Hematologist
CION Cancer Clinics
Newborn screening for sickle cell disease and thalassaemia: what the result means | CION Cancer Clinics
A newborn blood test from the heel or cord can find sickle cell disease reliably in the first days of life. Beta thalassaemia major is harder to confirm at birth, because babies make little adult haemoglobin yet, so a worrying or unclear result is repeated in the following months. Every abnormal screen needs a confirming test before anyone gives a diagnosis. This page explains the result letters, the next steps and the limits. At CION Cancer Clinics, our haematologist cares for anaemia, bleeding, clotting and inherited blood disorders, with ArogyaSri, CGHS and cashless insurance accepted.
BP
Medically reviewed by Dr. Basudev PokhrelConsultant Haematologist · last reviewed September 2026, next review due September 2027
17+specialists on panel
15,000+patients treated
35+centres across Telangana & AP
4.8★ / 800+Google rating
On this page
- Can a newborn blood test find sickle cell disease and thalassaemia?
- What do the letters on your baby's result mean?
- What happens after the heel-prick test?
- What can newborn screening not tell you?
- What do families often get wrong about newborn screening?
- Which words on the report need explaining?
- Common questions about newborn screening
The short answer
Can a newborn blood test find sickle cell disease and thalassaemia?
Yes for sickle cell disease, and only partly for thalassaemia. A few drops of blood from your baby's heel or from the cord can show sickle cell disease reliably in the first days of life. Beta thalassaemia major is harder to confirm at birth, so a worrying result is usually checked again when your baby is a few months old.
Why screen a baby who looks perfectly well?
Babies with sickle cell disease look healthy at birth. The blood they are born with still protects them for a while. Problems such as serious infections can then start suddenly in the first year. Knowing early means your baby can start preventive medicines, get vaccines on time, and you can learn the warning signs before they ever appear.
Is it offered everywhere in India?
Not yet. Some government programmes screen newborns in districts where sickle cell disease is common, including tribal belts of Telangana and Andhra Pradesh. Many private and city hospitals offer it on request. Ask the hospital where your baby is born, before discharge if you can. If both parents are known carriers, tell the paediatrician early so the test is not missed.
A screening result is a first look, not a final diagnosis. Every abnormal result needs a confirming test.Reading the report
What do the letters on your baby's result mean?
Newborn reports list the types of haemoglobin found, in order of amount. F is the baby's own early haemoglobin. A is the adult type. S and E are variant types.
FA
The usual pattern at birth. No sickle haemoglobin was seen. It does not rule out a thalassaemia carrier state, which cannot be judged reliably this early.
FAS
Your baby is most likely a sickle cell carrier, also called sickle cell trait. Carriers are generally healthy and need no treatment. It does mean at least one parent carries the gene.
FS
No adult haemoglobin, only F and S. This points to sickle cell disease, or to sickle cell combined with beta thalassaemia. It needs a confirming test and a haematology review soon.
Do not wait for the next routine vaccine visit.F only
Only early haemoglobin was found. This can mean beta thalassaemia major. It is also common in babies born early, so it is repeated before anyone draws a conclusion.
FAE or FE
Haemoglobin E was seen. FAE usually means a carrier. FE may mean haemoglobin E disease or E combined with beta thalassaemia, which needs follow-up.
Not sure whether this applies to you?
Ask an oncologist
!
If your baby has been diagnosed with sickle cell disease
Any fever is an emergency, even if your baby seems fine otherwise. Go to the nearest emergency department straight away, or call 108, and say your baby has sickle cell disease. Go the same way for a sudden pale, floppy or unusually sleepy baby, or a swelling tummy. Do not give a fever medicine and wait to see.
The pathway
What happens after the heel-prick test?
-
The sample is taken
A few drops from the heel go onto a card, or blood is taken from the cord at delivery. Tell the staff if your baby has had a blood transfusion, because donor blood makes the result unreliable.
-
The laboratory separates the haemoglobin types
Most laboratories use a machine test called HPLC. Results usually come back within days, though timing varies between hospitals.
-
A normal or carrier result is shared
Keep the report safely. A carrier result in the baby is a reason for both parents to get tested before any future pregnancy.
-
An abnormal result is confirmed
A second sample is tested, often with the parents' blood too. A DNA test may be added where the pattern is unclear.
-
First haematology visit
If the diagnosis is confirmed, a haematologist explains the condition, starts preventive care and teaches you what to watch for at home.
-
Regular follow-up
Growth, blood counts and vaccines are checked on a schedule your team sets. Babies with possible thalassaemia are watched for falling haemoglobin over the first months.
Leave a number, we will call you
One field. No form to fill in, and no charge for the call.
Being straight with you
What can newborn screening not tell you?
It cannot tell you how severe your baby's condition will be. Two children with the same result can have very different lives. Severity depends on the exact genes, other inherited factors and the care your child receives.
Thalassaemia often shows up later
At birth most of a baby's haemoglobin is the early type. Beta thalassaemia affects the adult type, which only takes over in the first months. So a newborn test can miss thalassaemia major, or flag it without certainty. If your family has thalassaemia, ask for a repeat blood test or a DNA test, even when the newborn result looked normal.
