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Beta Thalassemia Mutation Detection - Blood Test Price, Normal Range | Sprint Diagnostics Hyderabad

Beta Thalassemia is a genetic blood disorder characterized by a reduction in the production of hemoglobin, a protein that carries oxygen through the blood. In Beta Thalassemia, mutations in the HBB gene lead to decreased production of the beta-globin chain, a component of hemoglobin. This test specifically focuses on detecting the five most common mutations associated with Beta Thalassemia.

By diagnosing Beta Thalassemia early and accurately, appropriate treatments and interventions can be administered to manage symptoms and improve quality of life. In some cases, severe anemia can be life- threatening, so early detection and management are crucial.


  • Test Name Beta Thalassemia Mutation Detection - Blood (5 Common Mutations)
  • Sample Type Blood
  • Preparations Required No specific preparation is needed for this test. It's advisable to inform your doctor about any medication or supplements you are taking as they may interfere with the test results.
  • Report Time 6 days

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

Common symptoms include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, and an enlarged spleen.

Beta Thalassemia is inherited in an autosomal recessive manner, meaning that two mutated genes (one from each parent) are necessary for the full expression of the condition.

Detecting mutations is critical for diagnosing Beta Thalassemia, understanding its severity, and determining the appropriate treatment and management strategies.

A sample of blood is taken from the arm. This sample is analyzed in a laboratory to detect specific mutations in the HBB gene associated with Beta Thalassemia.

There is no complete cure for Beta Thalassemia. Management strategies include blood transfusions, iron chelation therapy, and in severe cases, a bone marrow transplant.

Genetic counseling and prenatal testing can help in making informed decisions regarding family planning, especially for couples who are carriers of Beta Thalassemia.

Complications may include iron overload, bone deformities, enlarged spleen, heart problems, and increased susceptibility to infections.

Individuals with Beta Thalassemia may require regular blood transfusions and medication, which can impact daily routines. Physical activities might also be limited.

This test focuses on the five most common mutations associated with Beta Thalassemia, which vary depending on the population and region.

Carriers usually do not develop the condition but can pass the mutation to their children. Knowing your carrier status is important, especially if planning to have children.

After initial diagnosis, regular monitoring as recommended by your doctor is essential for managing the condition effectively.

Treatment options include blood transfusions, iron chelation therapy, folic acid supplements, pain relievers, and possibly bone marrow transplantation.

Early diagnosis allows for the prompt initiation of treatment to manage symptoms and reduce the risk of complications.

You should consult a hematologist if you suspect you have Beta Thalassemia or if you have a family history of the condition.

There is no specific diet for Beta Thalassemia, but it's crucial to eat a balanced diet. In addition, individuals receiving blood transfusions need to be mindful of iron intake.

Beta Thalassemia is a serious genetic disorder that affects the blood's ability to transport oxygen. Through advancements in genetic testing such as Beta Thalassemia Mutation Detection, individuals can obtain diagnoses and understand their condition better. This test is particularly useful for expecting parents and individuals with a family history of Thalassemia. Management and treatment of Beta Thalassemia are critical in improving the patient's quality of life and minimizing complications.

BETA THALASSEMIA MUTATIONS BY PCR, EDTA WHOLE BLOOD
₹ 14300
Schedule Test in Your Available Time
Locations Near You in Hyderabad
  • 4KM from Madhapur
  • 3KM from Banjara Hills
  • 1.9KM from Yusufguda
  • 3KM from Madhura Nagar
  • 5KM from Shaikpet