Overview, Causes, & Risk Factors
Thalassemia is an inherited condition that causes a problem in the production of hemoglobin. This leads to anemia, which is a low red blood cell count.
Thalassemia is an inherited disorder. In a person with thalassemia, one or both parents are positive for the disease. When one parent is positive, the child will have thalassemia minor. When both parents are positive, the child will have thalassemia major.
What is going on in the body?
Hemoglobin carries oxygen from the lungs to the tissues. It also carries away the waste product of carbon dioxide. In thalassemia, something goes wrong with the production of hemoglobin. When defective hemoglobin is incorporated into red blood cells, the red blood cells do not function properly. They are more likely to die off. This leads to anemia.Thalassemia is an inherited disorder. In a person with thalassemia, one or both parents are positive for the disease. When one parent is positive, the child will have thalassemia minor. When both parents are positive, the child will have thalassemia major.
What are the causes and risks of the disease?
Thalassemia is a common genetic disease. It is more common in people of African, Mediterranean, and Asian heritageSymptoms & Signs
What are the signs and symptoms of the disease?
The symptoms of thalassemia depend on the genetic defect and its severity. The more severe the genetic defect, the less hemoglobin that is produced and the more severe the anemia that results. Thalassemia minor may not cause any symptoms. If it does, the most common symptom is long-term, mild anemia.Someone with thalassemia major usually has severe hemolytic disease. This means that the red blood cells are constantly being destroyed. This occurs faster than the body can replace them. Thalassemia major is usually diagnosed by 1 year of age. The symptoms of thalassemia major may include:
Diagnosis & Tests
How is the disease diagnosed?
Thalassemia is diagnosed through blood tests. A sample of blood is taken to look for a low red blood cell count, low hemoglobin levels, small red blood cells, or an abnormal red blood cell structure. Sometimes a more complex genetic analysis is needed.Prevention & Expectations
What can be done to prevent the disease?
There is no way to prevent thalessemia once the child is born. Genetic counseling may be helpful to couples with a family history of the disease. There is a 25% chance with each pregnancy that a child will be born with thalassemia major if both parents carry the gene for thalassemia.What are the long-term effects of the disease?
Thalassemia minor usually does not cause long-term problems. Thalassemia major, however, can result in stunted growth, problems in bone development, darkened skin, general growth problems, and death.What are the risks to others?
Thalassemia is an inherited condition, so a person can passed it on to his or her children.Treatment & Monitoring
What are the treatments for the disease?
With severe thalassemia, regular blood transfusions are needed. The person will also require folic acid and other nutritional supplements.An individual who has frequent red blood cell transfusions can develop iron overload. This can be avoided with chelation therapy. This is a process that removes excess iron from the body. This therapy may need to be started early in childhood.
Some treatments for thalassemia are still being tested in clinical trials. These include:
These approaches are usually reserved for severe thalassemia.
What are the side effects of the treatments?
Frequent blood transfusions can lead to an iron overload. Excess iron can end up in various body tissues and cause skin discoloration, liver disease, and diabetes. Chelation, which involves daily injections of an iron-binding agent, can help eliminate the excess iron from the body.There are risks with any blood transfusion. These include an allergic reaction, infection, and sometimes hepatitis or HIV, the virus that causes AIDS.
Bone marrow transplants can cause the body to attack the new bone marrow. Or the new bone marrow may not function at all.
What happens after treatment for the disease?
A person with severe thalassemia may need frequent blood transfusions for the rest of his or her life.How is the disease monitored?
Thalassemia is monitored by frequent blood tests. The person will need to be followed closely by the healthcare provider. Any new or worsening symptoms should be reported to the provider.Attribution
Author:Linda Agnello, RN, BSN
Date Written:
Editor:Smith, Mary Ellen, BS
Edit Date:09/16/00
Reviewer:Gail Hendrickson, RN, BS
Date Reviewed:07/03/01
Black JM. Matassarin-Jacobs E.: Medical-surgical nursing: clinical management for continuity of care. ed 5; ch 53; p 1482-3. Philadelphia, 1997, W.B. Saunders.
Isselbacher KJ, Braunwald E, Wilson, JD, et al: Harrison's principles of internal medicine. ed 13; p 1901-1904. New York, 1994, McGraw-Hill.
Martin MB. Butler RB. Understanding the basics of beta thalassemia major. Pediatric Nursing. 19(2): 143-5, 1993 Mar-Apr.
The Merck Manual of Medical Information, 1997
Professional Guide to Diseases: 6th edition, 1998
Date Written:
Editor:Smith, Mary Ellen, BS
Edit Date:09/16/00
Reviewer:Gail Hendrickson, RN, BS
Date Reviewed:07/03/01
Sources
Isselbacher KJ, Braunwald E, Wilson, JD, et al: Harrison's principles of internal medicine. ed 13; p 1901-1904. New York, 1994, McGraw-Hill.
Martin MB. Butler RB. Understanding the basics of beta thalassemia major. Pediatric Nursing. 19(2): 143-5, 1993 Mar-Apr.
The Merck Manual of Medical Information, 1997
Professional Guide to Diseases: 6th edition, 1998
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