Hb Mequon beta41(C7)Phe->Tyr
         
CONTACT Heme contact
HEMATOLOGY Severe hemolytic crisis during viral infection; treated with acetaminophen; Heinz bodies present at this time; past general health excellent; macrocytosis and reticulocytosis
ELECTROPHORESIS No separation reported
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TTC->TAC at codon 41
FUNCTION STUDIES Normal
STABILITY Unstable
OCCURRENCE Found in a female of English-Irish extraction
OTHER INFORMATION Quantity in the heterozygote ~40-50% by amino acid analysis
       
REFERENCES
1. Burkert, L.B., Sharma, V.S., Pisciotta, A.V., Ranney, H.M., and Bruckheimer, S.: Blood, 48:645, 1976.


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.