Beta Thalassemia-HBB Full Gene Analysis (Single) Test
About Beta Thalassemia-HBB Full Gene Analysis (Single) Test
| Field | Value |
|---|---|
| Also Known As | HBB Full Gene Sequencing, Beta-Globin Gene Sequencing, β-Thalassaemia HBB Gene Analysis |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 20 days |
| Recommended For | All ages, males and females; especially those of South Asian, Mediterranean, Middle Eastern, or Southeast Asian ancestry |
| Price | Starting at ₹6,000 |
What is a Beta Thalassemia-HBB Full Gene Analysis (Single) Test?
The Beta Thalassemia-HBB Full Gene Analysis (Single) test examines the HBB gene, which carries the instructions for producing beta-globin, a key building block of haemoglobin. Haemoglobin is the protein in red blood cells that carries oxygen through the body. This test is prescribed when a doctor suspects beta thalassaemia based on symptoms or abnormal blood results. It uses a small sample of peripheral blood, collected in an EDTA tube.
What Does a Beta Thalassemia-HBB Full Gene Analysis (Single) Test Measure?
This test analyses the full coding sequence of the HBB gene, including the regions around each coding segment that control how the gene works. The following table summarises what the test looks for.
| What is Analysed | What it Tells Us |
|---|---|
| Beta-plus (β+) mutations | Reduced production of beta-globin protein |
| Beta-zero (β0) mutations | Complete absence of beta-globin production |
| Hyper-unstable and dominant variants | Rare mutations causing significant haemoglobin dysfunction |
| Other haemoglobin variants (HbS, HbE, HbC, HbD) | Identifies co-existing haemoglobin disorders |
| Carrier status | Confirms whether one or two copies of a mutation are present |
The test covers all coding regions of the HBB gene plus the flanking splice site sequences, providing coverage of the most clinically relevant areas.
Why is a Beta Thalassemia-HBB Full Gene Analysis (Single) Test Done?
Doctors order this test for several reasons, from confirming a diagnosis to screening family members who may carry a genetic mutation without knowing it.
Common Symptoms That May Require This Test
The following symptoms may lead a doctor to request a Beta Thalassemia-HBB Full Gene Analysis test:
- Pallor (pale skin) caused by severe anaemia
- Poor weight gain or stunted growth, particularly in children
- Mild jaundice (yellowish tint to skin or eyes)
- Enlarged liver or spleen (hepatosplenomegaly)
- Recurrent fevers or infections
- Feeding problems and irritability in infants
- Persistent fatigue and weakness
Conditions This Test Can Help Detect
This HBB Full Gene Sequencing test helps identify the following conditions:
- Beta thalassaemia major (also called Cooley's anaemia), the most severe form
- Beta thalassaemia intermedia, which causes moderate symptoms
- Beta thalassaemia minor or trait, which often causes no symptoms
- Combined disorders such as HbE/beta thalassaemia or HbS/beta thalassaemia (sickle-beta thalassaemia)
Beta Thalassemia-HBB Full Gene Analysis (Single) Test During Pregnancy
Carrier screening for beta thalassaemia is recommended for all individuals who are pregnant or planning a pregnancy. In India, early screening of pregnant women followed by genetic counselling is a recognised approach to managing the condition in families. This test helps assess whether a parent carries an HBB gene mutation, which is an important first step before considering prenatal diagnosis of the baby.
How to Prepare and What to Expect
No complex preparation is needed for this test. The steps below will help you know what to bring and what happens during sample collection.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally on the day of collection.
Practical Tips Before Your Test
Keep the following points in mind before you arrive for sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results (particularly any HPLC report), and family history, as this is required for the test
- Inform the laboratory if you have received a blood transfusion in the past three months, as this may affect results
- Inform the laboratory if you have received gene therapy, as this can affect how results are interpreted
- Wear a short-sleeved or loose-sleeved top for easy access to the arm vein
- Stay well hydrated, as this makes blood collection easier
Step-by-Step Procedure
Here is what happens during the Beta Thalassemia-HBB Full Gene Analysis test procedure:
- A trained phlebotomist (blood collection professional) will clean the skin over a vein in your arm with an antiseptic wipe.
- A small blood sample of approximately 2 ml is drawn using a sterile needle and collected into a lavender-top EDTA tube.
- The tube is labelled and stored at 2 to 8 degrees Celsius for safe transport to the laboratory.
- In the laboratory, DNA is extracted from your white blood cells, and the HBB gene is amplified using a process called PCR (polymerase chain reaction).
- The amplified gene is then sequenced in both directions using Sanger sequencing, a highly accurate method for reading the DNA code.
