Thalassemia skin symptoms, causes and treatment, how to prevent thalassemia


Thalassemia is a special blood disorder and this disease is hereditary. Usually, the production of proteins is reduced due to genetic defects. Thalassemia disease occurs because the production of hemoglobin in the body is not normal.

Thalassemia skin symptoms, causes and treatment, how to prevent thalassemia

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What is Thalassemia:  The term 'Thalassemia' was first used in 1930. Thalassemia is a combination of Greek word 'Thalassa' and English word 'aemia'. 'Thalassa' means Mediterranean and aemia means 'anemia'. Thalassemia was first discovered in countries around the Mediterranean Sea, so it was named Thalassemia. In addition to the Mediterranean, thalassemia is also prevalent in Africa and South and Southeast Asian countries.

Cause:  Thalassemia is caused by a defective hemoglobin gene. A defective hemoglobin gene causes a defect in the globin portion of hemoglobin. As a result, the lifespan of red blood cells decreases from the normal 120 days to only 20-60 days. Anemia occurs due to the breakdown of immature red blood cells.

If either the father or the mother, or both parents, have the thalassemia gene, it is passed on to the child through heredity. If both parents are thalassemia carriers, the child has a 25% chance of being born with thalassemia, a 50% chance of a carrier child and a 25% chance of a healthy child.

If there is a marriage between brothers and sisters (cousins, cousins, uncles, fufatos) and if someone in the family has thalassemia, the risk of the child being affected or a carrier of thalassemia is greatly increased.

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Types:  Thalassemia is mainly of 2 types. namely - alpha and beta thalassemia. Alpha thalassemia is caused by a defect in the gene producing a defective alpha globin chain on chromosome 16 and beta thalassemia is caused by a defect in the gene producing a defective beta globin chain on chromosome 11.

Alpha thalassemia can be of 2 types namely alpha thalassemia major (hydrops fetalis) and alpha thalassemia minor (hemoglobin-H disease/alpha thalassemia trait). Whereas the first one is much more serious. Beta thalassemia can similarly be of 2 types, beta thalassemia major (Culey's anemia) and beta thalassemia minor (trait).

In this case too, the first is more serious. Thalassemia may coexist with various hemoglobinopathies. Among them, hemoglobin-E beta thalassemia is mainly found in our country. Beta thalassemia is generally more severe and fatal than alpha thalassemia.

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Symptoms:  In case of beta thalassemia symptoms appear between 2-3 years of birth. At first the feeling of lethargy, weakness, shortness of breath, pale face, discomfort etc. are observed. Spleen enlargement, excess iron accumulation in the body, infections, abnormal bones, jaundice, dark colored urine, facial bone deformities, slow growth, heart problems etc. are manifested.

Treatment:  Thalassemia minor (trait) usually does not require any treatment. However, regular blood transfusion is the main treatment for thalassemia major. However, a major disadvantage of repeated blood transfusions is the accumulation of excess iron in various organs, including the liver. Iron chelation therapy and the practice of drinking tea after meals are encouraged to prevent such complications. Bone marrow transplantation is an effective modern treatment for thalassemia but is costly. Sometimes, if the spleen becomes too large, surgical removal of the spleen may be necessary.

Prevention:  Premarital blood testing for prevention of thalassemia should be encouraged and marriage between carriers should be discouraged. Thalassemia carriers can be identified by CBC and hemoglobin electrophoresis. Fetal blood sampling, amniocentesis, chorionic villus sampling etc. can be done to find out whether the fetus is suffering from thalassemia. But these tests should be done at 16-18 weeks of pregnancy. 'World Thalassemia Day' is observed on May 8 every year to create awareness about Thalassemia. Only our collective initiative and awareness can prevent Thalassemia.

How does this infection happen and what happens as a result of this infection-

* If none of the parents are carriers of thalassemia, then there is no chance of the child having thalassemia. 
* If either father or mother is a thalassemia carrier, then there is a 50% chance of the child (boys, girls equally) to be a thalassemia carrier.
* If both father and mother are thalassemia carriers, there is a 25% chance of the child being born with thalassemia, a 50% chance of being a thalassemia carrier and the remaining 25% chance of being born as a healthy child.

Thalassemia carriers and thalassemia sufferers are completely different.
A thalassemia carrier is completely healthy, except that he carries the thalassemia gene in his body. The burden of thalassemia disease can be greatly reduced if the marriage between two thalassemia carriers can be stopped by early detection of thalassemia carriers.        

The number of carriers of thalassemia disease is not less in our country. No matter how many Thalassemia-Days are observed, the awareness about this disease is not as expected.

The problem arises when parents are counseled after being identified as carriers.
After explaining everything, when it is said that before marriage, the hemoglobin electrophoresis of the boy or girl must be done to find out if the boy or girl is a carrier of this disease! Because if both are carriers their children may have thalassemia.

Think about it! How possible is it in the context of our country? When it is time for a carrier girl to marry, the bridegroom will be told that he needs to undergo this test to know if he is also a carrier. What will be the situation? Before understanding anything, the girl is sick! It says how many slander will break the marriage, and how much more! Fearing this, parents will keep the matter a secret and as a result the number of diseases will continue to increase. The same is the case with the son. 

No matter how educated we claim to be, even today superstitions and dogmas are prevalent among us in many respects. So no matter how easy we doctors make counseling, it is actually not that simple. This requires support from the government. If the government made it mandatory by law that every boy and girl should undergo hemoglobin electrophoresis before marriage, it would be much easier. People will know that being a carrier of thalassemia does not mean the disease. He is completely healthy. If only 2 carriers get married, their children can get thalassemia disease. And if people know what problems can happen if any of the children have this disease, they can be careful.

For this purpose, apart from making laws, hemoglobin electrophoresis test equipment should be ensured in the district. Nothing is impossible if you want, which is a big proof of the government's high program - just need concerted awareness and initiative.

Finally: Prevention of Thalassemia: Need for proper program, essential for prevention of Thalassemia, Thalassemia

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