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  • 1
    ISSN: 1573-4927
    Keywords: fetal hemoglobin ; βo-thalassemia ; γ globin gene triplication ; γ globin gene deletion ; haplotypes ; silent β-chain variant ; F-Sardinia ; the AγT chain ; —Gγ—Gγ— and —Aγ—Aγ— arrangements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Fetal hemoglobin analysis and globin gene mapping have identified one type of βo-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The βo-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ75 Ile → Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the —GAγ— hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the —Gγ—AGγ—Aγ— triplication had polymorphic sites to be expected for this condition, being complimentary to the —GAγ— thalassemias. Of the two additional γ globin gene variations the —Gγ—Gγ— arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the —Aγ—Aγ— arrangement had a haplotype characteristic for that with the AγT mutation, which identified an —Aγ—AγT— arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val → Ile substitution at position β11, in five newborns was also reported.
    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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