title: Thalassemia and pregnancy: results of an antenatal screening program.
abstract: A thalassemia screening program was implemented at our institution using the finding of a mean corpuscular volume less than 80 fl as the index of abnormality. Further evaluation using hemoglobin (Hb) electrophoresis and serum iron studies was carried out according to the scheme detailed below. A diagnosis of thalassemia was made in 33 women (42 pregnancies). Eight patients had alpha-thalassemia trait, 23 beta-thalassemia trait, and two Hb H disease. Thalassemia trait did not have any adverse effect on pregnancy outcome. In two couples the fetuses were at risk for homozygous disease and in one couple the fetus was at risk for sickle cell beta-thalassemia. The screening program described is an effective and inexpensive means of detecting thalassemia in an antenatal population and is applicable to most every clinic or office setting.
mesh_terms: D000328:Adult; D002140:California; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006400:Hematocrit; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000453:epidemiology*; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology*
chemical_list: D006455:Hemoglobins, Abnormal