Studies of Globin Chain Synthesis and Globin mRNA Content in a Patient Homozygous for Hemoglobin Lepore

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Abstract
Globin chain synthesis and globin mRNA content were studied in blood cells of a patient homozygous for Hb Lepore. Peripheral blood cells incubated with 3H-leucine synthesized approximately 1.5-3% 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. c[complementary]DNA. The presence of approximately 1-2% as much .beta.-like mRNA (presumably .delta..beta. Lepore mRNA) as .alpha. mRNA was indicated. The amount of Lepore .delta..beta. chain mRNA in peripheral blood cells is proportional to the amount of Lepore globin chain synthesis in the same cells. 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 revealed that it contained authentic .beta. chain mRNA which must have been derived from the transfused blood cells.