Complex alpha-thalassemia-like syndrome: a cause of neonatal normoblastemia.
A previously unrecognized hypochromic anemia associated  with marked normoblastemia during the newborn period is reported. One male and two female siblings and a first cousin had a hypochromic anemia and marked normoblastemia (300 to 900 normoblast index per 100 white blood cells) at birth. Globin chain synthesis studies on peripheral blood of the proband at birth indicated the presence of alpha-thalassemia trait with possible reduced gamma chain synthesis. Studies of globin chain synthesis on the father, two older affected siblings of the proband, and the proband at 1.5 years of age revealed alpha-thalassemia trait. The data suggest this complex alpha-thalassemia-like condition as a new syndrome associated with marked neonatal normoblastemia.
D000293:Adolescent; D000747:Anemia, Hypochromic / Q000097:blood / Q000150:complications; D002648:Child; D004900:Erythroblasts / Q000032:analysis*; D004912:Erythrocytes / Q000032:analysis*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood*; D013577:Syndrome; D013789:Thalassemia / Q000097:blood* / Q000150:complications