Thalassemia is among the most common inherited disease on the globe. It’s affecting individuals originating from the area of Mediterranean, Central Asia, Middle east and Indian subcontinent. This disease need long term measures and prevention of homozygous state.
The thalassemiias are the chain of autosomal recessive disorder caused by reduction or absent production of globin chain. Addionally Thalassemia is caused by mutations of DNA of cells that is responsible for producing hemoglobin.
Hemoglobin is responsible for carrying oxygen throughout your body through blood cells. There are two types of Thalassemiias Alpha and Beta Thalassemiias.
These types of Thalassemia are catagorized by the type of Hemoglobin that carries blood to different part of the body i. e Alpha and Beta.
Either the Alpha or beta parts are not made there would cause insufficiency for building new blocks to make Hemoglobin level normalize. A patient with Low Alpha is called alpha Thalassemia and with Low beta called Beta Thalassemia.
Furthermore the Minor and Major words refers to how sever the patient is. The minor patient didn’t need regular blood transfusion but the major must need.
Depending upon your condition there are many symptoms of Thalassemia including Fatique, weakness, pale or yellow wish skin, facial bone deformities, slow growth and abdominal swelling. Babies usually show signs at birth others develop them during first two years.
There are many factors which can increase the risk of Thalassemia. The first and foremost risk is family history as it’s a inherited disease so it can passed through parents to children through mutated hemoglobin genes.
The second factor is certain ancestry. Thalassemia mostly occurs in African American and in Mediterranean and southern Asian descent.
There are serious complications for the thalassmic patient according to the severity. The less sever patients may faces Iron overload.
The amount of Iron exceed from the normal level in the body due to continuous blood transfusion. That could damage their hearts, livers, endocrine system and harmone producing glands.
People with Thalassemia also have an increased risk of infection, it’s really true if you have had spleen removed.
A Thalassmic patient with high severity faces bone deformities. Thalassemia make your bone marrow expand that causes to bones widen particularly the skull and face bones.
That leads to abnormal bone structure. It also make your bone brittle and thin.The second complications is Enlarged Spleen.
Spleen actually fight against infection within the body and filter out unwanted material like old and death cells. Thalassemia caused the destruction of red blood cells. Thus causes Spleen to perform harder then normal. Moreover slow growth rates and heart related problems may also associated with Thalasmic patient.
There is no prevention of Thalassemia as it’s a inherited disease. The thalassmic patient carry the Thalassemia genes. But there are guidance for Thalassemia.
There is a form of assisted reproductive technology diagnosis, which actually screens an embryo in its early stages for genetic mutations comprised with vitro fertilization. The method greatly help for the parents having Thalassemia or if they are Thalassemia genes carrier.
This procedure involves retrieving mature eggs and fertilizing them with sperm in dish in lab. The embryos are tested for the defective genes and only those without the genetic detects are implanted into the Uterus.
Author: Zakir Hussain from Baltistan