Home Genetic Tests Clinical Genomics Beta-Thalassemia Screening
Clinical · Haematology
HBB Gene · Sanger Sequencing

Beta-Thalassemia Screening

Know Your Carrier Status. Protect Your Family's Future.

Beta-Thalassemia is one of the most prevalent inherited blood disorders in India — particularly affecting people of South Asian, Mediterranean, Middle Eastern, and African descent. With 80–90 million carriers worldwide and 68,000 affected children born every year, knowing your carrier status before having children is one of the most impactful preventive decisions you can make. This Sanger sequencing test analyzes the HBB gene to detect mutations causing Beta-Thalassemia and determine whether you are a carrier, affected, or clear.

★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood + Saliva
Turnaround
3–4 weeks
Gene analyzed
HBB gene
Technology
Sanger Sequencing
Beta-Thalassemia HBB Gene Test
Three types of Beta-Thalassemia
Severe
Thalassemia Major
Cooley's Anemia
Both copies of HBB gene mutated. Requires regular blood transfusions starting in infancy. Lifelong management needed.
Moderate
Thalassemia Intermedia
Milder symptoms — may not need regular transfusions but faces complications over time. Variable severity.
Carrier
Thalassemia Minor
Thalassemia Trait
One mutated copy — generally asymptomatic or mild anemia. Carrier can pass trait to children if partner is also a carrier.
What you'll discover

Carrier status

Whether you carry one (minor/trait) or two (major/intermedia) copies of HBB gene mutations

HBB gene analysis

Family planning guidance

If both partners are carriers, each child has a 25% chance of Beta-Thalassemia Major — critical for family decisions

Reproductive risk

Pre-marital screening

Ideal for pre-marital or preconception screening — identify carrier status before starting a family

Preventive screening

Prenatal planning

If both parents are carriers, options include PGD during IVF, prenatal diagnosis, or adoption

IVF guidance

Anemia assessment

Understand if mild anemia symptoms are related to thalassemia trait or other causes

Symptom explanation

Treatment guidance

For affected individuals — guidance on transfusion schedule, iron chelation therapy, and monitoring

Management plan
How it works
1

Order online

Place your order. Home collection kit ships within 24 hours — EDTA blood collection tube and saliva swab included.

2

Blood + Saliva sample collection

2ml EDTA blood + saliva swab at home using the kit provided. Return using prepaid courier label included.

3

HBB gene Sanger sequencing

HBB gene analyzed by Sanger sequencing in our NABL & CAP accredited lab — detecting all known Beta-Thalassemia-causing mutations with high accuracy.

4

Detailed report + consultation

Comprehensive Beta-Thalassemia carrier report in 3–4 weeks — showing carrier status, mutation identified (if any), and personalized family planning and management recommendations.

Sample report preview

Your Beta-Thalassemia Report

A snapshot of your HBB gene carrier screening report

Carrier Status
Carrier
Thalassemia Minor/Trait
HBB Mutation
IVS1-5
Common Indian mutation
Zygosity
Heterozygous
One copy detected
Child Risk
25%
If partner also carrier
Carrier / Affected / Clear status
HBB mutation identified
Zygosity (hetero/homozygous)
Child risk calculation
Family planning guidance
Clinician-ready report
Frequently asked questions
Who should consider Beta-Thalassemia screening?
Beta-Thalassemia screening is strongly recommended for anyone of South Asian (including Indian, Pakistani, Sri Lankan, Bangladeshi), Mediterranean, Middle Eastern, or African descent — all high-prevalence populations. Testing is particularly important for couples planning to have children, individuals with unexplained mild anemia, families with a known history of thalassemia, and as part of pre-marital screening programs.
What happens if both partners are carriers?
If both partners are Beta-Thalassemia carriers (Thalassemia Minor), each pregnancy has a 25% chance of having a child with Thalassemia Major, a 50% chance of having a carrier child, and a 25% chance of having a completely unaffected child. Couples in this situation have several reproductive options: preimplantation genetic diagnosis (PGD) during IVF, prenatal diagnosis (amniocentesis or CVS), natural conception with prenatal testing, or adoption. Our Genomic Expert and genetic counselors can help you navigate these options.
What is the difference between being a carrier and being affected?
A carrier (Thalassemia Minor/Trait) has one mutated copy of the HBB gene — they are generally healthy with possibly mild anemia and are unaware of their carrier status. Being affected (Thalassemia Major or Intermedia) means inheriting two mutated copies — one from each parent — resulting in significant anemia and medical complications. Carriers themselves rarely need treatment but can pass the condition to their children if their partner is also a carrier.
How is Beta-Thalassemia treated?
Carriers (Thalassemia Minor) generally need no treatment but should avoid unnecessary iron supplements. For Thalassemia Major, treatment includes regular blood transfusions (typically every 2–4 weeks), iron chelation therapy to prevent iron overload, and folic acid supplementation. In some cases, bone marrow or stem cell transplantation offers a potential cure. For Thalassemia Intermedia, treatment depends on severity and may involve occasional transfusions and monitoring.
Is my data safe?
Yes. All genetic data is protected under ISO 27001, HIPAA, and GDPR standards. Never shared with insurance companies, employers, or third parties without your explicit consent. You retain full ownership of your information.
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🧬 Clinical Genomics · Haematology
₹9,000
  • HBB gene full mutation analysis
  • Carrier / Affected / Clear status
  • All common Indian HBB mutations covered
  • Zygosity analysis (hetero/homozygous)
  • NABL & CAP accredited lab
  • Family planning guidance included
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3–4 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
After results, our Genomic Expert can guide family planning decisions and connect you with haematology specialists if needed.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

Sanger Sequencing

HBB gene analysis

Family Planning

Carrier risk guidance

ISO 27001

Data security

100% Private

GDPR compliant

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