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HbE (Haemoglobin E) Mutation Screening (Prenatal) Test: Booking, Price, and Results

About HbE (Haemoglobin E) Mutation Screening (Prenatal) Test: Booking, Price, and Results

Field	Value
Also Known As	HbE Mutation Analysis, Haemoglobin E Mutation Screening, HbE Prenatal Testing, Beta-Globin Gene (Codon 26) Mutation Analysis
Sample Type	Chorionic Villus (CVS), Amniotic Fluid, Cord Blood, and Peripheral Blood
Fasting Required	No
Report Time	12 days
Recommended For	Pregnant women and their partners at risk of having a child with HbE-related haemoglobin disorders, particularly those from Northeast India, West Bengal, or with Southeast Asian ancestry
Price	Starting at ₹4,500

What Is a HbE (Haemoglobin E) Mutation Screening (Prenatal) Test?

The HbE (Haemoglobin E) mutation screening (prenatal) test identifies a specific genetic change in the beta-globin gene that causes the body to produce an abnormal form of haemoglobin, the protein in red blood cells that carries oxygen. This test is performed on foetal samples to determine whether an unborn child has inherited the HbE mutation from one or both parents. It is also known as HbE Prenatal Testing or Beta-Globin Gene (Codon 26) Mutation Analysis.

What Does a HbE (Haemoglobin E) Mutation Screening (Prenatal) Test Measure?

This test analyses foetal DNA to detect a point mutation at codon 26 of the HBB gene on chromosome 11. The table below explains what each result type indicates.

Result Type	What It Means
Not Detected (Negative)	The foetus has not inherited the HbE mutation
Heterozygous (Carrier)	One copy of the HbE mutation inherited; carrier status confirmed
Homozygous	Two copies of the HbE mutation inherited; HbE disease present

Because this is a genetic test, results are reported as the presence or absence of the mutation rather than as numerical values.

Why Is a HbE (Haemoglobin E) Mutation Screening (Prenatal) Test Done?

This test is recommended when there is a known or suspected risk of haemoglobin disorders in the family. It helps parents and their doctors make informed decisions about pregnancy management.

Common Symptoms That May Require This Test

The following factors or findings typically prompt a doctor to recommend this test:

Known carrier status in one or both parents for HbE or beta-thalassaemia
Family history of haemoglobin disorders or thalassaemia
A previous child born with HbE-beta-thalassaemia
Abnormal haemoglobin electrophoresis results in a parent
Unexplained anaemia (low red blood cell levels) in either parent
Northeast Indian, West Bengali, or Southeast Asian ancestry
Abnormal red cell indices found during routine blood tests in pregnancy

Conditions This Test Can Help Detect

The HbE mutation screening test can identify the following conditions in the foetus:

Haemoglobin E disease, a blood disorder caused by abnormal haemoglobin production
HbE-beta-thalassaemia, a severe combined condition causing variable to serious anaemia
Homozygous HbE state, which may cause mild anaemia and, in some cases, jaundice or an enlarged spleen

HbE (Haemoglobin E) Mutation Screening (Prenatal) Test During Pregnancy

This test is specifically designed for use during pregnancy. When both parents are confirmed carriers, prenatal diagnosis through foetal sampling allows families to understand the genetic status of the unborn child early in pregnancy. Chorionic villus sampling (CVS) is typically performed between weeks 11 and 14, while amniocentesis is carried out around weeks 15 to 20. Genetic counselling before and after the test is strongly recommended.

How to Prepare and What to Expect

The HbE prenatal test procedure involves collecting one or more foetal samples, depending on the stage of pregnancy. No special dietary preparation is needed.

Do You Need to Fast?

No fasting is required for this test. You may eat and drink normally before sample collection.

Practical Tips Before Your Test

Keep the following points in mind before attending your appointment:

Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
Both parents should complete carrier screening (blood test for HbE and beta-thalassaemia) before the prenatal test is performed
Parental mutations must be identified in advance; this process can take a week or more
Attend a genetic counselling session before undergoing the test to understand the procedure and its implications
Disclose any recent blood transfusions to your doctor, as this can affect results

Step-by-Step Procedure

This test can be done on multiple samples. The collection method depends on how far along the pregnancy is. Here is what to expect:

Peripheral Blood (Both Parents)

A blood sample is drawn from each parent's vein, usually from the inner arm.
The sample is collected in an EDTA tube and sent to the laboratory.
Parental DNA is analysed to confirm the specific mutations before foetal testing begins.

