Genetic test for the C377T variant in the HBA2 gene (Beta-globin gene mutation screening)
This test checks for a specific genetic change (C377T mutation) in the HBA2 gene, which is part of the hemoglobin structure in red blood cells. It may be used to assess inherited blood disorders or screen for conditions linked to hemoglobin variants.
["This test helps identify a genetic variation that could be linked to certain blood-related health concerns."]
Key facts at a glance
- LOINC
- 100762-4
- Short code
- HBA2 gene.c.377T>C Bld Ql
- Synonyms
- HBA2 gene.c.377T>C Bld Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of blood disorders like sickle cell disease, thalassemia, or other hemoglobinopathies. It could also be part of prenatal screening, newborn testing, or genetic counseling for certain conditions.
What to Expect Before the Test
No special preparation is needed for this genetic test. A small blood sample is typically taken from your arm, similar to other blood tests. If testing is done during pregnancy, it may involve a simple blood draw or, in some cases, a small sample from the placenta.
What the Results Mean
The test result will indicate whether the C377T variant is present in your DNA. If detected, it may suggest an increased risk for certain blood-related conditions, depending on your family history and other factors. Results are used to guide further medical evaluation or management.
Common Conditions Linked to This Mutation
The C377T variant in the HBA2 gene is associated with conditions that affect hemoglobin production or stability, such as thalassemia minor or other hemoglobinopathies. It may also be part of broader genetic testing for inherited blood disorders.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
This genetic test helps identify individuals who may carry a mutation linked to inherited blood disorders. Early detection can inform genetic counseling, family planning decisions, and potential preventive or management strategies. Results are interpreted in the context of your overall health, family history, and clinical presentation.
Short name
HBA2 Gene Mutation Test
Frequently asked questions
What does a positive result mean?
How is this test different from a hemoglobin A1c test?
Sometimes, genetic tests can be performed using saliva samples, but this particular test typically requires a blood sample to analyze DNA from red blood cells. Your healthcare provider will confirm the preferred specimen type with you.
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy