Beta Thalassemia-9 Common Mutations Screening (Single) Test
About Beta Thalassemia-9 Common Mutations Screening (Single) Test
| Field | Value |
|---|---|
| Also Known As | Beta Thalassaemia 9 Mutation Panel, β-Thalassaemia Common Mutations Screening, HBB Gene 9 Mutation Screen |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 5 days |
| Recommended For | All genders and ages; especially couples planning pregnancy, individuals with a family history of thalassaemia, and those from high-carrier-prevalence communities |
| Price | Starting at ₹9,600 |
What is a Beta Thalassemia-9 Common Mutations Screening (Single) Test?
The Beta Thalassemia-9 Common Mutations Screening test is a molecular genetic test that examines your DNA for nine of the most common mutations in the HBB gene. The HBB gene carries instructions for making beta-globin, a key component of haemoglobin, the protein in red blood cells that carries oxygen. A small sample of peripheral blood is collected and analysed using End Point PCR, a technique that identifies specific gene changes.
This test is also known as the Beta Thalassaemia 9 Mutation Panel or HBB Gene 9 Mutation Screen. It is prescribed for carrier screening, pre-marital testing, and for individuals with a family history of thalassaemia.
What Does a Beta Thalassemia-9 Common Mutations Screening (Single) Test Measure?
This is a qualitative test, meaning it does not produce numerical values. Instead, it reports whether specific HBB gene mutations are present or absent. The nine mutations screened are among the most prevalent in the Indian population.
The most commonly detected mutations in this panel are listed below:
| Mutation | Significance |
|---|---|
| IVS 1-5 (G to C) | The most prevalent mutation in India; accounts for a large proportion of cases |
| IVS 1-1 (G to T) | Among the five most common beta-thalassaemia mutations in India |
| Codon 41/42 (−TCTT) | One of the five most common mutations in the Indian population |
| Codon 8/9 (+G) | Among the five most common mutations found in Indian patients |
| 619 bp deletion | One of five mutations accounting for over 90% of Indian cases |
| Codon 15 (G to A) | Together with the above five, accounts for 92% of cases in India |
| Cap +1, −88, Codon 30 | Additional variants common to South Asian populations |
Each mutation is reported as not detected, heterozygous (one mutated copy, indicating carrier status), or homozygous/compound heterozygous (two mutated copies, indicating thalassaemia major or intermedia).
Why is a Beta Thalassemia-9 Common Mutations Screening (Single) Test Done?
This test is used for carrier identification, pre-marital screening, and to confirm or rule out beta-thalassaemia in individuals showing relevant symptoms or test abnormalities.
Common Symptoms That May Require This Test
The following symptoms or findings may prompt a doctor to recommend this test:
- Unexplained chronic anaemia (persistently low red blood cell count)
- Fatigue and weakness without a clear cause
- Pallor (pale appearance of skin or inner eyelids)
- Slow growth or poor weight gain in children
- Abnormal HPLC or haemoglobin electrophoresis results
- Family history of thalassaemia or related haemoglobin disorders
- Pre-marital or pre-conception carrier screening
Conditions This Test Can Help Detect
This test can identify or support the diagnosis of the following conditions:
- Beta-thalassaemia major (severe form caused by absent beta-globin production)
- Beta-thalassaemia intermedia (moderate severity)
- Beta-thalassaemia minor or trait (carrier state with one mutated gene copy)
- Compound heterozygous states (two different HBB mutations, one on each gene copy)
Beta Thalassemia-9 Common Mutations Screening (Single) Test During Pregnancy
This Beta Thalassemia-9 Common Mutations Screening test is particularly relevant during pregnancy. Ideally, screening is performed before conception or early in the first trimester (before 8 weeks). In India, the average prevalence of beta-thalassaemia carriers is 3-4%, making antenatal screening an important step. If the mother is identified as a carrier, the father is then tested; if both are carriers, options such as prenatal diagnosis through chorionic villus sampling can be discussed with a specialist.
How to Prepare and What to Expect
Preparing for the Beta Thalassemia-9 Common Mutations Screening (Single) test is straightforward, as it requires no special dietary restrictions.
Do You Need to Fast?
No fasting is required. This is a DNA-based test and is not affected by food, drink, or the time of day.
Practical Tips Before Your Test
Keep the following points in mind before your sample is collected:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform the laboratory if you have had a recent blood transfusion, as this may affect DNA analysis.
- Bring any prior HPLC or haemoglobin electrophoresis reports if available, as these provide useful clinical context.
- No medication restrictions apply, but inform your doctor about all medicines you are taking.
- Wear clothing with loose or short sleeves for easy access to the arm.
