What is thalassemia?

Thalassemia is an inherited blood disorder where the body makes an abnormal form of hemoglobin. Hemoglobin is the molecule in red blood cells that carries oxygen. The disorder results in the destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.

Types of Thalassemia

Some of the different types of Thalassemia are thalassemia minor. This is a less serious form of the disorder. There are two other main forms of thalassemia that are more serious. Alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.

Causes

Thalassemia occurs when there’s a mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. In this case you probably won’t have symptoms, but you’ll be a carrier of the disease. If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

Statistics

Thalassemia affects 4 out of every 10,000 births throughout the world. About 5% of the world population are known as silent carriers. However, particular ethnic groups are more likely to be affected and 5-30% of the population may be symptomatic among these groups. Both alpha- and beta-thalassemia are more common in tropical and subtropical regions of the world, particularly where malaria is or has been. For example, southern regions of Italy and Greece are the most likely areas to be affected in Europe and countries to the north of the continent of Africa.

Symptoms

Some common symptoms of thalassemia are bone deformities in the face, dark urine,delayed growth and development, tiredness and fatigue, and yellow or pale skin. Symptoms can vary depending on the severity of the disease.

How is it detected?

Thalassemia can be detected through a simple blood test. Usually they test the blood for anemia or abnormal hemoglobin. They can also do different tests such as hemoglobin electrophoresis or even a physical examination. But for unborn babies some test include Chorionic villus sampling, amniocentesis, or fetal blood sampling.

Treatment

The treatment for thalassemia depends on the severity and type of disease. Some of the treatments include: blood transfusions, bone marrow transplant, medications and supplements, or even possible surgery to remove the spleen or gallbladder

Cure?

Yes, some cures are bone marrow transplants but it is a risky procedure. Blood containing stem cells from the placenta or umbilical cord taken at the birth of a sibling may also be used as a cure for thalassaemia. Blood transfusions of stem cells to the baby during pregnancy have been tried, but has a low success rate.

Long term effects

Outlook depends on the type and how severe the disease is. The worst possible outcome from thalassemia is heart disease from iron overload. This is the leading cause of death in patients with thalassemia.

Sources

http://www.healthline.com/health/thalassemia?m=1#in-pregnancy7

https://my.clevelandclinic.org/health/articles/thalassemias

http://www.curethalassemia.org/thalpedia/cure-beta-thalassemia-major/