Hemoglobinopathies: three illustrative case studies

Three cases studies from the Regional Hemoglobinopathy Laboratory at St. Joseph’s Hospital in Hamilton are presented. These cases demonstrate the diagnostic value of a comprehensive hemoglobinopathy screen, family studies, and appropriate clinical information in solving complex hemoglobinopathy problems. The first case is a 79-year-old woman found to have small amounts of an unknown hemoglobin migrating electrophoretically in the position of hemoglobin S. The second case describes a boy of Greek extraction with a thalassemic blood picture but otherwise normal hemoglobinopathy screen. The third case involves a 70-year-old man with a previously normal hemoglobinopathy screen who subsequently showed evidence of alpha thalassemia.