Beta Thalassemia-9 Common Mutations Screening (Couple) Test
About Beta Thalassemia-9 Common Mutations Screening (Couple) Test
| Field | Value |
|---|---|
| Also Known As | Beta Thal 9 Mutations (Couple), Beta-Thalassaemia Mutation Screening (Couple), HBB Gene 9 Mutations Panel (Couple) |
| Sample Type | Peripheral blood (EDTA vacutainer, approximately 2 mL from each partner) |
| Fasting Required | No fasting required |
| Report Time | 5 days |
| Recommended For | Couples of any age planning to have children, particularly those from high-risk communities or with a family history of thalassaemia |
| Price | Starting at ₹9,600 |
What is a Beta Thalassemia-9 Common Mutations Screening (Couple) Test?
The Beta Thalassemia-9 Common Mutations Screening test is a DNA-based blood test performed on both partners of a couple together. It checks whether either or both partners carry any of the nine most common mutations in the HBB gene (the beta-globin gene), which are responsible for beta thalassaemia in the Indian population. Also known as the Beta Thal 9 Mutations (Couple) test, it uses a small blood sample from each partner. Doctors typically recommend it for couples who are planning a pregnancy, especially those with a family history of thalassaemia or who belong to high-risk communities.
What Does a Beta Thalassemia-9 Common Mutations Screening (Couple) Test Measure?
This test analyses DNA from both partners to detect the presence or absence of nine specific mutations in the HBB gene. The following mutations are screened:
| Mutation | Type | What It Means |
|---|---|---|
| IVS 1-5 (G>C) | Reduced beta-globin output | Most common in India; causes a splicing error in the gene |
| 619 bp deletion | No beta-globin output | A large segment of the gene is deleted; common in Sindhi and Lohana communities |
| IVS 1-1 (G>T) | No beta-globin output | A splicing error that completely stops beta-globin production |
| Codon 41/42 (−TCTT) | No beta-globin output | Four DNA letters are deleted, producing a non-functional protein |
| Codon 8/9 (+G) | No beta-globin output | An extra DNA letter is inserted, disrupting the protein |
| Codon 15 (G>A) | No beta-globin output | Creates a premature stop signal in the gene |
| Codon 30 (G>C) | No beta-globin output | A single DNA letter change that disrupts the protein |
| Cap site +1 (A>C) | Mildly reduced output | Affects the start region of the gene, mildly reducing production |
| Codon 16 (−C) | No beta-globin output | Deletion of one DNA letter causing a reading error |
Together, these nine mutations account for the vast majority of beta thalassaemia cases seen in India.
Why is a Beta Thalassemia-9 Common Mutations Screening (Couple) Test Done?
This test helps couples understand their risk of passing a thalassaemia-related condition on to their children before or during a pregnancy.
Common Symptoms That May Require This Test
A doctor may suggest this test if either partner experiences any of the following:
- Unexplained tiredness or weakness that may suggest anaemia (low red blood cell levels)
- Pallor (pale skin or gums)
- Abnormal HPLC or haemoglobin electrophoresis results (lab tests that separate types of haemoglobin)
- Raised HbA2 levels on a routine blood test
- Unexplained microcytic anaemia (small red blood cells with low haemoglobin)
- Swelling of the abdomen, which may suggest an enlarged spleen or liver
Conditions This Test Can Help Detect
The test is used to assess risk for the following conditions:
- Beta thalassaemia carrier state (trait or minor): One copy of the mutated gene is present alongside a normal gene.
- Beta thalassaemia major risk: When both partners are carriers, each pregnancy carries a 25% chance of the child inheriting two mutated copies and developing the disease.
- Beta thalassaemia intermedia risk: Certain combinations of mutations can result in a condition of varying severity.
- Haemoglobinopathy (abnormal haemoglobin disorder) risk: Identifying the exact mutation guides genetic counselling and any future prenatal testing.
Beta Thalassemia-9 Common Mutations Screening (Couple) Test During Pregnancy
This Beta Thalassemia-9 Common Mutations Screening test is particularly relevant during pregnancy. Screening is ideally done before conception or in early pregnancy, with Indian national guidelines recommending antenatal testing between 10 and 12 weeks. If the mother is found to be a carrier, her partner should also be tested. When both partners carry a mutation, prenatal diagnosis (testing the foetus) can be offered to assess whether the baby is affected.
How to Prepare and What to Expect
No special preparation is needed for this test. Both partners simply need to provide a small blood sample.
Do You Need to Fast?
No fasting is required. You may eat and drink as normal before your appointment.
Practical Tips Before Your Test
Keep these points in mind before going for the Beta Thalassemia-9 Common Mutations Screening (Couple) test:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform your doctor if either partner has a known family history of thalassaemia or any other blood disorder.
- Mention all current medications or supplements being taken.
