Neonatal Hemoglobinopathy Profile
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Screening test performed on newborns to detect abnormal hemoglobin variants
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🧪 **What is the Neonatal Hemoglobinopathy Profile Test?
The Neonatal Hemoglobinopathy Profile is a screening test performed on newborns to detect abnormal hemoglobin variants. It helps identify conditions such as:
- Sickle cell disease (HbS)
- Thalassemia (alpha or beta)
- HbE, HbC, HbD traits
- Hereditary persistence of fetal hemoglobin (HPFH)
Testing is usually done via High Performance Liquid Chromatography (HPLC), Capillary Electrophoresis, or Isoelectric Focusing (IEF).
❓ Why is the Test Done?
To:
- Identify hemoglobin disorders early in life for timely intervention
- Prevent complications like anemia, infections, growth delay
- Detect carrier states (e.g. beta-thalassemia trait)
- Facilitate genetic counseling and family planning
It is part of newborn screening protocols in many countries.
📊 Normal Findings in Newborns
Hemoglobin Type | Expected Range (%) | Remarks |
|---|---|---|
HbF (Fetal) | 60–90% | Major hemoglobin at birth |
HbA (Adult) | 10–40% | Begins forming after birth |
HbA2 | <1% | Not reliable in neonates for beta-thalassemia |
HbS, HbC, HbE | 0% | Should not be present unless inherited |
📈 Interpretation of Abnormal Results
Finding | Possible Diagnosis |
|---|---|
HbS present (homozygous/major) | Sickle cell disease (SCD) |
HbS + HbA | Sickle cell trait |
Low HbA, high HbF | Beta-thalassemia major or HPFH |
HbE or HbC presence | Hemoglobin E or C disease/trait |
No HbA at all | Beta-thalassemia major, needs urgent eval |
🧠 Associated Conditions
Hemoglobinopathy | Potential Complications |
|---|---|
Sickle cell disease | Vaso-occlusive crises, infections, anemia |
Thalassemia major | Severe anemia, transfusion dependence |
Thalassemia trait | Usually asymptomatic, important for family planning |
HbE disease | Mild to moderate anemia |
🔄 Related / Follow-Up Tests
- Hemoglobin Electrophoresis / HPLC
- Genetic mutation analysis (HBB gene, alpha deletions)
- CBC with red cell indices (MCV, MCH)
- Ferritin / Iron studies – rule out coexisting iron deficiency
- Parental testing – carrier detection and counseling
✅ Fasting Required?
Test | Fasting Required |
|---|---|
Neonatal Hemoglobinopathy Profile | ❌ No |
Sample is typically taken via heel prick on filter paper (Guthrie card) or EDTA blood.
📝 Summary Table
Parameter | Details |
|---|---|
What | Screens newborn for abnormal hemoglobin variants |
Why | Early detection of sickle cell, thalassemia, HbE/C |
Normal Hb Pattern | Predominantly HbF, with some HbA, no HbS/C/E |
Abnormal Patterns | Suggestive of sickle cell, thalassemia, other variants |
Associated Conditions | SCD, thalassemia, HbE, HPFH |
Follow-up Tests | HPLC, gene testing, CBC, family screening |
Fasting Required | ❌ No |
How our test process works!
