Etymed
thalassemia
Definition
A genetic disorder characterized by abnormal hemoglobin production, leading to anemia
Clinical context
A 25-year-old woman presents with fatigue, pallor, and shortness of breath. Lab results show microcytic, hypochromic anemia with low hemoglobin levels. Her family history reveals similar symptoms in her cousin. Genetic testing confirms beta-thalassemia major. CBC shows increased reticulocyte count and elevated serum iron levels.
Mnemonic
THALASSEMIA - Think Hemoglobin Abnormality Leading to Anemia