We know that this disease is caused by a genetic defect in the part of the DNA that is contained within the chromosome. This disease is called autosomal recessive, because both the mother and father have problems in the genes. Even if both mother and father have the problem, the chance of developing the disease is only 25%. Because according to Mendel's formula, division happens.
Why is it more likely to get thalassemia if close relatives get married?
Because in this disease, both the parents have to have problems in the chromosomes. And two have the same chromosomes as close blood relatives. Therefore, when married with close blood, chromosome abnormal sequence is more common. In this way, any synchronous abnormal sequence will lead to thalassemia.
The main problem of thalassemia is the tendency of red blood cells to break down. The cause of the breakdown is the formation of abnormal hemoglobin. We know that hemoglobin in red blood cells has two chains. Alpha and Beta. In this disease, the formation of a chain is stopped. Be it complete or incomplete. Almost all patients have problems making our beta chain. So they are called beta thalassemia.
Why do red blood cells break?
When two chains of normal cells are side by side. They then lie parallel and never come close to or touch the red cell wall due to mutual repulsion. When no single chain is formed. The other chain then becomes lonesome and hits the cell wall as it rotates. That shock (toxic effect) breaks this red blood cell. Which means that hemoglobin comes out of the cell.
What is the result?
Because thalassemia is a Hemolytic disease. Its features will be three amenia, jaundice and splenomegaly. The explanation is also very simple. Because RBC is broken, anemia, Hemoglobin of the broken cells will eat the Reticuloendothelial system of the spleen, and the filtration rate of the broken cells will increase a lot, which will be Splenomegaly. And the broken hemoglobin will be converted to bilirubin in the liver, which causes Jaundice.
Ways to diagnose?
Hemoglobin electrophoresis test can confirm the diagnosis. Also HB%, serum bilirubin test should be done.
treatment?
Since the blood loss is frequent, blood replacement is the primary treatment. Iron chelation, folic acid can also be given. And the final treatment is to change the raw material and company to make RBC. That is
