Laboratory identification of inherited hemoglobinopathies in children.
The early identification of some clinically significant hemoglobinopathies and the precise differentiation of hemoglobin variants are important to provide early comprehensive medical care to prevent some serious complications, 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 procedures. 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 beta-thalassemia from alpha-thalassemia.
D044383:Black People; D001797:Blood Protein Electrophoresis; D019411:Clinical Laboratory Techniques; D005319:Fetal Hemoglobin; D006443:Hemoglobin A2; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal; D006801:Humans; D007231:Infant, Newborn; D010100:Oxygen / Q000097:blood; D013789:Thalassemia / Q000175:diagnosis
D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin; D010100:Oxygen