Cooley's anemia
=Cooley's Anemia =
Cooley's Anemia, also known as Beta Thalassemia Major, is a severe blood disorder caused by a genetic mutation that affects the production of hemoglobin. This condition is part of a group of inherited blood disorders known as Thalassemia.
Etiology[edit | edit source]
Cooley's Anemia is caused by mutations in the HBB gene, which provides instructions for making beta-globin, a component of hemoglobin. The disease is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations.
Pathophysiology[edit | edit source]
In individuals with Cooley's Anemia, the production of beta-globin is reduced or absent, leading to an imbalance in the alpha and beta chains of hemoglobin. This imbalance causes ineffective erythropoiesis and hemolysis, resulting in severe anemia and other complications.
Clinical Features[edit | edit source]
Patients with Cooley's Anemia typically present with symptoms in early childhood, including:
- Severe anemia
- Fatigue
- Pallor
- Jaundice
- Growth retardation
- Skeletal abnormalities due to bone marrow expansion
Diagnosis[edit | edit source]
Diagnosis of Cooley's Anemia involves:
- Complete blood count (CBC) showing microcytic, hypochromic anemia
- Hemoglobin electrophoresis revealing reduced or absent HbA
- Genetic testing to identify mutations in the HBB gene
Treatment[edit | edit source]
Management of Cooley's Anemia includes:
- Regular blood transfusions to maintain hemoglobin levels
- Iron chelation therapy to prevent iron overload from transfusions
- Bone marrow or stem cell transplantation as a potential cure
Complications[edit | edit source]
Complications of Cooley's Anemia can include:
- Iron overload leading to damage to the heart, liver, and endocrine organs
- Increased risk of infections
- Osteoporosis
Prognosis[edit | edit source]
With appropriate treatment, individuals with Cooley's Anemia can live into adulthood, although they may experience complications related to iron overload and other aspects of the disease.
Research and Future Directions[edit | edit source]
Research is ongoing to find better treatments and potential cures for Cooley's Anemia, including gene therapy and improved iron chelation strategies.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Cooley's anemia is a rare disease.
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Contributors: Prab R. Tumpati, MD
