gene, so both partners being carriers becomes more likely. This is a reason to test both partners before marriage. It is not a judgement on the marriage, and counselling will not treat it as one.
Is one screening test enough?
Often a blood count and an HPLC report are enough to show carrier status. Sometimes they are not clear, especially with low iron or alpha thalassaemia. Then a repeat test after iron is corrected, or a DNA test, may be suggested. Your counsellor will say which applies to you.
What does counselling cost, and is it covered?
The conversation itself is usually part of a haematology consultation. Gene tests and pregnancy testing cost more, and coverage under Aarogyasri, PM-JAY, CGHS, ECHS, EHS or cashless insurance varies. Scheme rules change, so ask for a written estimate and check your cover first.
Your Haematologist
Meet CION's haematologist. One specialist for your blood report and your plan.
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 — Thalassaemia
- NHLBI — Thalassemias
- National Health Mission — National Health Mission, Government of India
- ICMR — Indian Council of Medical Research
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.
Keep reading
Related pages
Both Partners Are Carriers: What the Odds MeanThe chances for each pregnancy, explained in detailPrenatal Diagnosis for Thalassaemia and Sickle CellHow the baby is tested during pregnancyTesting Siblings and Extended FamilyWho else in the family should be testedCarrier Screening and Genetic CounsellingThe full guide to carrier screening
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Have a carrier report you are unsure about?
Tell us what the reports say so far. Our haematology team will explain the result and help you plan the next step.