From the Guidelines
Cooley's anemia, also known as beta thalassemia major, requires lifelong blood transfusions and iron chelation therapy to prevent iron-related complications, as stated in the consensus statement from the American Heart Association 1. The condition is characterized by severe reduction or absent production of the β-globin chain constituent of hemoglobin, resulting in ineffective erythropoiesis and profound anemia that is life-threatening from ≈1 to 2 years of age. Key aspects of management include:
- Regular blood transfusions every 2-4 weeks to maintain hemoglobin levels above 9-10 g/dL
- Iron chelation therapy with deferasirox, deferoxamine, or deferiprone to prevent iron overload
- Lifelong monitoring of iron levels through serum ferritin tests and liver/cardiac MRIs
- Folic acid supplementation to support red blood cell production
- Consideration of bone marrow transplantation or gene therapy as potential curative options, particularly in childhood with a matched sibling donor. According to the study published in Circulation in 2013 1, a broad phenotypic characterization of beta thalassemia major is the requirement for >8 transfusion events per year in an adult aged >16 years, highlighting the need for comprehensive and ongoing care.
From the Research
Cooley's Anemia Overview
- Cooley's anemia, also known as beta-thalassemia major, is a severe form of thalassemia that requires lifelong blood transfusions and iron chelation therapy to manage iron overload 2, 3, 4.
- Iron overload is a significant problem in patients with transfusion-dependent beta-thalassemia, and chelation therapy is necessary to prevent complications associated with hemosiderosis 4.
Iron Chelation Therapy
- Deferoxamine, deferiprone, and deferasirox are commonly used iron chelators, with deferasirox being an oral agent that has been shown to be effective in reducing serum ferritin levels and iron burden 2, 3, 5.
- Dual chelation therapy with deferasirox and deferoxamine may provide more aggressive iron chelation and has been shown to be effective in reducing serum ferritin and liver iron content 6.
- Adherence to therapy is crucial for good results, and alternating chelators can reduce adverse effects and improve compliance 4.
Efficacy and Safety of Iron Chelation Therapy
- Studies have demonstrated the efficacy and safety of iron chelation therapy with deferasirox, deferoxamine, and deferiprone in patients with beta-thalassemia major 2, 3, 4, 5.
- Common adverse effects of iron chelation therapy include gastrointestinal upset, skin rash, and increased blood creatinine, but these are generally mild to moderate and transient 2, 5.
- Long-term use of deferasirox has been shown to be generally well tolerated and effective in reducing iron burden in pediatric and adult patients with beta-thalassemia major 5.