What is Thalassemia?
Thalassemia is an inherited blood disorder wherein the body produces an inadequate amount of haemoglobin. Haemoglobin is a protein molecule that carries oxygen in the red blood cells. This disorder causes the destruction of the red blood cells which leads to anaemia. Anaemia is a condition in which the haemoglobin or red blood cells are less than the normal count.
It is an inherited disease which is mainly caused due to abnormal haemoglobin synthesis. It is transferred by one of the parents who is a carrier of this disease due to either deletion of particular key gene fragments or a genetic mutation.
Mild thalassemia requires no treatment, but acute thalassemia might require regular blood transfusions.
Also Read: Genetic Disorder
Types of Thalassemia
There are two types of thalassemia:
- Alpha-thalassemia – A disorder in which one of the genes of alpha-globin has a mutation or abnormality.
- Beta-thalassemia – The genes of beta-globin are abnormal.
Causes of Thalassemia
It develops when there is some abnormality in any one of the genes that are involved in the production of haemoglobin and this defect is inherited from the parents. If any of the parents have thalassemia, the baby is more likely to develop this disease so-called thalassemia minor. If both the parents suffer from this disease, you are more likely to get the disease.
There are no symptoms at an early stage but are likely to be a disease carrier. It is the most common disease in people of Asia, Africa, the Middle East, Turkey, and Greece.
Symptoms of Thalassemia
Beta thalassemia occurs in two different forms namely thalassemia intermedia and thalassemia major.
Thalassemia symptoms appear generally before a child’s second year of age and severe anaemia concerned with this condition can be fatal. Some of the major signs of thalassemia major include:
- Poor appetite
This kind of thalassemia is so serious that it needs frequent blood transfusions. Thalassemia intermedia is a less serious kind of beta-thalassemia and do not require the patient to go through blood transfusions.
Beta-Thalassemia trait is found in individuals where there is only one HBB gene mutation in each cell possesses mild anaemia.
It consists of two major forms namely, Hydrops fetalis or Haemoglobin H disease.
Haemoglobin H can be responsible for bone complexities. The forehead, cheeks, and jaw may overgrow. Moreover, haemoglobin H can cause:
- An intensely enlarged spleen
Treatment for Thalassemia
The treatment depends on the type and severity of the disease. The doctor provides a course of treatment that suits best for a particular case.
Some of the treatments, which are opted for maximum cases include:
- Bone marrow transplant (BMT)
- Supplements and Medications
- Blood transfusions
Few precautions are prescribed by the doctors that include not taking supplements or vitamins and minerals containing iron. This is true when there is a need for blood transfusions. Patients who go through blood transfusions obtain extra iron which a body cannot lose.
If you are receiving a blood transfusion, you may need chelation therapy. It includes taking a chemical injection that combines with other heavy metals and iron. This helps eliminate extra iron from the body.
Prevention of Thalassemia
Thalassemia cannot be prevented since it is a genetically inherited disorder. However, these disorders can be detected during prenatal tests before birth. Also, genetic counselling helps to detect whether people have altered or missing haemoglobin genes that cause thalassemia.
Also Read: Mendelian Disorder
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