Thalassemia is a genetic blood disease in which the body produces very low levels of hemoglobin or none at all. Hemoglobin is the red pigment in red blood cells that carries oxygen through the body. The disease results in small, abnormal red blood cells and anemia.
Thalassemias are named for the amino acid chain in the hemoglobin molecule that is affected. (Amino acids are the building blocks of protein.) The two main types are:
- Alpha thalassemia - the alpha chain is affected
- Beta thalassemia - the beta chain is affected
Thalassemias are also categorized by the number of genes that are defective:
- Thalassemia minor – one defective gene
- Thalassemia major – two defective genes
Causes
Thalassemia is caused by genetics. Both parents must have the Thalassemia trait in order to pass it on to their child.
Risk Factors
A risk actor is something that increases your chance of getting a disease or condition.
- Geographic location of ancestors, including:
- Alpha thalassemias - Southeast Asia, Malaysia, and Southern China
- Beta thalassemias - areas surrounding the Mediterranean Sea, Africa, and Southeast China
Symptoms
Symptoms of
Thalassemia usually begin within 3-6 months of birth.Symptoms may include:
- Anemia, which may be mild, moderate, or severe
- Yellowish discoloration of the skin, tissues, and body fluids (jaundice)
- Enlarged spleen
- Fatigue
- Listlessness
- Reduced appetite
- Enlarged and fragile bones, including:
- Thickening and roughening of facial bones
- Bones that break easily
- Teeth that don't line up properly
- Growth problems
- Increased susceptibility to infection
- Skin paler than usual
- Hormone problems such as:
- Delayed or absent puberty
- Diabetes
- Thyroid problems
- Heart failure
- Shortness of breath
- Liver problems
- Gallstones
Diagnosis
The doctor will ask about your symptoms and medical history, and perform a physical exam. Blood tests may include:
- Complete blood count
- Blood smear
- Quantitative hemoglobin analysis
- Iron levels
Treatment
Treatment may include:
Blood Transfusions
You may require blood transfusions to replace abnormal red blood cells with healthy new ones.
Iron Chelation Therapy
Excess iron can accumulate in the body after repeated blood transfusions. Too much iron can damage the heart, liver, and other vital organs. A drug call deferoxamine (Desferal) can be given to bind to excess iron in the body and carry it out through the urine. This drug is given through the skin or by vein using a small infusion pump.
Splenectomy
In some cases, surgically removing the spleen may help reduce the number of blood transfusions that are needed.
Bone Marrow Transplant
Healthy stem cells from a donors bone marrow are injected into your vein. The new cells travel through the bloodstream to the bone cavities, where they can produce new blood cells, including red blood cells. This is usually only done in severe cases. A compatible sibling donor is required.
Prevention
There are no known ways to prevent Thalassemia once a person is born. If you have Thalassemia or risk factors for Thalassemia you can talk to a genetic counselor before deciding to have children.