Synthesis of HB Lepore Boston in Peripheral Blood

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Abstract
Two sisters, double heterozygotes for Hb Lepore and .beta.-thalassemia, of Italian origin (Naples), were extensively studied because of their particularly mild clinical and hematological picture, rather unusual in this type of syndrome. Family studies were carried out, and 2 Hb Lepore heterozygous carriers (the mother and a sister) and 2 .beta.-thalassemia heterozygotes (the father and a brother) were identified. In vitro biosynthetic studies carried out in a Hb Lepore carrier and the Hb Lepore/.beta.-thalassemia double heterozygotes indicated an evident incorporation of radioactivity into the chromatographic peak which structural studies demonstrated to be Boston (= Washington) type of .delta..beta.-chain (i.e., .delta.87 Gln .beta.116 His). The amounts of synthesis were roughly of the same order of magnitude as the relative levels of Hb Lepore in the red cell hemolysates, indicating the presence in the reticulocytes of these subjects, of stable .delta..beta. mRNA molecules. These findings provide the opportunity to reconsider the current views indicating the instability of mRNA as the cause of the low synthetic activity of the .delta..beta. and .beta..delta. fusion genes.