Hb P-Nilotic betadelta hybrid (beta through 22; delta from 50)
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves slower than Hb A at alkaline pH; it separates readily by IEF
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex or DEAE-cellulose column
STRUCTURE STUDIES Tryptic digestion of AE-deltabeta chain; separation of peptides by fingerprinting, cation exchange chromatography or reversed phase HPLC; amino acid analysis
DNA ANALYSES The betadelta gene of Hb P-Nilotic is located between a delta and a beta gene and results from a non-homologous crossover between beta and delta genes; this crossover occurred without loss of bases within a 54 bp stretch of DNA between nts 275 and 330 (corresponding to amino acid residues 31 and 50); thus, exon 1 and IVS-I originate from beta; exon 2, IVS-II, and exon 3 from delta
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect and cooperativity
OCCURRENCE Found in a Nubian living in Cairo, and in Mexican-American, Turkish, and Sudanese families
OTHER INFORMATION Quantity in the heterozygote 16-21%; found in association with beta+-thal
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This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.