thalassemia major

Full Definition

Thalassemia major is the most severe form of beta-thalassemia, an inherited blood disorder characterized by reduced production of beta-globin chains of hemoglobin. Children with this condition typically present with severe anemia, failure to thrive, and hepatosplenomegaly within the first two years of life. Without regular blood transfusions, the condition is fatal. Long-term complications include iron overload from repeated transfusions, requiring chelation therapy. The condition is most common in children of Mediterranean, Middle Eastern, and Southeast Asian descent.

Usage

Usage note: Capitalize 'major' when part of the full diagnostic term.

In Context

• "The infant was diagnosed with thalassemia major after genetic testing confirmed homozygous beta-thalassemia mutations." — Genetic counseling report
• "Children with thalassemia major require lifelong transfusion support and iron chelation therapy." — Treatment protocol