Alpha Thalassemia Gene Analysis HBA1 Test
Short Name: Alpha Thalassemia HBA1/HBA2
Also known as: HBA1/HBA2 Gene Analysis, Alpha Globin Gene Mutation Test, Alpha Thalassemia Genetic Test
Alpha Thalassemia Gene Analysis HBA1 Test test available at DNA Labs India for ₹24,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing, 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.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the HBA1 and HBA2 genes that cause alpha thalassemia. It helps confirm a clinical diagnosis, determine carrier status, assess risk of severe forms in offspring, and guide reproductive decisions. It is also useful for evaluating unexplained microcytic anemia and for prenatal diagnosis in at-risk pregnancies.
- Test Code
- 6268
- CPT Code
- 81257
- ICD Code
- D56.0
- Price
- ₹24,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 2-3 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
Sample Collection
No special preparation required. Inform your doctor about any recent blood transfusions or bone marrow transplants.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and routine.
Report Delivery
You may resume normal activities immediately. There are no restrictions.
Timeline: Results are typically available within 2-3 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the HBA1 and HBA2 genes that cause alpha thalassemia. It helps confirm a clinical diagnosis, determine carrier status, assess risk of severe forms in offspring, and guide reproductive decisions. It is also useful for evaluating unexplained microcytic anemia and for prenatal diagnosis in at-risk pregnancies.
How to Prepare
- Use EDTA (lavender top) tube
- Fill tube to the indicated mark
- Mix gently by inverting 8-10 times
- Label tube with patient name and ID
- Transport at ambient temperature (15-25°C) if delivered within 24 hours; otherwise refrigerate
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Alpha thalassemia is a common inherited hemoglobinopathy in India. Genetic testing is essential for accurate diagnosis, carrier detection, and reproductive planning. Early identification can prevent severe complications like hydrops fetalis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted sample
- Incorrect tube (e.g., heparin)
- Insufficient volume
- Sample received after prolonged delay without proper storage
Understanding Your Results
αα/αα
No alpha thalassemia
-α/αα
Asymptomatic; normal or borderline RBC indices
--/αα or -α/-α
Mild microcytic anemia; usually asymptomatic
--/-α
Moderate to severe anemia; may require occasional transfusions
--/--
Fatal in utero; severe anemia and edema
Consult a geneticist or hematologist if you have a family history of alpha thalassemia, unexplained anemia, or if you are planning a pregnancy and belong to a high-risk ethnic group. Also, if you have received abnormal results from this test, seek professional genetic counseling.
Limitations
- ⚠This test does not detect all possible mutations; rare variants may be missed
- ⚠Large deletions may require additional methods like MLPA
- ⚠Results should be interpreted in conjunction with clinical and hematological findings
- ⚠Not intended for newborn screening
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection
- ●No genetic risks from the test itself
Interfering Factors
- ●Recent blood transfusion (within 2 weeks) may dilute patient's DNA
- ●Bone marrow transplantation can affect results
- ●Contamination of sample with another individual's DNA
- ●Insufficient DNA quantity or quality
Compare With Similar Tests
| Test | Alpha Thalassemia Gene Analysis HBA1 | Beta Thalassemia Gene Analysis | Hemoglobin Electrophoresis | Complete Blood Count (CBC) | Iron Studies |
|---|---|---|---|---|---|
| Comparison | Alpha Thalassemia Gene Analysis HBA1 |
Frequently Asked Questions
What is alpha thalassemia?
How is alpha thalassemia inherited?
What does the HBA1/HBA2 gene analysis test detect?
Who should get this test?
Is fasting required for this test?
What sample is needed?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
Can this test be done during pregnancy?
What do the results mean?
Are there any risks from the test?
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