Alpha Thalassemia HBA1 Test
Also known as: HBA1-HBA2 Deletion/Duplication Analysis, Alpha Globin Gene Analysis, Alpha Thalassemia Genetic Test
Alpha Thalassemia HBA1 Test test available at DNA Labs India for ₹13,600. Uses Deletion/Duplication Analysis, Multiplex Ligation-dependent Probe Amplification (MLPA) on Blood samples. Results in Results are typically available within 2-3 weeks after the sample reaches the laboratory. You will be notified via email or SMS when your report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the HBA1-HBA2 deletion/duplication analysis is to detect copy number changes in the alpha globin genes that cause alpha thalassemia. This test helps in: confirming a diagnosis of alpha thalassemia, determining carrier status, differentiating between alpha thalassemia trait and other anemias, guiding reproductive planning, and providing prognostic information for affected individuals. It is also used in family studies to identify at-risk members and in prenatal testing when both parents are carriers.
- Test Code
- 6271
- CPT Code
- 81405
- ICD Code
- D56.0
- Price
- ₹13,600
- Sample Type
- Blood
- Result Time
- Results are typically available within 2-3 weeks after the sample reaches the laboratory. You will be notified via email or SMS when your report is ready.
- Fasting Required
- No
- Method
- Deletion/Duplication Analysis, Multiplex Ligation-dependent Probe Amplification (MLPA)
Sample Collection
No special preparation is required. Inform your doctor about any recent blood transfusions or bone marrow transplants. Continue your regular medications unless advised otherwise.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and causes minimal discomfort.
Report Delivery
You can resume normal activities immediately. There are no restrictions after sample collection.
Timeline: Results are typically available within 2-3 weeks after the sample reaches the laboratory. You will be notified via email or SMS when your report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the HBA1-HBA2 deletion/duplication analysis is to detect copy number changes in the alpha globin genes that cause alpha thalassemia. This test helps in: confirming a diagnosis of alpha thalassemia, determining carrier status, differentiating between alpha thalassemia trait and other anemias, guiding reproductive planning, and providing prognostic information for affected individuals. It is also used in family studies to identify at-risk members and in prenatal testing when both parents are carriers.
How to Prepare
- Use EDTA tube for blood collection
- Ensure proper labeling of the sample with patient details
- Transport the sample to the laboratory at ambient temperature (15-25°C)
- Avoid hemolysis during collection and transport
- For saliva samples, use the provided collection kit and follow instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Alpha thalassemia is a common inherited hemoglobinopathy in India. Genetic testing for HBA1/HBA2 deletions is essential for accurate diagnosis, carrier detection, and prenatal counseling. Early diagnosis helps in managing complications and guiding reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect anticoagulant (e.g., heparin)
- Sample received after prolonged transit time (>7 days)
- Insufficient sample volume
- Unlabeled or mislabeled sample
Understanding Your Results
No deletion/duplication detected
No evidence of alpha thalassemia due to HBA1/HBA2 copy number changes. Other causes of anemia should be considered.
Heterozygous deletion of HBA1 or HBA2 (single gene deletion)
Silent carrier state (alpha-thalassemia minima). Usually asymptomatic with normal or slightly reduced MCV.
Heterozygous deletion of both HBA1 and HBA2 on same chromosome (cis deletion)
Alpha-thalassemia trait (minor). Mild microcytic anemia, may be asymptomatic.
Homozygous deletion of HBA1 and HBA2 (both alleles deleted)
Hemoglobin Bart's hydrops fetalis, a severe condition incompatible with life. Prenatal counseling is essential.
Compound heterozygous deletions
Hemoglobin H disease (deletion of 3 alpha genes). Moderate to severe anemia, splenomegaly, jaundice.
Consult a hematologist or geneticist if you have persistent anemia, family history of thalassemia, or if you are planning a pregnancy and belong to a high-risk group. Genetic counseling is recommended for all individuals with abnormal results.
Limitations
- ⚠This test detects deletions and duplications only; point mutations in HBA1/HBA2 are not covered
- ⚠It cannot determine the exact breakpoints of large deletions
- ⚠Results should be interpreted in conjunction with hematological parameters and family history
- ⚠In rare cases, uniparental disomy or complex rearrangements may not be fully characterized
- ⚠Test is not intended for newborn screening or routine anemia workup without clinical suspicion
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection (very low with sterile techniques)
- ●No radiation exposure or other significant risks
Interfering Factors
- ●Recent blood transfusion (within 2 weeks) may dilute patient DNA
- ●Bone marrow transplantation can lead to mixed chimerism affecting results
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Rare point mutations not detected by deletion/duplication analysis
Compare With Similar Tests
| Test | Alpha Thalassemia HBA1 | Complete Blood Count (CBC) | Hemoglobin Electrophoresis | Iron Studies | Next-Generation Sequencing (NGS) for Thalassemia |
|---|---|---|---|---|---|
| Comparison | Alpha Thalassemia HBA1 |
Frequently Asked Questions
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