What are the 4 types of thalassemia?

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What is alpha thalassemia?

Thalassemia (thal-uh-SEE-mee-uh) is an inherited blood disorder. This means that it is passed down from one or both parents through their genes. When you have thalassemia your body produces less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. it carries oxygen to all body parts.

There are 2 main types of thalassemia: alpha and beta. Each type affects different genes.

Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on the number of genes affected.

What causes alpha thalassemia?

Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin gene) are missing or damaged.

There are 4 types of alpha thalassemia:

Alpha-thalassemia silent carriers. One gene is missing or damaged and the other 3 genes are normal. Blood tests are usually normal. Your red blood cells may be smaller than normal. Being a silent carrier means you have no signs of the disease but you can pass damaged genes on to your children. DNA testing confirmed this.
Alpha-thalassemia carriers. Two genes are missing. You may have mild anemia.
Hemoglobin H disease. Three genes are missing. This leaves only 1 working gene. You may have moderate to severe anemia. Symptoms can be worsened by fever. They can also get worse if you are exposed to certain pharmaceutical chemicals or infectious agents. Blood transfusions are often required. you have one There is a greater risk of having a child with severe alpha thalassemia.
Alpha thalassemia major. All 4 genes were deleted. This can lead to severe anemia. In most cases babies with this condition die before birth.

Who is at risk for alpha thalassemia?

This is a genetic disorder inherited from one or both parents. The only risk factor is a family history of the disease.

What are the symptoms of alpha thalassemia?

Different people have different symptoms depending on the type of alpha thalassemia they inherit. Common symptoms of each type may include:

Silent alpha thalassemia carriers. There are no symptoms of this type.
Alpha-thalassemia carriers. You may have mild anemia. You may not have any symptoms. Or you may have mild symptoms such as mild fatigue or exercise intolerance.
Hemoglobin H disease. This type causes moderate to severe symptoms. These include lack of energy (fatigue) and exercise intolerance. You may also have an enlarged liver or spleen yellow skin and ulcers in your legs. You are at greater risk of having a child with the most severe form of alpha thalassemia Considerable.
Alpha thalassemia major. Babies of this type usually die before birth.

How is alpha thalassemia diagnosed?

Alpha thalassemia is most commonly found in the following regions of the world:

Africa
Middle East
India
Southeast Asia
Southern China
Mediterranean region

The following tests may help tell if you are a carrier and can pass the disease on to your child:

Complete blood count (CBC). This test checks the size and maturity of different blood cells in a volume of blood.
Hemoglobin electrophoresis with A2 and F quantification. A laboratory test that can tell you what type of hemoglobin is present.
FEP (free erythrocyte protoporphyrin) and ferritin. This test is done to rule out iron deficiency anemia.

All of these tests can be done using a single blood sample. In pregnant women babies are diagnosed using CVS (chorionic villus sampling) or amniocentesis. A DNA test is required to diagnose alpha thalassemia.

How is alpha thalassemia treated?

Your healthcare provider will formulate the best treatment plan for you based on the following factors:

your age general health and medical history
How sick you are
How well you handle certain drug procedures or therapies
How long this situation is expected to last
Your opinion or preference
Treatment may include:
Daily doses of folic acid
Blood transfusions (as needed)
Surgery to remove your spleen
Medicines to reduce excess iron in the body (called iron chelation therapy)
Avoid certain oxidative drugs in hemoglobin H disease

Living with alpha thalassemia

People with alpha thalassemia may not have any symptoms. Or they may have many symptoms. If you have no symptoms you may still want to see a specialist. He or she can help you understand the risk of passing the disease to your child.

Consult your healthcare provider if you have symptoms. He or she can help you find the best treatment to reduce the symptoms of anemia.

Key points about alpha thalassemia

Thalassemia is an inherited blood disorder. It causes the body to produce less hemoglobin than normal.
There are 4 different types of alpha thalassemia.
Depending on the type of alpha thalassemia inherited this condition causes mild to severe anemia.
People with this disease can pass it on to their children.
There is no cure. Treatment can reduce symptoms.