Beta Thalassemia - Beta Globin Full Gene Sequencing (> than 50 Mutations) - Blood

It’s inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations for the condition to be fully expressed.

This sequencing helps to accurately diagnose Beta Thalassemia by identifying mutations in the HBB gene, which is crucial for the production of hemoglobin. Identifying specific mutations helps in predicting the severity and planning the appropriate treatment.

A blood sample is drawn from a vein in your arm. This sample is then sent to a laboratory where DNA is extracted and the HBB gene is sequenced to identify mutations.

There is no cure for Beta Thalassemia. The treatment focuses on managing symptoms and might include blood transfusions, medications, and in some cases, a bone marrow transplant.

Carriers, often known as thalassemia minor, usually do not have symptoms but it's important for them to know their carrier status especially if their partner is also a carrier.

After the initial diagnosis, regular follow-ups and tests are necessary for managing the condition. The frequency of these tests should be determined by your doctor.

Potential complications include iron overload, bone deformities, cardiovascular illness, and increased susceptibility to infections.

In Beta Thalassemia, mutations in the HBB gene result in reduced or absent production of beta chains, which are essential for the formation of hemoglobin. This leads to decreased hemoglobin levels and anemia.

There are mainly three types: Thalassemia Major (or Cooley's anemia), Thalassemia Intermedia, and Thalassemia Minor. The major form is the most severe.

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.

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. This information is critical for affected individuals and their families to plan for the necessary treatment and management to improve the quality of life.