Thalassemia is an inherited disorder. It leads to the decreased production and increased destruction of red blood cells. Hemoglobin in the red blood cells carry oxygen for all organs in the body. The loss of red blood cells results in low hemoglobin. This leads to
. The decreased oxygen will impair the ability to maintain normal functions.
This form usually causes milder forms of the disease. It has with varying degrees of anemia.
This form can be asymptomatic or be a mild form of disease. The mild form is known as thalassemia intermedia. This form rarely needs extensive medical care.
Beta Thalassemia Major (Cooley's Anemia)
This version usually has symptoms within the first two years of life. Children are pale and listless. They often have poor appetites. They grow slowly and often develop
(yellowing of skin). It is a serious disease. It requires regular
and extensive medical care.
Without treatment, the spleen, liver, and heart soon become very enlarged. Bones become thin and brittle. Abnormal deposits of iron in body organs can lead to organ failure. This is called
. It most often affects the heart, liver, and pancreas. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.
The doctor will ask about your symptoms and medical history. A physical exam will be done. Blood tests may include:
Complete blood count—a count of the different types of blood cells
Quantitative hemoglobin analysis
Treatment may include:
You may require blood transfusions. These are done 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
(Desferal) can be given to bind to excess iron in the body. It is then carried out through the urine. This drug is given through the skin or by vein using a small infusion pump.
There is a new drug for thei therapy called
(Exjade). It can be given as a drink, mixed with water or juice.
Healthy stem cells from a donor's bone marrow are injected into your vein. The new cells travel through the bloodstream to the bone cavities. There they can produce new blood cells, including red blood cells. This is usually only done in severe cases. A compatible sibling donor is required.
This disease is inherited. Blood tests and family genetic studies will show if you are a carrier. A genetic counselor can discuss risks of passing on the disease. They can also give you information on testing.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a