Beta-Thalassemia Screenig with Graph
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Beta-Thalassemia is a genetic blood disorder caused by mutations in the β-globin gene, leading to reduced or absent synthesis of β-globin chains in hemoglobin. This results in anemia and ineffective erythropoiesis
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🧪 Beta-Thalassemia Screening with Graph
Parameter | Details |
|---|---|
Test Name | Beta-Thalassemia Screening (Hemoglobin Electrophoresis or HPLC) |
Sample Type | Whole Blood (EDTA tube) |
Fasting Required | ❌ Not required |
Turnaround Time | 2–5 days |
Reporting | Includes a graph or chromatogram showing various hemoglobin types |
Common Technique | HPLC (High-Performance Liquid Chromatography) or Capillary Electrophoresis |
🧬 What Is Beta-Thalassemia?
Beta-Thalassemia is a genetic blood disorder caused by mutations in the β-globin gene, leading to reduced or absent synthesis of β-globin chains in hemoglobin. This results in anemia and ineffective erythropoiesis.
🔬 Purpose of the Test
Clinical Purpose | Details |
|---|---|
🔍 Carrier Detection | Identifies Beta-Thalassemia trait (minor) or disease (major/intermedia) |
👶 Prenatal/Pre-marital Screening | Prevents thalassemia major in offspring through early carrier identification |
🩺 Diagnostic Aid in Anemia | Helps differentiate thalassemia from iron deficiency anemia |
🧬 Genetic Counseling | For families with thalassemia history |
📈 Graph Output (HPLC/Capillary Electrophoresis)
The report includes a chromatogram or electropherogram showing hemoglobin fractions like:
Hemoglobin Type | Normal Range | Thalassemia Clue |
|---|---|---|
Hb A (Adult Hb) | 96–98% | ↓ Decreased in Beta-Thalassemia trait/major |
Hb A2 | 1.5–3.5% | ↑ Elevated (>3.5%) in Beta-Thalassemia trait |
Hb F (Fetal Hb) | <1% | ↑ Elevated (>10–90%) in Beta-Thalassemia major |
Hb E, Hb D, etc. | 0% | May indicate other hemoglobinopathies |
🧪 Interpretation Based on Graph/Fractions
Findings | Likely Interpretation |
|---|---|
↑ Hb A2 (3.5–7%) | Beta-Thalassemia Trait (Carrier) |
↑ Hb F (>10%) + ↓ Hb A | Beta-Thalassemia Major or Intermedia |
Hb A normal, normal A2 and F | Normal or iron-deficiency anemia |
Hb E, D, S peaks | Other hemoglobinopathies (e.g., HbE disease) |
🩺 Diseases Detected or Ruled Out
Condition | Relation |
|---|---|
Beta-Thalassemia Trait | Carrier state, asymptomatic, genetic counseling advised |
Beta-Thalassemia Major | Severe anemia, transfusion dependent |
Thalassemia Intermedia | Moderate symptoms, sometimes transfusion needed |
Other Hemoglobinopathies | Hb E, Hb D, Hb S (if co-inherited) |
🔄 Recommended Additional Tests
Test | Why? |
|---|---|
CBC (RBC indices) | Microcytosis (MCV < 80 fL), Hypochromia (MCH < 27 pg) |
Ferritin, Iron, TIBC | Rule out iron deficiency |
DNA Analysis (HBB Gene) | Confirm exact mutation in the β-globin gene |
Alpha Thalassemia Screening | Rule out coexisting alpha thalassemia |
Prenatal Genetic Testing (if needed) | Especially if both parents are carriers |
📋 Quick Summary Table
Test Name | Beta-Thalassemia Screening with Graph |
|---|---|
Sample | Whole blood (EDTA) |
Techniques | HPLC / Electrophoresis |
Key Indicators | Hb A2 > 3.5%, Hb F elevated, Hb A decreased |
Fasting Required | ❌ No |
Paired With | CBC, Iron Panel, Genetic Counseling, Ferritin |
Used For | Carrier detection, anemia evaluation, prenatal screening |
🧒 Special Note on Prenatal Testing
If both parents are carriers, prenatal testing through chorionic villus sampling (CVS) or amniocentesis is strongly advised to rule out Beta-Thalassemia Major in the fetus.
How our test process works!