Foetal Sample (CVS, Amniotic Fluid, or Cord Blood)

Your obstetrician will decide which foetal sample to collect based on your gestational age: CVS is collected between weeks 10.5 and 13, amniotic fluid between weeks 15 and 16, and cord blood between weeks 18 and 19.
The procedure is performed under ultrasound guidance by a trained specialist to locate the correct site.
A small amount of chorionic villi, amniotic fluid, or cord blood is collected and placed in a sterile container.
The sample is stored at refrigerated temperatures (2 to 8 degrees Celsius) and dispatched to the laboratory promptly.
The laboratory extracts foetal DNA and analyses it for the HbE mutation using validated molecular techniques.
Your report is ready within 12 days of the laboratory receiving the sample.

Factors That Can Affect Accuracy

The following factors may affect the reliability of the test result:

A recent blood transfusion, which can alter haemoglobin-related findings
Maternal cell contamination of the foetal sample
Insufficient quantity or poor quality of chorionic villi or amniotic fluid
Failure to identify parental mutations before foetal testing
Co-inheritance of alpha-thalassaemia, which may alter haemoglobin percentage levels

Understanding Your HbE (Haemoglobin E) Mutation Screening (Prenatal) Test Results

Results from this test are interpreted alongside parental mutation data and your pregnancy history. A doctor or genetic counsellor will review your report in full context.

Result	Interpretation
Not Detected	No HbE mutation found; low risk for HbE-related disorders
Heterozygous (Carrier)	One copy of the HbE mutation is present; carrier, usually without symptoms
Homozygous HbE	Two copies present; HbE disease likely; mild to moderate anaemia possible
HbE with Beta-Thalassaemia	Combined condition; severity varies; haemoglobin levels may range from 3 to 11 g/dL

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 read:

A recent blood transfusion may temporarily influence haemoglobin-related measurements. If you have had a transfusion, inform your doctor before the test. Iron deficiency in an HbE carrier can reduce the measured proportion of HbE and lower red cell indices, which may affect interpretation.

How to Maintain Healthy Levels

Because this is a genetic test, the result itself cannot be changed by diet or lifestyle. However, the following steps support informed decision-making:

If both parents are carriers, speak with a genetic counsellor about family planning options before or after the test
Seek early prenatal diagnosis to allow adequate time for informed decision-making about pregnancy management
Maintain good overall health during pregnancy through regular antenatal check-ups and a balanced diet

Lupin Diagnostics HbE (Haemoglobin E) Mutation Screening (Prenatal) Test Price

The HbE mutation screening test cost starts at ₹4,500 at Lupin Diagnostics. This test requires a centre or clinic visit; home collection is not available due to the specialised nature of foetal sample collection.

City	Approximate Price (₹)
Mumbai	4500
Pune	6000
Bangalore	6000
Chennai	6000

Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

How to Book

Follow these steps to schedule your HbE prenatal test:

Select the test on the Lupin Diagnostics website.
Choose your city and preferred centre location.
Visit the centre at your scheduled time for sample collection.
Receive your report via email or WhatsApp within 12 days of sample receipt.

Frequently Asked Questions

The HbE (Haemoglobin E) mutation screening (prenatal) test checks whether an unborn child has inherited a specific mutation in the beta-globin gene that causes abnormal haemoglobin production. It is performed on foetal samples collected through CVS, amniocentesis, or cordocentesis, depending on the stage of pregnancy.

Couples where both partners are confirmed carriers of HbE or beta-thalassaemia are the primary candidates for this test. It is particularly relevant for families with a history of haemoglobin disorders and those from high-prevalence regions such as Assam, West Bengal, Odisha, and the Andaman and Nicobar Islands.

CVS is typically performed between weeks 11 and 14 of pregnancy. Amniocentesis is carried out between weeks 15 and 20, and cordocentesis between weeks 18 and 19. Your doctor will advise which method suits your gestational age and clinical situation.

CVS and amniocentesis are well-established prenatal procedures, but they are invasive and carry a small risk of complications. Your healthcare provider will explain the risks and benefits in full before the procedure so you can make an informed choice.

The report is delivered within 12 days of the laboratory receiving your sample. This timeframe accounts for foetal DNA extraction and molecular analysis, which requires specialised equipment and expertise.

A positive result can indicate carrier status (one copy of the mutation) or HbE disease (two copies). If the foetus also inherits a beta-thalassaemia mutation, it may develop HbE-beta-thalassaemia, a more serious condition. A genetic counsellor will help you understand the result and its implications.

A negative result means the foetus has not inherited the specific HbE mutation tested for. It significantly reduces the risk of HbE-related disorders. However, it does not rule out all possible haemoglobin conditions. Your doctor will review the result alongside parental carrier screening data and your full clinical picture.