Severe symptoms of Cooley's anemia typically appear in the first two years of life. Symptoms include:
- Fatigue and weakness
- Pale skin or jaundice (yellowing of the skin)
- Protruding abdomen with enlarged spleen and liver
- Dark urine
- Abnormal facial bones and poor growth
- A poor appetite.
Adolescents with Cooley's anemia may experience delayed puberty. It is important to get treatment for Cooley's anemia, because heart failure and infection are the leading causes of death among children with untreated Cooley's anemia.
Cooley's anemia is diagnosed through blood tests, including a complete blood count (CBC) and special hemoglobin studies.
A CBC provides information about the amount of hemoglobin in the blood and the different kinds of blood cells present. People with Cooley's anemia have less hemoglobin than normal and fewer red blood cells than normal in their blood.
Hemoglobin studies measure the types of hemoglobin in a blood sample.
(Click Thalassemia Diagnosis for more information about how the condition is diagnosed.)
Current Treatment for Cooley's Anemia
The outlook for children with Cooley's anemia has improved due to blood transfusions and antibiotics. Frequent transfusions keep hemoglobin levels near normal and prevent many of the complications of Cooley's anemia. However, repeated blood transfusions lead to iron overload -- a buildup of iron in the body -- that can damage the heart, liver, and other organs in the body. Drugs known as iron chelators can help rid the body of excess iron, preventing or delaying problems related to iron overload.
Thalassemia research scientists are studying new treatments for Cooley's anemia, including ways to cure the disease through stem cell and gene therapies.