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

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.

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.

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

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

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

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.

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

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

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.

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

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

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

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.

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.