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  • locus control region  (2)
  • HPFH homozgote  (1)
  • 1
    ISSN: 1573-4927
    Keywords: HPFH homozgote ; γ-chain type ; globin chain synthesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Two sons of a previously reported Ghanaian homozygote for the hereditary persistence of fetal hemoglobin (HPFH) (Ringelhann et al., 1970) also are HPFH homozygotes. In addition, another unrelated adult Ghanaian homozygote has been detected. All of these Ghanaian homozygotes as well as three American Black HPFH homozygotes have the G γ A γ type of HPFH with a G γ to A γ ratio of about 3:2, in contrast to an Asiatic Indian homozygote who has the G γ type. Globin chain synthesis in HPFH homozygotes is unbalanced, with a γ/α ratio of 0.6 or less, whereas it is balanced in heterozygotes according to most reports.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Cellular and molecular life sciences 49 (1993), S. 16-27 
    ISSN: 1420-9071
    Keywords: γ-Globin genes ; haplotypes ; α-thalassemia ; locus control region ; clinical expression ; hydroxyurea ; erythropoietin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have reviewed the methodology for an accurate quantitation of Hb F in the blood of patients with sickle cell anemia, values observed in hundreds of patients of different (racial or ethnic) backgrounds and with differences in severity of the disease, and the various factors that affect the level of Hb F. The latter include sex, age, genetic background or chromosomal haplotypes, variations in the sequences of the locus control region(s) 5′ to the ε-globin gene, and the presence of an α chain deficiency or α-thalassemia. Finally, a few remarks about agents effective in increasing the in vivo Hb F synthesis are also included.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1420-9071
    Keywords: In vivo ; cistron ; thalassemia ; heterozygotes ; enhancer ; locus control region ; in cis ; in trans
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract There is considerable evidence suggesting that the switch from γ to δ and β chain production after birth is due, in part, to silencing of the γ genes by stage-specific factors which bind to their promoters and to the competition from the adult (δ and β) genes for a common enhancer element located in the locus control region. As a consequence one can expect that the increased Hb F production in adults with hereditary persistence of fetal hemoglobin or δβ-thalassemia is directed mainly by γ-globin genes in cis to the deletion(s) responsible for these conditions. Here we review data on heterozygotes with γ-, δ-, or δβ-thalassemia, who also had anAγT mutation, in cis or in trans, which was used as a marker of γ gene expression. The results show that a deletion affecting adult β genes favors the expression of γ genes in cis, while the deletion of a single γ gene does not affect the expression of the β gene in cis but leads to a faster γ→β switch postnatally.
    Type of Medium: Electronic Resource
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