Alpha Thalassemia Mutation Test: Everything you need to know

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Alpha Thalassemia Mutation Test: Everything you need to know

Alpha thalassemia is an inherited blood disorder. It suggests that the disease is passed down from the genes of the parents. Most commonly, Alpha thalassemia is found in India, Southeast Asia, Middle East, Southern China, and in the Mediterranean region. In the case of thalassemia, the victim's body generates comparably fewer levels of haemoglobin than average. Due to this reason, the blood-disorder is responsible for causing severe anaemia.

Well, this condition cannot be completely cured through medications or therapies. But by acquiring precise treatment, the patients will be able to maintain their health condition in a better manner. However, before attaining the treatment, you need to detect whether you have this rare blood-disease. And for that, the individuals require undergoing the alpha-thalassemia mutation testing. Through this clinical examination, the health practitioners analyze the genes of HBA1 and HBA2.

Who needs the test?

Mild to severe anaemia is present in most of the people but that does not mean that they all need to opt for the thalassemia mutation testing. The followings are the people who need to be tested-

- Individuals who develop the symptoms associated with alpha thalassemia
- Screening of carriers to identify the mutation
- Assessment of a thalassemia patient’s relative
- Pregnant mothers who are at the potential risks of delivering thalassemia genes

What is included in the thalassemia diagnosis procedure?

The test is mainly done to know whether you are a carrier and have the possibility of transferring this into your kids. The alpha thalassemia mutation test cost depends on the type of test you opt for and also upon the clinic where your tests are getting done. Chiefly, three tests are able to diagnose the blood disease within you. They include:

Haemoglobin electrophoresis along with F and A2 quantitation: Through this lab test, the experts analyse the type of haemoglobin present in your blood.

Complete blood count: Another test that helps in evaluating the disease is complete blood count. It is principally known in its abbreviation form CBC. This test finds out the mass, quantity, and maturity of the diverse blood cells in a specific amount of blood.

Free-erythrocyte protoporphyrin: Experts usually suggest this test to detect the iron-deficiency anaemia.

All these above-mentioned tests can be undertaken to avail of a single-blood sample. In the case of pregnant women, the babies in the wombs are diagnosed with the help of amniocentesis and CVS. In addition, A DNA analysis is also required for diagnosing alpha thalassemia.

The treatment of alpha thalassemia

On diagnosing the blood-disorder, your doctor would suggest the treatment based on your age, illness, overall health condition, and medical history. However, the treatment of patients includes:

- Adequate consumption of folic acid on a regular basis
- Transfusion of blood within frequent intervals
- The surgical procedure to abolish the spleen of the patients
- Iron chelation therapy where drugs are consumed to decrease the extra production of iron inside the body

People who have alpha thalassemia are mostly asymptomatic. Thus, it is pretty hard to diagnose the disorder. Thus, if you notice any slightest symptoms including loss of energy, anaemia, or exercise intolerance opt for the alpha thalassemia mutation test immediately.