title: A screening protocol for a prenatal population at risk for inherited hemoglobin disorders: results of its application to a group of Southeast Asians and blacks.
abstract: Several inherited hemoglobin disorders are present among certain racial subgroups of the United States population, particularly among blacks and Southeast Asians. Many of these disorders are unfamiliar to the obstetrician-gynecologist but may have important implications for care in pregnancy, including genetic counseling and prenatal diagnosis. A simple, effective screening tool was devised for detection of thalassemias and hemoglobinopathies in a prenatal clinic population. Use of the tool resulted in diagnosis of a hemoglobin disorder in 20% of a group of black patients; diagnoses included alpha-thalassemia trait, beta-thalassemia trait, hemoglobin C trait, hemoglobin S/C disease, hemoglobin S trait, sickle cell anemia, and hemoglobin Lepore. In a group of Southeast Asian patients, 39% had a hemoglobin disorder, including alpha-thalassemia trait, beta-thalassemia trait, hemoglobin E disease, and hemoglobin H disease. Implications for care are discussed.
mesh_terms: D001210:Asia, Southeastern / Q000208:ethnology; D044383:Black People; D005260:Female; D005817:Genetic Counseling; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000635:transmission; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D011296:Prenatal Diagnosis; D014481:United States; D001741:Black or African American