- If either partner has received a blood transfusion within the past three months, inform the laboratory, as donor DNA could theoretically affect analysis.
- Both partners should ideally provide their samples at the same time to allow efficient reporting.
Step-by-Step Procedure
Both partners go through the same straightforward blood collection process:
- A trained phlebotomist (the person who draws blood) cleans the skin on the inner elbow or back of the hand with an antiseptic solution.
- A fine needle is gently inserted into a vein to draw approximately 2 mL of blood from each partner.
- Each blood sample is collected into a lavender-topped EDTA vacutainer (a special tube containing an anti-clotting agent to preserve the sample).
- Samples are labelled separately and carefully for each partner to prevent any mix-up.
- The samples are refrigerated and sent to a molecular genetics laboratory for processing.
- In the laboratory, DNA is extracted from the blood and analysed using End Point PCR (a technique that copies specific DNA segments many times to detect mutations) to check for the nine targeted mutations.
Factors That Can Affect Accuracy
The following factors may influence the reliability of results:
- Incorrect blood-to-anticoagulant ratio in the EDTA tube
- Sample labelling errors or mix-up between partners
- Improper storage or transport temperature
- Recent blood transfusion within three months prior to testing (donor DNA may be present)
- Rare or novel HBB gene mutations not included in this nine-mutation panel will not be detected
Understanding Your Beta Thalassemia-9 Common Mutations Screening (Couple) Test Results
Results are reported as "mutation detected" or "no mutation detected" for each of the nine mutations, separately for each partner. The table below explains what different outcomes mean.
| Result | Interpretation |
|---|---|
| No mutation detected in either partner | Neither partner carries any of the 9 mutations tested; low risk of having a child with beta thalassaemia major from these mutations |
| Mutation detected in one partner only | That partner is a beta thalassaemia carrier; children have a 50% chance of being carriers but no risk of beta thalassaemia major |
| Mutation detected in both partners | Both are carriers; each pregnancy has a 25% chance of the child having beta thalassaemia major, a 50% chance of the child being a carrier, and a 25% chance of the child being unaffected |
| Homozygous or compound heterozygous mutations in one individual | May indicate beta thalassaemia major or intermedia depending on the specific combination of mutations present |
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.
How to Maintain Healthy Levels
Unlike many blood tests, this is a genetic test, so results reflect DNA and cannot be changed by diet or lifestyle. The following steps are still worthwhile:
- Couples identified as carriers should seek genetic counselling before or during a pregnancy to fully understand their options.
- Awareness of carrier status within families can prompt other at-risk relatives to get screened.
- Screening is especially encouraged in high-risk communities, given that beta thalassaemia affects approximately 3 to 4% of the Indian population.
Lupin Diagnostics Beta Thalassemia-9 Common Mutations Screening (Couple) Test Price and Home Collection
The Beta Thalassemia-9 Common Mutations Screening (Couple) test is priced starting at ₹9,600 at Lupin Diagnostics, and home sample collection is available for both partners.
| 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
The Beta Thalassemia-9 Common Mutations Screening test online booking process is quick and straightforward.
- Select the 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
Lupin Diagnostics offers home sample collection for this test across multiple cities, making it easy for both partners to provide samples without visiting a centre. All samples are processed in NABL-accredited laboratories by experienced molecular genetics teams. Digital reports are delivered securely via email or WhatsApp.
Frequently Asked Questions
This is a DNA-based blood test that checks both partners in a couple for the nine most common beta thalassaemia gene mutations found in India. The aim is to determine whether either or both partners are carriers, and to assess the risk of having a child with beta thalassaemia major.
This test is recommended for couples planning a pregnancy, particularly those with a family history of thalassaemia, those belonging to high-risk communities such as Sindhi, Lohana, or certain Muslim groups, or those where one partner has unexplained microcytic anaemia or raised HbA2 levels on a prior blood test. It is also advised for the partner of a known thalassaemia carrier.
No. There are no dietary or fasting requirements for the Beta Thalassemia-9 Common Mutations Screening test. Both partners can eat and drink normally before providing their samples.
If both partners carry a beta thalassaemia mutation, each pregnancy carries a 25% chance of the child having beta thalassaemia major. The couple should receive genetic counselling and may be offered prenatal diagnosis or preimplantation genetic testing (testing embryos during IVF) to guide family planning decisions.
No. This panel screens for nine of the most common mutations, which together account for over 90% of beta thalassaemia cases in India. Rare or novel mutations not included in the panel will not be detected. If clinical suspicion persists despite a negative result, full HBB gene sequencing may be recommended by your doctor.
Yes. The test requires only a simple blood draw from each partner. Risks are minimal and may include slight discomfort, mild bruising, or minor bleeding at the puncture site, all of which typically resolve quickly on their own.
Beta Thalassemia-9 Common Mutations Screening (Couple) Test
