What is Thalassemia: As the saying goes, having a body will be bad. But outside where the weather is adding dust, it doesn’t matter if the body deteriorates. We probably try to highlight common problems on our website. So that you can know about first aid. Today’s report is going to be about that. Let’s begin.
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Thalassemia is an autosomal recessive genetic disorder. It occurs when there is a defect in the production of hemoglobin particles that transport oxygen in the blood. People with thalassemia usually suffer from anemia, which can cause symptoms ranging from fatigue to organ failure. (What is Thalassemia)
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. Two proteins are involved in the formation of hemoglobin, namely alpha protein and beta protein. The type of thalassemia depends on the presence of these two proteins. Alpha thalassemia means a deficiency of alpha Hemoglobin in the body, and beta thalassemia means a deficiency of beta hemoglobin in the body.
Symptoms of Thalassemia:
> Fatigue
> Weakness
> Brittle bones
Loss of appetite
> Pale or yellow skin
> Jaundice
> Bloating
> Dark urine
> Growth retardation in children
> Heart problems
Also Read: Feeling tired all day? Isn’t this a complicated problem?
Diagnosis
Some tests can be done before the baby is born to find out if the baby has Thalassemia
> Chorionic villus sampling test, a small part of the placenta is removed for evaluation, which is done in the 11th week of normal pregnancy.
> Amniocentesis, a sample of the amniotic fluid surrounding the fetus is taken, which is done in the 16th week of pregnancy.
> Also, a complete blood count and hemoglobin electrophoresis test.
Treatment
Supportive treatment:
- If the baby has Thalassemia major, anemia occurs from the age of six months. Then he needs to be given regular blood transfusions. Regular blood transfusions help the child grow physically, the spleen remains normal, and the bones do not deform. Some people need blood transfusions every month and some every two months.(What is Thalassemia)
- After a year of donating blood, the amount of iron in the patient’s body increases significantly. Then, iron chelating drugs are given to reduce iron from the body. Many parents of children have misconceptions about donating blood. They do not want to give blood to their children regularly, as a result of which the child may develop serious symptoms and even die prematurely.
- In addition, some drugs are used to increase hemoglobin. As a result, the level of hemoglobin and oxygen in the body may increase slightly. As a result, the severity of thalassemia decreases.
- Injection luspatercept is a newly discovered type of drug, which is available in developed countries. Its use reduces the need for blood transfusions.
Curative treatment:
Thalassemia patients are completely cured by using only bone marrow transplant or gene therapy. Later, blood transfusion is not required and the patient returns to normal life. This expensive treatment makes it possible to completely recover the patient.(What is Thalassemia)
This treatment is not yet widely used in our country. For bone marrow transplant, patient fitness, regular iron chelation, stem cell donor and financial solvency are essential.
Prevention of Thalassemia:
- Screening program should be started. Boys and girls should be brought under screening at the age of 25 to 35.
- Thalassemia test should be done before marriage. If you know whether you are a thalassemia carrier before marriage, you can take future plans. Because if both husband and wife are carriers, there is a risk of the child becoming a thalassemia patient.
- If both husband and wife are thalassemia carriers, then a prenatal DNA test should be done between 10 and 12 weeks of pregnancy. This test will tell whether they will be able to decide on having children in the future.(What is Thalassemia)
- Family marriages should be prevented.
- It is also important to make the public aware of thalassemia. It is not a contagious disease, but a congenital preventable disease. Therefore, if necessary, this subject can be included in school and college textbooks. The role of the media in this regard is immense.
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