What this test measures
The Newborn Screening (NBS) for haemoglobinopathies uses HPLC (High Performance Liquid Chromatography) to identify the haemoglobin types present in a baby's blood: HbF (foetal — predominant at birth), HbA (adult — present in normal newborns), and any abnormal haemoglobin variants (HbS for sickle cell, HbE, HbD-Punjab, etc.). The sample is collected either as cord blood at birth or as a heel-prick (Guthrie card) within the first 5 days of life.
At birth, HbF dominates (~80%). HbA starts low and rises through the first 6 months as foetal haemoglobin declines. The presence of HbA at birth in normal proportions, with HbF, is reassuring. Detection of HbS at birth (FS pattern) suggests sickle cell disease; FAS suggests sickle cell trait; absent HbA with elevated HbF suggests beta-thalassemia major.
Why it matters
India has the second-largest tribal population with sickle cell disease in the world — concentrated in Maharashtra, Gujarat, Madhya Pradesh, Odisha, and Chhattisgarh. Beta-thalassemia major affects ~10,000 newborns each year. Untreated, sickle cell crisis and severe thalassemia have high infant mortality. Early diagnosis through newborn screening allows penicillin prophylaxis (sickle cell), early transfusion programmes (thalassemia major), pneumococcal vaccination, and parental counselling.
The Government of India and ICMR are scaling up newborn haemoglobinopathy screening in high-prevalence states. For families with known carrier status (positive thalassemia trait, sickle trait) or with previously affected children, NBS at birth or in the first month is strongly recommended. The Indian Society of Hematology endorses universal NBS in high-prevalence regions.
How to prepare
No preparation needed for the baby. Cord blood is collected at delivery; heel-prick sampling is done in the first 5 days of life. The lab needs information on parental ethnicity, family history of anaemia/thalassemia/sickle cell, and whether the baby has had any transfusion (transfusion within the last 3 months can confound interpretation).
Markers & reference ranges
Reference ranges below are typical adult values. Your lab's reported range may differ slightly based on the assay platform and patient demographics — always read your report against the range printed on it.
| Marker | Normal range | If low | If high |
|---|---|---|---|
| HbF (%)[1] | 60–90% at birth (declines through first 6 months) | Lower-than-expected HbF in a newborn — uncommon; may suggest in-utero transfusion or unusual genetic variant. | Persistent very high HbF beyond 6 months — beta-thalassemia, hereditary persistence of foetal haemoglobin (HPFH), or HbS-beta-thalassemia. |
| HbA (%) | 10–40% at birth | Very low or absent HbA at birth — beta-thalassemia major (FF or F + variant pattern) or sickle-cell disease with no HbA. | Normal — appropriate proportion of adult haemoglobin. |
| Hb Variant (HbS)[1] | Absent | — | FS pattern (HbF + HbS, no HbA) — sickle cell disease (homozygous SS). FAS pattern (HbF + HbA + HbS) — sickle cell trait (heterozygous). Confirmation needed by repeat HPLC at 6 months and parental testing. |
Newborn HPLC patterns
| Pattern | Haemoglobins | Interpretation |
|---|---|---|
| FA | HbF + HbA | Normal newborn |
| FAS | HbF + HbA + HbS | Sickle cell trait |
| FS | HbF + HbS only | Sickle cell disease (homozygous SS) |
| FSC | HbF + HbS + HbC | Sickle-C disease |
| FAE | HbF + HbA + HbE | HbE trait |
| FE | HbF + HbE only | HbE disease |
| FF only | HbF only (no HbA) | Beta-thalassemia major |
| F + HbBart's | Hb Bart's present | Alpha-thalassemia |
Frequently asked questions
When is newborn haemoglobin screening done?
Either as cord blood at delivery or as a heel-prick (Guthrie card) within the first 5 days of life. The earlier the better so treatment can be initiated promptly if needed.
Why is it important in India?
India has high-prevalence pockets of sickle cell disease (tribal Maharashtra, Gujarat, Madhya Pradesh, Chhattisgarh) and beta-thalassemia (across the country). Early diagnosis enables life-saving prophylactic care.
Does my baby need to fast?
No.
My baby's result shows FS — what does that mean?
FS = foetal haemoglobin + sickle haemoglobin, with no adult HbA. This pattern suggests sickle cell disease. Confirmation is by repeat HPLC at 6 months, parental testing (both should be at least carriers), and possibly HbS gene confirmation. Penicillin prophylaxis and paediatric haematology follow-up start early.
What is the difference between sickle cell trait and disease?
Trait (FAS) = one normal beta gene + one sickle beta gene; carrier, healthy, no symptoms but can pass on the gene. Disease (FS) = both beta genes are sickle; lifelong sickle cell anaemia with crises, infections, and organ damage if untreated.
How accurate is the test in newborns?
HPLC is highly accurate for detecting major variants (HbS, HbE, HbD, HbC). HbA2 quantification is unreliable in newborns, so beta-thalassemia trait is not diagnosed at birth — wait until 1 year of age for HbA2 quantification.
If my baby has a variant, what next?
Confirmation by repeat HPLC at 6 months, family testing, genetic counselling, and (for sickle cell or thalassemia major) connection to a paediatric haematology centre for early prophylactic care.
How is the sample collected?
A small heel-prick sample on filter paper (Guthrie card) or cord blood at birth. Painless for the baby; no preparation required.
Related Hematology / Anemia tests
Tests commonly ordered alongside NBS HEMOGLOBINOPATHIES PROFILE, or that help interpret an unexpected result.
Sources & references
- CDC — Newborn Screening for Sickle Cell Disease · accessed 2026-05-30T00:00:00.000Z
- NCBI StatPearls — Sickle Cell Anaemia · accessed 2026-05-30T00:00:00.000Z
- NCBI StatPearls — Beta Thalassemia · accessed 2026-05-30T00:00:00.000Z
- American College of Medical Genetics — NBS Recommendations · accessed 2026-05-30T00:00:00.000Z
Book with Zelnoo
Get your NBS HEMOGLOBINOPATHIES PROFILE test done at home — transparent prices, NABL-accredited labs.
Zelnoo lets you compare diagnostic test prices across NABL-accredited labs in Mumbai & Thane, book a free home phlebotomist visit, and receive digital reports in 24–48 hours into a consent-first report vault. No subscriptions, no membership fees — pay only for the test you book.
Book NBS HEMOGLOBINOPATHIES PROFILE now