Overview
Thalassemia, pronounced “thal-uh-SEE-me-uh,” is a genetic blood condition. It interferes with your body’s regular hemoglobin production. Red blood cells contain a protein called hemoglobin. It makes it possible for your red blood cells to carry oxygen throughout your body, feeding the other cells.
Your body makes fewer healthy hemoglobin proteins and your bone marrow makes fewer healthy red blood cells if you have thalassemia. Anemia is the condition in which the number of red blood cells is reduced. Because red blood cells are essential for carrying oxygen to your body’s tissues, a shortage of healthy red blood cells can deprive your body’s cells of the oxygen they require to produce energy and survive.
An genetic blood condition called thalassemia results in your body producing less hemoglobin than usual. Red blood cells may carry oxygen thanks to hemoglobin. Anemia from thalassemia can make you feel exhausted.
You may not require therapy if your thalassemia is minimal. However, more severe types may necessitate frequent blood transfusions. You can manage your weariness by making appropriate food choices and getting frequent exercise.
What signs of thalassemia are present?
Symptomless (asymptomatic)
If you have one alpha gene missing, you probably won’t experience any symptoms. You might not have any symptoms if you have one beta gene or two alpha genes missing. You could also have moderate signs of anemia, such as weariness.
mild to moderate symptoms
The symptoms of beta thalassemia intermedia can range from mild anemia to the following signs of more serious disease:
- issues with growth.
- delayed onset of puberty.
- anomalies of the bones, including osteoporosis.
- an enlarged spleen, which is an organ in the belly that helps fight infection.
Extreme symptoms
Anemia symptoms at birth and severe anemia throughout life are frequently caused by missing three alpha genes. By the age of two, severe anemia symptoms associated with beta thalassemia major, also known as Cooley’s anemia, are frequently apparent.
Reasons
Mutations in the DNA of the cells that produce hemoglobin, the material in red blood cells that transports oxygen throughout your body, are the cause of thalassemia. Children inherit the mutations linked to thalassemia from their parents.
Alpha and beta chains, which make up hemoglobin molecules, are susceptible to mutation. Alpha-thalassemia or beta-thalassemia are the two conditions that arise from thalassemia, which is characterized by decreased production of either the alpha or beta chains.
The amount of gene mutations you inherit from your parents determines how severe your alpha-thalassemia is. The severity of your thalassemia increases with the number of gene mutations.
The section of the hemoglobin molecule that is impacted determines how severe your beta-thalassemia is.
Making a diagnosis
For the first two years of their lives, the majority of children with moderate to severe thalassemia exhibit symptoms.
The quantity of red blood cells as well as any anomalies in their size, shape, or color can be determined by blood testing. DNA analysis can also be performed on blood tests to search for gene mutations.
Prenatal examination
A newborn can be tested before birth to see if they have thalassemia and to assess the severity of the condition.
sample of Chorionic villus
This test, which is often performed around week eleven of pregnancy, entails taking a small sample of the placenta for analysis.
amniocentesis. This test, which is often performed around week sixteen of pregnancy, looks at a sample of the fluid surrounding the fetus.
What is the treatment for thalassemia?
Iron chelation and blood transfusions are the usual therapies for thalassemia major.
- To restore normal levels of healthy red blood cells and hemoglobin, a blood transfusion entails receiving injections of red blood cells via a vein.
- Iron chelation is the process of eliminating too much iron from your body. Iron overload is a risk associated with blood transfusions.
- An excess of iron can harm organs. Iron chelation therapy, which can be taken as a pill, will be administered to you if you receive transfusions frequently.
- Your body can produce healthy blood cells with the aid of folic acid supplements.
- The only cure for thalassemia is a bone marrow and stem cell transplant from a compatible related donor.