Homozygous Beta Thalassemia Major also known as Cooley's Anemia
What is homozygous beta thalassemia major (Cooley's Anemia)?
Homozygous beta thalassemia major, also known as Cooley's Anemia, is an inherited blood disorder that affects a person's ability to produce beta protein, causing anemia. Anemia is also known as having a low blood count. It is generally found in people of Mediterranean descent such, as Italians and Greeks, as well as people who live in Arabia, Iran, Africa, Southeast Asia, and China.
Cooley's anemia is the most severe form of beta thalassemia disease. This is because the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron overload that must be treated with chelation therapy to prevent early death from organ failure. Generally, chelation therapy is any drug treatment that helps the body rid itself of excessive levels of iron, a condition known as iron overload.
What is hemoglobin?
Hemoglobin is a protein that exists inside the red blood cells, carrying oxygen throughout the body. Cooley's anemia disease causes a dramatic decrease in the production of hemoglobin, resulting in anemia. This anemia can cause people to be more tired than normal. This life-threatening anemia requires regular blood transfusions and extensive ongoing medical care.
How do you get homozygous beta thalassemia major (Cooley's Anemia)?
Homozygous beta thalassemia major is an inherited disease. It is passed on from a child's mother and father through their genes. People who have one or both parents who carry the genetic trait for thalassemia are likely to inherit homozygous beta thalassemia major. This means that the disease is something a child has at birth and throughout his or her life. It is not a communicable disease. You cannot “catch it” form someone else.
Hemoglobin consists of three parts: 1) a heme protein, 2) an alpha globin, and 3) a beta globin. In Cooley's Anemia disease, the amount of beta globin made by the body is dramatically decreased. The amount of beta globin to be made depends on the inherited instructions on each person's genes. Genes are found in every cell of the body (except red blood cells).
Some common signs of severe anemia include:
- Pale or yellowish skin
- Yellow eyes
- Extreme fatigue
- Abdominal/back pain
- Dark black stools
- Dark orange urine
NOTE: This brochure does not replace an informed discussion between a patient and his or her healthcare provider.
Texas Department of State Health Services
Newborn Screening Unit
PO Box 149347, MC 1918
Austin, TX 78714-9347
Phone: 1-800-252-8023, ext. 3957