Journal ArticleDOI
Occurrence of G gamma Hb F in Greek HPFH: analysis of heterozygotes and compound heterozygotes with beta thalassaemia.
John B. Clegg,A. Metaxatou-Mavromati,Christos Kattamis,K. Sofroniadou,William G. Wood,David J. Weatherall +5 more
TLDR
Analysis of the levels and structure of Hb F from the Greek HPFH heterozygotes and from separated cell populations from theGreek HPFH/β thalassaemia compound heterozygote indicate that the GreekHPFH determinant, while allowing an overall increase in γ chain synthesis, is not the sole factor determining the absolute amount of H b F production on a cellular basis.Abstract:
Haemoglobin F has been isolated from the red cells of individuals with the Greek form of hereditary persistence of fetal haemoglobin (HPFH), and the glycine/alanine composition of the gamma CB3 peptides determined. In contrast to previous reports we have shown that the Hb F of the Greek HPFH heterozygotes contains significant amounts of G gamma chains and circumstantial evidence indicates that these are the products of the same chromosome that carries the Greek HPFH determinant. Hence this chromosome must be directing the synthesis of G gamma, A gamma and (probably) beta and delta chains, thus implying that the Greek form of HPFH does not result from a deletion involving the globin chain structural genes. Analysis of the levels and structure of Hb F from the Greek HPFH heterozygotes and from separated cell populations from the Greek HPFH/beta thalassaemia compound heterozygotes indicate that the Greek HPFH determinant, while allowing an overall increase in gamma chain synthesis, is not the sole factor determining the absolute amount of Hb F production on a cellular basis.read more
Citations
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Journal ArticleDOI
DNA sequence variation associated with elevated fetal G gamma globin production.
J.G. Gilman,Titus H.J. Huisman +1 more
TL;DR: Calculations show that T at -158 is associated with a three- to 11-fold increase in production per G gamma gene, which is an order of magnitude less than that associated with the previously identified -202 C----G substitution of high Hb F G gamma-beta+-HPFH.
Journal ArticleDOI
The Molecular Genetics of Human Hemoglobins
TL;DR: The Ontogeny of Globin Gene Expression and Molecular Cloning and Repetitive Sequence Elements Within GlobinGene Clusters are reviewed.
Journal ArticleDOI
A point mutation in the A γ -globin gene promoter in Greek hereditary persistence of fetal haemoglobin
Francis S. Collins,Francis S. Collins,J E Metherall,Minoru Yamakawa,Julian Pan,Sherman M. Weissman,Bernard G. Forget +6 more
TL;DR: It is reported here that a point mutation (G→A) occurs 117 base pairs (bp) 5′ to the cap site of the Aγ-globin gene, just upstream of the distal CCA AT sequence, which is normal and discusses the implications of this finding for the developmental regulation of globin gene expression.
Journal ArticleDOI
G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.
TL;DR: The first report of a natural mutation of the CCAAT box in a eukaryotic gene is reported in an individual with the Aγ (Greek) type of hereditary persistence of fetal haemoglobin (HPFH), suggesting that the C CAAT box (or its surrounding sequences) may have a role in the developmental control of γ-globin genes.
Journal ArticleDOI
Fetal hemoglobin levels and beta s globin haplotypes in an Indian populations with sickle cell disease
TL;DR: Family studies showed that there is a genetic factor elevating Hb F levels dominantly in homozygotes (SS), and this factor appears to be related to the Asian beta(s) globin haplotype, and a mechanism for its action is discussed.
References
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TL;DR: In this article, a method for the separation of the α and β chains of human haemoglobin by chromatography on carboxymethyl-cellulose in 8 M -urea has been described.
Journal ArticleDOI
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TL;DR: The hypothesis is advanced that the resistant fraction in the hereditary hemolytic syndromes may represent a continued production of fetal pigment beyond the physiologic age limit and the appearance of the abnormal hemoglobins in the "acquired" disorders may indicate a reactivation of such a mechanism.
Journal ArticleDOI
Demonstration von Fetalem Hamoglobin in den Erythrocyten Eines Blutausstrichs
TL;DR: In this article, a Blutfarbstoff aus Erwachsenen-Erythrocyten schneller gelost wird als aus Neugeborenenerythrocyten.
Journal ArticleDOI
Demonstration of fetal hemoglobin in erythrocytes of a blood smear
Book ChapterDOI
[52] Sequential degradation plus dansylation
TL;DR: This chapter describes the procedure and applicability of the sequential degradation plus dansylation method, used extensively in several investigations of the amino acid sequences of proteins, notably that of α-chymotrypsin.