- Trained scientists analyse the sequence for mutations and prepare an interpretive report for your doctor.
Factors That Can Affect Accuracy
The following factors may influence test results or their interpretation:
- Recent blood transfusions (within the past three months) can dilute or alter the DNA sample
- Concurrent iron deficiency may mask certain findings on preliminary blood tests
- Improper collection ratios between blood and the anticoagulant in the EDTA tube
- Inadequate sample storage or transport temperature
- Conditions such as vitamin B12 or folate deficiency, hyperthyroidism, or antiretroviral therapy, which can affect supporting haemoglobin markers
Understanding Your Beta Thalassemia-HBB Full Gene Analysis (Single) Test Results
This is a qualitative genetic test, meaning results are reported as descriptive categories rather than numerical values. Your doctor or a genetic counsellor will review the findings alongside your clinical history and any previous blood test results.
| Result Category | What it Means |
|---|---|
| No pathogenic variant detected | No HBB mutations found in the regions analysed |
| Heterozygous pathogenic variant | Carrier status (beta thalassaemia trait or minor) |
| Homozygous or compound heterozygous variants | Affected individual (beta thalassaemia major or intermedia) |
| Variant of uncertain significance (VUS) | Requires further clinical assessment |
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 situations can affect how results are interpreted. Your doctor will take these into account.
If iron deficiency is present alongside beta thalassaemia trait, the HbA2 level on a preliminary haemoglobin electrophoresis test may appear normal, potentially masking the condition. Medications such as antiretroviral drugs, or deficiencies of vitamin B12 or folate, and hyperthyroidism may also alter supporting haemoglobin markers used alongside this test.
How to Maintain Healthy Levels
Because beta thalassaemia is an inherited genetic condition, lifestyle changes cannot alter the gene itself. The following steps are relevant for those identified through testing:
- Individuals confirmed as carriers are encouraged to inform close family members, who may also wish to consider testing
- Couples who are both found to be carriers should seek genetic counselling before planning a pregnancy, to understand the risks fully
- A balanced diet supporting general health is beneficial for all individuals, regardless of carrier status
Lupin Diagnostics Beta Thalassemia-HBB Full Gene Analysis (Single) Test Price and Home Collection
The Beta Thalassemia-HBB Full Gene Analysis (Single) test cost starts at ₹6,000 at Lupin Diagnostics, and home collection is available across cities. The sample is processed in NABL-accredited laboratories using Sanger sequencing technology.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 6000 |
| CHENNAI | 6000 |
| HYDERABAD | 6000 |
| KOLKATA | 6000 |
| NAVI MUMBAI | 6000 |
| PUNE | 6000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your Beta Thalassemia-HBB Full Gene Analysis test online is 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 collection for this test across major cities in India. All samples are processed in NABL-accredited laboratories, ensuring quality at every step. Your digital report is delivered securely via email or WhatsApp once ready.
Frequently Asked Questions
A targeted mutation test checks only for specific, commonly known HBB mutations. The Beta Thalassemia-HBB Full Gene Analysis test reads the entire coding sequence of the HBB gene, so it can detect both common and rare mutations. This makes it more thorough and suitable when a diagnosis has not been confirmed by other methods.
This test is suitable for individuals with symptoms of beta thalassaemia, those with abnormal haemoglobin electrophoresis or HPLC results, family members of confirmed carriers, and couples planning a pregnancy who belong to high-risk populations such as South Asian, Mediterranean, or Middle Eastern communities.
Yes, carrier screening during pregnancy is recommended. This particular test checks the carrier status of the individual being tested, not the foetus. If both parents are carriers and prenatal diagnosis of the baby is needed, a different type of test using foetal samples is required. Your doctor will guide you on the appropriate next steps.
Being a carrier of beta thalassaemia generally does not cause serious health problems. Most carriers lead completely normal lives. However, if your partner is also a carrier, there is a 25% chance with each pregnancy that the child may inherit two mutated copies of the gene and be affected. Genetic counselling is recommended in such cases.
The test has a sensitivity of over 99% for detecting nucleotide changes, small deletions, and insertions within the analysed regions. However, large deletions or structural rearrangements within the gene may not be detected by sequencing alone and may require an additional test called MLPA.
No fasting is needed. You can eat and drink as usual before giving your blood sample. The test requires only a small blood sample collected in a standard EDTA tube.
The report is typically available within 20 days of sample collection. Complex cases or those requiring additional analysis may take longer. Your doctor will receive the report along with an interpretive summary prepared by the laboratory.
Beta Thalassemia-HBB Full Gene Analysis (Single) Test
