Document Detail

Two new Ggamma chain variants: Hb F-clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys].
MedLine Citation:
PMID:  10722115     Owner:  NLM     Status:  MEDLINE    
Two new fetal hemoglobin variants affecting the Ggamma chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. The second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [beta19(B1)Asn-->Lys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.
H Wajcman; K Borensztajn; J Riou; D Promé; D Hurtrel; J Bardakdjian; D Léna-Russo; I Amouroux; R Ducrocq
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hemoglobin     Volume:  24     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  2000 Feb 
Date Detail:
Created Date:  2000-04-24     Completed Date:  2000-04-24     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  45-52     Citation Subset:  IM    
INSERM U 468 and Service de Biochimie Hôpital Henri Mondor, Creteil, France.
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MeSH Terms
Africa, Northern / ethnology
Algeria / ethnology
Amino Acid Substitution
Chromatography, High Pressure Liquid
Family Health
Fetal Hemoglobin / chemistry*,  genetics*
France / epidemiology,  ethnology
Genetic Variation
Globins / chemistry*,  genetics*
Hemoglobins, Abnormal / chemistry*,  genetics*
Infant, Newborn
Molecular Weight
Morocco / ethnology
Neonatal Screening
Tunisia / ethnology
alpha-Thalassemia / genetics
Reg. No./Substance:
0/Hemoglobins, Abnormal; 0/hemoglobin F Clamart; 0/hemoglobin F Ouled Rabah; 9004-22-2/Globins; 9034-63-3/Fetal Hemoglobin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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