Step-by-Step Procedure
Here is what to expect during sample collection:
- A trained phlebotomist cleans the skin on your inner arm with an antiseptic wipe.
- An elastic band is placed on the upper arm to make the vein more visible.
- A small needle is used to collect approximately 2 mL of blood into a lavender-top EDTA tube.
- The needle is removed, and gentle pressure is applied to stop any bleeding.
- The labelled sample is stored at 2-8°C and dispatched to the molecular biology laboratory.
- In the laboratory, DNA is extracted from the blood and analysed using End Point PCR to detect the nine target HBB gene mutations.
Factors That Can Affect Accuracy
The following factors may influence the reliability of your result:
- Recent blood transfusion (donor DNA may interfere with genotyping)
- Poor sample quality or incorrect EDTA tube handling
- Mutations that fall outside the nine variants covered by this panel
- Co-inheritance of alpha-thalassaemia, which can complicate interpretation
Understanding Your Beta Thalassemia-9 Common Mutations Screening (Single) Test Results
Results from this test are reported as qualitative findings rather than numerical values. Your doctor or genetic counsellor will interpret them alongside your clinical history, family background, and other haematological results such as a CBC or HPLC.
| Result | Interpretation |
|---|---|
| No mutation detected | No carrier status identified for the 9 mutations tested |
| Heterozygous (one mutation found) | Carrier / beta-thalassaemia trait (minor); clinically asymptomatic in most cases |
| Homozygous or compound heterozygous (two mutations found) | Beta-thalassaemia major or intermedia; requires clinical correlation |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain circumstances can affect how results are interpreted:
- Recent blood transfusion: Transfused white blood cells carry donor DNA, which may cause inaccurate genotyping. Testing is best done before transfusion or at least 3 months after the last one.
- Co-inheritance of alpha-thalassaemia: This can alter the clinical severity expected from a given beta-thalassaemia genotype, making specialist correlation necessary.
- Rare mutations: Approximately 200 mutations causing beta-thalassaemia have been identified. This panel covers the nine most common ones but may not detect rarer variants.
How to Maintain Healthy Levels
Since this is a genetic test, "maintaining levels" is not applicable in the usual sense. The following general tips apply to carriers and those with confirmed status:
- If you are identified as a carrier, seek genetic counselling before planning a family to understand the inheritance risks.
- Encourage your partner to get tested if you are found to be a carrier, so that the risk to future children can be assessed.
- Maintain a balanced diet with adequate folic acid; discuss any iron supplementation with your doctor, as requirements vary.
Lupin Diagnostics Beta Thalassemia-9 Common Mutations Screening (Single) Test Price and Home Collection
The Beta Thalassemia-9 Common Mutations Screening (Single) test is available at Lupin Diagnostics starting at ₹9,600, with home collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 9600 |
| CHENNAI | 9600 |
| HYDERABAD | 9600 |
| KOLKATA | 9600 |
| NAVI MUMBAI | 9600 |
| PUNE | 9600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the Beta Thalassemia-9 Common Mutations Screening test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Home collection for this test is available across cities in India. Your blood sample is collected by a certified phlebotomist at your doorstep and processed in an NABL-accredited Lupin Diagnostics laboratory. Your digital report is accessible via email or WhatsApp once ready.
Frequently Asked Questions
This test examines your DNA for nine of the most frequently occurring mutations in the HBB gene, which is responsible for producing the beta-globin part of haemoglobin. It identifies whether you are a carrier, are affected, or show no mutation among the nine variants tested. The result helps guide clinical decisions, especially for family planning.
This test is suitable for individuals with a family history of thalassaemia, reproductive partners of known thalassaemia carriers, and those from communities with a higher incidence of the condition. Pre-marital and pre-conception Beta Thalassemia-9 Common Mutations Screening is also recommended as a general precaution.
No fasting is needed. This is a DNA-based genetic test and is unaffected by food, drink, or meal timing. You can eat and drink as normal before your sample is collected.
If both partners carry an HBB gene mutation, each of their children has a 25% chance of inheriting two mutated copies and developing beta-thalassaemia major. A genetic counsellor can explain your options, including prenatal diagnostic testing such as chorionic villus sampling.
Since the test analyses your DNA, the result does not change over your lifetime. It is generally a one-time test. Repeat testing is not needed unless there was a concern about sample quality at the time of collection.
Yes. The test requires only a routine blood draw and is safe at any stage of pregnancy. Ideally, it should be performed before conception or early in the first trimester, so that further options can be explored in time if both partners are found to be carriers.
Beta Thalassemia-9 Common Mutations Screening (Single) Test