Carrier status is not settled at birth
A beta thalassaemia carrier baby usually looks normal on a newborn test. The carrier state can be checked properly later in childhood, and certainly before marriage or pregnancy.
It is not a test for the parents
Your baby's result hints at what you carry, but it does not confirm it. Each parent needs their own blood test. A CION haematologist can read your baby's report and your own, and explain what they mean together.
Commonly believed
What do families often get wrong about newborn screening?
"Our baby looks healthy, so the test is not needed."
Babies with sickle cell disease and thalassaemia major usually look well at birth. The point of screening is to find them before they fall ill, while there is time to prepare.
"A carrier result means our baby has the disease."
A carrier has one changed gene and is generally healthy. Carriers do not turn into patients later. The result matters mainly for your baby's own marriage and family planning when grown up, and for your next pregnancy.
"Nobody in our family has it, so the result must be wrong."
Carriers can pass the gene quietly through several generations without anyone falling ill. A family history of good health does not rule it out. Ask for the confirming test rather than ignoring the first one.
"If the newborn test was normal, thalassaemia is ruled out."
Not always. Thalassaemia can be hidden at birth. If your child becomes pale, tired or feeds poorly in the first year, get a blood test regardless of the newborn result.
On your report
Which words on the report need explaining?
- HPLC
- The laboratory method that separates and measures the types of haemoglobin in a blood sample.
- HbF
- Foetal haemoglobin, the early type that a newborn has most of. It falls naturally over the first year.
- HbA
- Adult haemoglobin, the usual type after infancy. Its absence at birth is a signal that needs checking.
- HbS
- Sickle haemoglobin. One copy means carrier; two copies, or S with another change, mean disease.
- Trait
- Another word for carrier. A person with a trait is generally healthy but can pass the gene on.
- Confirmatory test
- A second, separate test on a new sample, done before any diagnosis is given.
Questions we are asked
Common questions about newborn screening
When should my baby be tested?
Usually in the first days after birth, from a heel prick or cord blood. If this did not happen, the test can still be done later, but the interpretation changes as haemoglobin types shift over the first year. Ask your paediatrician which test suits your baby's age, and mention any family history.
Does the heel prick hurt my baby?
It causes brief discomfort, similar to other newborn blood tests. Holding or feeding your baby during the prick helps settle them. There are no lasting effects. The small spot on the heel heals within a short time and needs no special care.
My baby's result says FAS. What should we do?
Your baby is most likely a sickle cell carrier and needs no treatment. Keep the report for the future. Both parents should be tested, because if both are carriers each pregnancy carries a chance of a child with sickle cell disease. A genetic counsellor can explain what that means for you.
Can the test be wrong?
Screening tests can occasionally give a result that a later test does not confirm. Babies born early, babies who had a transfusion, and samples taken too soon are the usual reasons. That is why every abnormal result is repeated before anyone gives a diagnosis.
If my baby has sickle cell disease, what care starts early?
Usually preventive antibiotics, a full vaccine schedule including extra vaccines, regular checks and teaching you the warning signs. Your haematologist decides the medicines and when to start them. Never start, stop or change them on your own.
Is newborn screening free?
In some government hospitals and programme districts it is offered without charge. In private hospitals there is usually a fee, which varies. Scheme rules under Aarogyasri, PM-JAY and state programmes change, so ask the hospital what applies to you at the time of the birth.
We already have one child with thalassaemia. Is newborn screening enough for the next baby?
Not on its own. You can ask about testing during pregnancy, which can give an answer months before birth. Speak to a genetic counsellor early in the next pregnancy, or before it, so that you know every option and its timing.
Who should we see with an abnormal result?
A paediatrician first, then a haematologist, ideally one who sees children. Bring the newborn report, both parents' reports if you have them, and any transfusion details. CION's haematology team can review the reports and help you reach the right specialist centre.
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.
Want a specific doctor for your case? Mention them when booking.
Book Free ConsultationBook an appointment with our specialist
Share your name and number — we'll call you back within 30 minutes to schedule your consultation.
Patient stories
Hear it from people we have treated
Every story is a video, in the patient's own words. Nothing here is a written testimonial.
Where to find us
Our centres in and around Hyderabad
Addressed by landmark, because that is how this city navigates. A haematology consultation can be booked at any of these centres through one helpline, and your team will tell you where each test or treatment takes place.
Warangal
Vizag
Sources
- NHS — Sickle cell disease
- NHS — Thalassaemia
- National Heart, Lung, and Blood Institute — Sickle Cell Disease
- National Heart, Lung, and Blood Institute — Thalassemias
- National Health Mission, Government of India — National Sickle Cell Elimination Mission portal
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
Carrier Screening and Genetic CounsellingThe full guide to carrier tests for familiesBoth Partners Are Carriers: What the Odds MeanWhat a carrier result means for your next pregnancyPrenatal Diagnosis for Thalassaemia and Sickle CellTesting during pregnancy rather than after birthTesting Siblings and Extended FamilyWho else in the family should be tested
Talk to us
Holding your baby's screening report?
Tell us what the report says. Our haematology team will explain it and help you reach the right specialist for the next test.