Beta Thalassemia - Beta Globin Full Gene Sequencing -PNDT - Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : There are no specific preparations needed for this test. However, it is important to inform the doctor about any medications or supplements being taken as they may interfere with the test results.

₹ 12000

Beta Thalassemia is a genetic blood disorder characterized by a reduction in the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with Beta Thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body, which can cause a variety of complications.

Beta Globin Full Gene Sequencing is an advanced genetic test that looks for mutations in the HBB gene, which provides instructions for making a component of hemoglobin called the beta-globin chain. Over 50 mutations can be identified through this sequencing, which is essential in diagnosing the various forms of Beta Thalassemia.

PNDT stands for Pre-Natal Diagnostic Techniques. This indicates that this particular test can be used to diagnose Beta Thalassemia in the fetus during pregnancy.

Test Name Beta Thalassemia - Beta Globin Full Gene Sequencing (> than 50 Mutations) - PNDT
Sample Type CVS/ Amniotic fluid/Cord Blood CVS/ Amniotic fluid/Cord Blood
Preparations Required There are no specific preparations needed for this test. However, it is important to inform the doctor about any medications or supplements being taken as they may interfere with the test results.
Report Time 7days
Price in Hyderabad ₹ 12000

What are the symptoms of Beta Thalassemia?

Symptoms include fatigue, weakness, pale skin, facial bone deformities, slow growth, abdominal swelling, and dark urine.

What are the different types of Beta Thalassemia?

There are three main types: Thalassemia Minor (or Thalassemia Trait), which is the mildest form; Thalassemia Intermedia, which is of moderate severity; and Thalassemia Major (or Cooley’s Anemia), which is the most severe form.

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How is Beta Thalassemia inherited?

Beta Thalassemia is inherited in an autosomal recessive pattern, meaning that the child must inherit two mutated genes, one from each parent, to have the disease. If only one mutated gene is inherited, the child will be a carrier.

How is Beta Thalassemia diagnosed?

It is diagnosed through blood tests, including a complete blood count (CBC) and hemoglobin electrophoresis, and genetic testing like Beta Globin Full Gene Sequencing.

What is the importance of detecting multiple mutations?

Detecting multiple mutations helps to ascertain the severity and type of Beta Thalassemia, which is vital for management and treatment planning.

Can Beta Thalassemia be cured?

There is no cure for Beta Thalassemia. However, treatments such as blood transfusions and iron chelation therapy can help manage the symptoms.

What is the purpose of prenatal testing for Beta Thalassemia?

Prenatal testing is done to determine whether the fetus has inherited Beta Thalassemia. This information can be critical for families with a history of the disease in making informed decisions regarding the pregnancy.

How is prenatal testing for Beta Thalassemia done?

Prenatal testing usually involves obtaining a sample of amniotic fluid or tissue from the placenta for Beta Globin Full Gene Sequencing.

Can Beta Thalassemia be prevented?

Beta Thalassemia cannot be prevented, but with genetic counseling, couples at risk can understand the chances of having a child with the condition.

What is the treatment for Beta Thalassemia?

Treatment depends on the severity and may include regular blood transfusions, iron chelation therapy, folic acid supplements, and in severe cases, a bone marrow transplant.

Is there any specific diet recommended for individuals with Beta Thalassemia?

Individuals with Beta Thalassemia should consult a doctor for specific dietary recommendations. Generally, a healthy diet with adequate nutrients is recommended.

How can Beta Thalassemia affect one’s lifestyle?

Beta Thalassemia can affect lifestyle in various ways including regular hospital visits for blood transfusions, daily medications, and limitations on physical activities.

What is iron chelation therapy?

Iron chelation therapy is used to remove excess iron from the body, which can build up as a result of regular blood transfusions.

Can people with Beta Thalassemia have a normal lifespan?

With proper management and care, individuals with Beta Thalassemia can have a near-normal lifespan. However, complications can arise, which need to be managed promptly.

Which doctor should be consulted in case of abnormal Beta Thalassemia test results?

If the test results are abnormal, it is advisable to consult a hematologist for expert advice and management.

Beta Thalassemia is a significant genetic disorder that requires careful management. Through advancements in genetic testing like Beta Globin Full Gene Sequencing, it is now possible to diagnose this condition accurately and even before birth. This information is critical for affected individuals and their families to plan for the necessary treatment and management to improve the quality of life.

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