Cooley's Anemia

Cooley's anemia is a rare, life-threatening blood disorder that requires regular transfusions and extensive medical care. The condition is inherited, which means that people with the disease received variant genes from both parents. Severe symptoms generally appear by age two and include dark urine, abnormal facial bones, and poor growth. Aside from transfusions, the condition can also be treated with a bone marrow transplant.

What Is Cooley's Anemia?

Cooley's anemia, also known as beta thalassemia major, is a rare condition that requires regular blood transfusions and extensive medical care. The condition mainly affects people from Mediterranean countries and Asia. However, in 1993, a survey showed that there were 518 patients in the United States with Cooley's anemia. Most of these patients had the severe form of the illness.

What Causes It?

Cooley's anemia occurs when there are variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to other parts of the body. People with Cooley's anemia make less hemoglobin and fewer circulating red blood cells than normal, which results in mild or severe anemia. The condition is always inherited (passed from parents to children), which means that people with Cooley's anemia received variant genes from both parents.

Understanding Hemoglobin

Hemoglobin is made up of two kinds of protein chains called alpha-globin chains and beta-globin chains. Alpha thalassemia occurs when there is a problem in the alpha-globin chain. Beta thalassemia occurs when there is a problem in the beta-globin chain.
There are both mild and severe forms of alpha thalassemia and beta thalassemia. Severe beta thalassemia is often called Cooley's anemia.
Two genes are involved in making the beta-globin part of hemoglobin, one from each parent. Beta thalassemia occurs when one or both of the two genes are variant. For example:
  • If one gene is affected, a person is considered a carrier and has mild anemia. This condition is called beta thalassemia trait or beta thalassemia minor.
  • If both genes are affected, a person may have moderate anemia (beta thalassemia intermedia or mild Cooley's anemia) or severe anemia (beta thalassemia major or Cooley's anemia).

Thalassemia Anemia

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