What is a characteristic of Cooley's anemia (Beta-Thalassemia Major)?

From the Guidelines

Cooley's anemia (Beta-Thalassemia Major) is characterized by severe reduction or absent production of the β-globin chain constituent of hemoglobin (Hb) A, resulting in ineffective erythropoiesis and profound anemia.

Key Characteristics

• Ineffective erythropoiesis caused by an excess of α-globin chains
• Profound anemia that is life-threatening from ≈1 to 2 years of age 1
• Requirement for lifelong blood transfusions, with a broad phenotypic characterization of >8 transfusion events per year in an adult aged >16 years 1
• Increased risk of iron-related complications due to iron overload from transfusions, necessitating lifelong iron chelation treatment 1

Clinical Implications

• Heart failure is the most common cause of death in TM, primarily resulting from cardiac iron accumulation 1
• Diagnosis of ventricular dysfunction in TM patients is complicated by cardiovascular adaptation to chronic anemia, requiring estimation of cardiac iron by cardiac T2* magnetic resonance 1

From the Research

Characteristics of Cooley's Anemia (Beta-Thalassemia Major)

• Cooley's anemia, also known as Beta-Thalassemia Major, is a severe form of beta thalassemia that requires lifelong transfusions starting in early childhood, often before two years of age 2.
• It is characterized by a complete lack of beta protein in the hemoglobin, causing a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care 3.
• The condition leads to iron-overload due to extensive blood transfusions, which must be treated with chelation therapy to prevent early death from organ failure 3, 4.
• Patients with Beta-Thalassemia Major become severely anemic by 6 to 18 months of age and are transfusion dependent for life 5.
• Bone marrow expansion and extramedullary hematopoiesis are common complications of the disease, which can lead to morbidities affecting the skeletal system, endocrine organs, heart, and liver 2.
• The clinical severity of Beta-Thalassemia Major is related to the extent of imbalance between the alpha and nonalpha globin chains 6.