Cooley anemia

Cooley's Anemia, also known as Thalassemia Major, is a genetic blood disorder characterized by the reduction in the synthesis of one of the globin chains that make up hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen from the lungs to the rest of the body. The disorder results in excessive destruction of red blood cells, which leads to anemia, a condition in which you lack enough healthy red blood cells to carry adequate oxygen to your body's tissues.

Causes and Genetics

Cooley's Anemia is caused by mutations in the HBB gene on chromosome 11. The disease is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Symptoms

Symptoms of Cooley's Anemia can include fatigue, weakness, paleness, and slow growth. In severe cases, the disease can cause facial bone deformities, enlarged spleen (splenomegaly), heart problems, and liver problems. The symptoms usually appear in the first two years of life.

Diagnosis

Diagnosis of Cooley's Anemia involves a complete blood count (CBC), hemoglobin electrophoresis, and genetic testing. Hemoglobin electrophoresis is used to identify the type of thalassemia.

Treatment

Treatment for Cooley's Anemia may include regular blood transfusions, iron chelation therapy to remove excess iron from the body, and folic acid supplements. In some cases, a bone marrow transplant may be considered as a potential cure.

Prognosis

With proper treatment, individuals with Cooley's Anemia can live well into adulthood. However, they may experience complications from the disease or its treatment, such as iron overload, infection, and bone deformities.

Epidemiology

Cooley's Anemia is most commonly found in people of Mediterranean, African, and Southeast Asian descent. The exact number of people affected by the disease is difficult to determine, as many carriers are asymptomatic.