Thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein that carries oxygen in the blood. It is caused by mutations in the genes that control the production of hemoglobin. This article will explain the main causes of thalassemia and how it is inherited.
What is Thalassemia?
Thalassemia is a group of genetic disorders that affect the production of hemoglobin, a protein found in red blood cells that is responsible for carrying oxygen to the body’s tissues. Hemoglobin is made up of four protein subunits, each of which contains a molecule of iron. Thalassemia occurs when a defect in the genes controls the production of one or more of these protein subunits.
There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Alpha thalassemia is caused by mutations in the genes that control the production of alpha globin, one of the protein subunits of hemoglobin. Beta thalassemia is caused by mutations in the genes that control the production of beta globin, another protein subunit of hemoglobin.
What Causes Thalassemia?
Thalassemia is caused by mutations in the genes that control the production of hemoglobin. These mutations can be inherited from one or both parents. If a person inherits two copies of the mutated gene, one from each parent, they will develop thalassemia.
There are many different mutations that can cause thalassemia. Some of the most common mutations that cause alpha thalassemia include the deletion of one or more alpha globin genes. Beta thalassemia is caused by a variety of mutations, including the deletion or mutation of the beta-globin gene.
Thalassemia is most common in people of Mediterranean, Middle Eastern, and Southeast Asian descent. However, it can occur in people of any race or ethnicity.
Inheritance of Thalassemia:
Thalassemia is an autosomal recessive genetic disorder. This means that it is caused by mutations in genes that are found on autosomal chromosomes, which are the non-sex chromosomes. In order to develop thalassemia, a person must inherit two copies of the mutated gene, one from each parent.
If both parents are carriers of the mutated gene but do not have thalassemia themselves, their children have a 25% chance of inheriting two copies of the mutated gene and developing thalassemia. They have a 50% chance of inheriting one copy of the mutated gene and becoming carriers like their parents and a 25% chance of inheriting two normal copies of the gene.
Symptoms of Thalassemia:
The symptoms of thalassemia can vary depending on the severity of the disorder. People with thalassemia may have mild or severe symptoms, or they may have no symptoms at all.
Some of the most common symptoms of thalassemia include:
- Fatigue and weakness
- Shortness of breath
- Pale skin
- Bone deformities
- Delayed growth and development
- Enlarged spleen
Treatment of Thalassemia:
The treatment of thalassemia depends on the severity of the disorder. Mild cases of thalassemia may not require any treatment, while severe cases may require regular blood transfusions.
Blood transfusions are used to replace the missing or defective hemoglobin in the blood. This can help to improve the symptoms of thalassemia and prevent complications. However, regular blood transfusions can also cause complications, such as iron overload