Hereditary Persistence of Fetal Hemoglobin: A Study of 79 Affected Persons in 15 Negro Families in Baltimore

Hereditary persistence of fetal hemoglobin is an anomaly of hemoglobinproduction apparently caused by a mutant gene that inhibits synthesis ofhemoglobins A and A₂. Alkali-resistant hemoglobin indistinguishable fromhemoglobin F of umbilical cord blood is produced, presumably as a compensatory phenomenon, so that neither anemia nor hypochromia of the red cellsoccurs. The data summarized are compatible with the hypothesis that functionof the loci of the and chains of globin is wholly suppressed, quite possibly by a mutant "operator" gene affecting linked structural loci. Heterozygotesfor the anomaly have high concentrations of hemoglobin F in the erythrocytes,with a remarkably uniform distribution of fetal hemoglobin throughout thered cell population. Erythrocytes of persons with the anomaly resembleadult red cells with respect to the non-hemoglobin proteins and the oxygendissociation curve. Experience with 79 affected Negroes in Baltimore is compared with that reported by other investigators. The occasional difficulty indifferentiating the anomaly from other conditions, particularly thalassemia,is emphasized.

Submitted on July 23, 1962