Cord blood study on beta-thalassemia and hemoglobin E.
We describe hematologic data from 18 newborn infants including follow-up data. Of these, ten were the offspring of patients with beta-thal/Hb E disease and the remainder were infants who were found to have a decrease in red cell osmotic fragility during a random cord blood examination. The results of the cord blood study showed that two infants having normal red cell osmotic fragility with about 2% Hb E + Hb A + Hb F at birth represented Hb E heterozygosity. Eleven babies had slightly decreased red cell osmotic fragility, a mild degree of microcytosis and poikilocytosis, and hemoglobin types of Hb A + Hb F with no elevation of Hb A2 at birth. They subsequently had hematologic findings consistent with the beta-thal heterozygosity. The means of hematological values of cord blood in the beta-thal trait infants appeared to be statistically different from those in the normal infants only with respect to increased red cell count and reduced MCH. One infant was thought to have the beta-thal trait but had a greater degree of thalassemic changes in red cells; subsequently he turned out to have homozygous beta-thalassemia. Four newborn infants with hypochromia and numerous target cells had 4-7% Hb E + Hb F without Hb A. Follow-up examination showed two cases of Hb E homozygosity; however, the others, who had obvious microcytosis and poikilocytosis in cord blood, finally developed beta-thal/Hb E disease. Thus, a careful study on red cell osmotic fragility, morphology and starch gel electrophoresis at birth allows detection and diagnosis of beta-thal heterozygosity, beta-thal homozygosity, Hb E heterozygosity, Hb E homozygosity and double heterozygosity for beta-thal and Hb E.
D005312:Fetal Blood / Q000032:analysis*; D005319:Fetal Hemoglobin / Q000032:analysis; D006441:Hemoglobin A / Q000032:analysis; D006446:Hemoglobin E / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009996:Osmotic Fragility; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006441:Hemoglobin A; D006446:Hemoglobin E; D005319:Fetal Hemoglobin; C030448:hemoglobin Bart's