Beta-Thalassemia Major

Beta-thalassemia major, also known as Cooley's anemia, is a severe form of thalassemia, a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues.

Causes and Inheritance

Beta-thalassemia major is caused by mutations in the HBB gene, which codes for the beta-globin subunit of hemoglobin. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Symptoms

The symptoms of beta-thalassemia major typically appear within the first two years of life and may include:

• Pale skin
• Weakness and fatigue
• Shortness of breath
• Jaundice (yellowing of the skin and eyes)
• Enlarged spleen
• Bone deformities, such as an enlarged head or cheekbones
• Growth retardation

Diagnosis

The diagnosis of beta-thalassemia major is typically made through a combination of the following tests:

• Complete blood count (CBC) to measure red blood cell count, hemoglobin level, and other blood parameters
• Hemoglobin electrophoresis to identify abnormal hemoglobin variants
• Molecular testing to detect mutations in the HBB gene

Treatment

The treatment of beta-thalassemia major typically involves:

• Regular blood transfusions to provide adequate red blood cells and hemoglobin
• Iron chelation therapy to remove excess iron from the body, which can accumulate due to frequent blood transfusions
• Folic acid supplements to support red blood cell production
• Bone marrow transplantation or gene therapy in some cases

Complications

If left untreated or inadequately treated, beta-thalassemia major can lead to several complications, including:

• Heart problems, such as heart failure and arrhythmias
• Liver damage and cirrhosis
• Bone deformities and osteoporosis
• Infections and sepsis
• Endocrine disorders, such as diabetes and hypothyroidism

Prognosis

With proper treatment, individuals with beta-thalassemia major can lead active and productive lives. However, the condition requires lifelong management and monitoring to prevent complications and ensure optimal health outcomes.