Beta Thalassemia (23 Mutations)

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    blood sample




    Age group

    Above 10 years

    Beta-thalassemia is an inherited blood disorder that is passed down from one or both parents. This condition decreases the production of haemoglobin in the body.

    Haemoglobin is found in red blood cells and helps carry oxygen to cells throughout the body. People diagnosed with Beta-thalassemia have low levels of haemoglobin, which causes a lack of oxygen in the body. They also have a shortage of red blood cells, which can lead to fatigue, anaemia, and pale skin. Such people are at a higher risk of forming abnormal blood clots.

    The treatment for this disorder includes regular blood transfusions, chelation therapy, and stem cell transplant. Regular testing can allow the patients to access the treatment at the earliest.

    People with thalassemia often get more than an adequate supply of iron in their bodies due to blood transfusions or the disease itself. This can cause serious damage to the heart, liver, and the endocrine system, such as glands producing regulatory hormones.

    The test consists of a complete blood count (CBC) analysis. This blood test measures haemoglobin and the quantity and size of the RBCs. People with beta-thalassemia generally have smaller-than-usual RBCs.

    Along with the CBC, the test includes a reticulocyte count to detect whether your bone marrow is producing sufficient RBCs. Haemoglobin electrophoresis is also used to diagnose beta-thalassemia.

    Though symptoms may vary for different people, children can generally develop life-threatening anaemia. They can also experience decreased weight gain and delayed body growth and may develop yellowing of the skin, also known as jaundice.

    When Should You Get Tested?

    If either or both the parents have contracted the disorder, it most definitely will be passed down to the child. Moderate and severe beta-thalassemia is usually detected in early childhood within the first two years of life. A blood test can help confirm the diagnosis. If you observe symptoms like bone abnormalities, or an enlarged belly or spleen, you must undergo the test immediately.

    faqFrequently Asked Questions (FAQs)

    Frequently asked questions

    The Beta-Thalassemia (23 Mutations) test is conducted by examining your blood sample. Your doctor might collect the sample by injecting a syringe into your arm vein. They will send it to the laboratory for examination. The healthcare professionals will focus on the number, size, and maturity of the blood cells in the sample to confirm Beta-Thalassemia.
    Yes, the Beta-Thalassemia (23 Mutations) test is harmless and simple. But, you might experience minor bruising or bleeding while the doctor collects your blood sample. The pain usually fades away within a few minutes.
    In Beta thalassemia major, the patient might suffer from two damaged genes. Being the most severe form of Beta thalassemia major, people would require frequent blood transfusions for proper treatment. Moreover, they might suffer from complications like tiredness, shortness of breath, pale skin, and a change in facial bone shape. The Beta-Thalassemia (23 Mutations) test might help doctors in identifying and addressing the complications.
    Beta-Thalassemia is a genetic disorder that is usually inherited from parents. So, having a family history of the disorder is a major risk factor for developing the disease. In addition, Beta thalassemia is also observed in people who are of Italian, African, Asian, or Greek origin. That's why early diagnosis of the disease can prevent the condition from worsening.
    There are no specific preparation strategies for Beta-Thalassemia (23 Mutations) test. However, you must discuss your health conditions, currently prescribed medications, and medical history. If someone in your family has suffered from Beta-Thalassemia, inform your doctor. It will help the doctor understand the likelihood of you developing the ailment.

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    The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results