Thalassemia is an inherited blood disorder that is characterized by the production of poorly working or abnormal red blood cells. This occurs because of faulty genes that affect hemoglobin.
Hemoglobin is a type of protein that plays a crucial role in red blood cells. It not only delivers oxygen derived from the lungs to other cells in the body, it also brings carbon dioxide back to the lungs.
In thalassemia, either of the components that make up hemoglobin, alpha and beta, has mutated. So far, there are about nine genes that are associated with heme production.
What Happens If A Person Has Thalassemia?
How thalassemia can affect a person depends on how many genes are altered or missing.
For example, a person with alpha thalassemia, in which the alpha globin protein is affected, may show no signs or symptoms if only one of the four genes is missing. Anemia, which is a hallmark for the blood disorder, is considered mild if two alpha globin protein genes are missing. Babies who do not have any of the four genes do not survive very long.
On the other hand, since only two genes are associated with beta thalassemia, a person who has both of the genes altered may develop moderate or severe anemia. However, it may take at least six months after the baby is born before he or she shows signs and symptoms.
What Are The Symptoms?
Some of the most common symptoms of thalassemia include:
• Weakness or fatigue
• Shortness of breath
• Abdominal swelling
• Bone deformities
• Stunted or slow growth
• Jaundice (yellowing of the skin and eyes)
What Are The Treatments?
While there is no known cure for thalassemia, there are many approaches to manage the disorder.
Mothers-to-be can already undergo antenatal screening or pre-implantation genetic diagnosis (PGD), which may detect thalassemia even before the fertilized egg is implanted in the uterus.
If a baby or an adult is suspected to have thalassemia, the condition may be confirmed through blood tests. When viewed under a microscope, the red blood cells may appear abnormal or small.
When it comes to treatment, there are two general options depending on the type of thalassemia. Since people with beta thalassemia are at risk of iron overload that may lead to organ damage, chelation therapy and iron-binding medications are recommended.
Blood transfusions are also necessary for those with moderate to severe thalassemia, particularly if they are currently injured or are pregnant. The procedure may be performed at least every two weeks in a hospital setting.
Although still in the experimental stage, stem cell therapy may also be helpful for those with beta thalassemia.