Studies of globin chain synthesis and globin mRNA content in a patient homozygous for hemoglobin Lepore.

Globin chain synthesis and globin mRNA content were studied in blood cells of a patient homozygous for Hb Lepore. Peripheral blood cells incubated with tritiated leucine synthesized approximately 1.5 to 3% as many Lepore globin chains as alpha chains. Globin mRNA in peripheral blood cell RNA was assayed by molecular hybridization assays using human alpha and beta cDNA, and the results indicated the presence of approximately 1% to 2% as much beta-like mRNA (presumably deltabeta Lepore mRNA) as alpha mRNA. The amount of Lepore deltabeta chain mRNA in peripheral blood cells is therefore proportional to the amount of Lepore globin chain synthesis in the same cells. An incidental observation was the finding that peripheral blood cell RNA of this patient, at a time when she was being heavily transfused, contained substantially higher levels of beta-like mRNA (relative to alpha mRNA) than in subsequent studies. Cell-free translation of this mRNA however revealed that it contained authentic beta chain mRNA which must have been derived in some way from the transfused blood cells.