Laboratory Identification of Inherited Hemoglobinopathies in Children

Abstract

The early identification of some clinically significant hemoglobinopathies and the precise differentiation of hemoglobin variants are important to pro vide early comprehensive medical care to prevent some serious complica tions, assess prognosis, and offer genetic counseling. Laboratory approaches to screen for and confirm inherited hemoglobinopathies in children are presented. Methods include routine screening procedures as well as techniques available in research laboratories, with emphasis on readily available pro cedures. Since microcytic hypochromic anemia is the most common type of anemia in children under two years, attention is given to the differentiation of thalassemia trait from iron deficiency. The step-by-step work-up is also described for differentiating β-thalassemia from α-thalassemia.