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.

Frequently Asked Questions (FAQs)

What is Beta-thalassemia major?
A severe form of thalassemia that affects hemoglobin production.

What causes Beta-thalassemia major?
Genetic mutation in the HBB gene that codes for beta-globin.

What are the symptoms of Beta-thalassemia major?
Severe anemia, fatigue, pale skin, and poor growth.

How is Beta-thalassemia major diagnosed?
Blood tests, genetic testing, and hemoglobin analysis.

Is Beta-thalassemia major inherited?
Yes, it is an autosomal recessive disorder.

What is the treatment for Beta-thalassemia major?
Regular blood transfusions and iron chelation therapy.

Can Beta-thalassemia major be cured?
Bone marrow transplant or stem cell transplant can cure the condition.

What are the complications of Beta-thalassemia major?
Iron overload, heart problems, and increased risk of infections.

How often do patients with Beta-thalassemia major need blood transfusions?
Typically every 2-4 weeks.

Is there a way to prevent Beta-thalassemia major?
Genetic counseling and prenatal testing can help identify at-risk pregnancies.