Synthesis of HB Lepore Boston in Peripheral Blood

Abstract

__-Two sisters, double heterozygotes for Hb Lepore and B-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 two Hb Lepore heterozygous carriers (the mother and a sister) and two 6-thalassemia heterozygotes (the father and a brother) were identified. In vitro biosynthetic studies carried out in both a Hb Lepore carrier and the Hb Lepore/B-thalassemia double heterozygotes indicated an evident incorporation of radioactivity into the chromatographic peak which structural studies demonstrated to be Boston (= Washington) type of 6B-chain (i.e., 687 Gln a 1 1 6 His). The amounts o f synthesis were -means. electronic o r mcchanical. lncludrng photocopying, microfilming, and recording, or by any information storage and retrieval system, without permission in writing from the publisher.Hemoglobin Downloaded from informahealthcare.com by McMaster University on 12/26/14For personal use only.