Further evidence of a quantitative deficiency of chain specific globin mRNA in the thalassemia syndromes

Formamide gel electrophoresis separates the mRNA fraction from reticulocyte polyribosomes of adult humans into 2 major RNA species with migratory rates identical to those of the α and β globin mRNAs of the rabbit. That these two RNAs of human origin are the globin RNAs is further supported by the deficiency of the presumed β mRNA in reticulocyte polyribosomes of fetuses and premature infants, whose cells make γ chains in preference to β chains. The globin mRNAs of reticulocyte polyribosomes from patients with hematological disorders were estimated by scanning the stained formamide gels. In contrast to individuals with either hemolytic anemia without hemoglobinopathy or sickle cell anemia who had β mRNA to α mRNA ratios of approximately one, a patient with Hb S β thalassemia had a ratio of β mRNA to α mRNA of 0.75 while 2 subjects with homozygous β thalassemia had severe deficiencies of β mRNA. Conversely, a patient with α thalassemia (Hb H disease) had a ratio of β mRNA to α mRNA on reticulocyte polyribosomes of 6. These data provide further evidence of a quantitative deficiency of chain specific globin mRNA in patients with the thalassemia syndromes.