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  • 1
    Electronic Resource
    Electronic Resource
    The frequencies of Hbs S and C in Georgia and South Carolina (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 102-105 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01213106
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular characterization of β-thalassemia in Hungary (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 385-387 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have identified seven different β-thalassemia mutations and one δβ-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G→A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codonATG→GTG) was identified as an independent mutation because of the absence of known polymorphisms in the β-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a β°-thalassemia heterozygosity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01247340
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  • 3
    Electronic Resource
    Electronic Resource
    THE RATIO OF Gγ AND Aγ CHAINS OF THE HEMOGLOBIN F SYNTHESIZED BY BFU-E-DERIVED COLONIES FROM BLOOD OF SUBJECTS WITH β+ THALASSEMIA AND RELATED HEMOGLOBINOPATHIES (1980)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 344 (1980), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1980.tb33666.x
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  • 4
    Electronic Resource
    Electronic Resource
    HEMOGLOBIN F IN β THALASSEMIA AND RELATED CONDITIONS (1980)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 344 (1980), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1980.tb33665.x
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  • 5
    Electronic Resource
    Electronic Resource
    Hb F in sickle cell anemia (1993)
    Springer
    Cellular and molecular life sciences 49 (1993), S. 16-27 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01928784
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  • 6
    Electronic Resource
    Electronic Resource
    The in vivo expression of the globin genes of theβ cistron in γ-,δ-, andδβ-thalassemia heterozygotes (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 167-170 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01984958
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  • 7
    Electronic Resource
    Electronic Resource
    Organization of α-chain genes among Hb G-Philadelphia heterozygotes in association with Hb S, β-thalassemia, and α-thalassemia-2 (1982)
    Springer
    Biochemical genetics 20 (1982), S. 689-701 
    Details
    ISSN: 1573-4927
    Keywords: Hb α-chain genes ; molecular hybridization ; Hb G-Philadelphia ; α-thalassemia-2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract The percentages of the α-chain variant Hb G-Philadelphia (Hb G) or α2 68 Asn→Lysβ2 were evaluated in 84 adult and 18 newborn heterozygotes. These included members of three families who were studied in more detail by nucleic acid hybridization techniques. The adult heterozygotes fell in two categories, one with a higher proportion of Hb G [46.5±1.0% (SD), N=21] and another with lower values (33.9±3.4%, N=63). Among the newborn heterozygotes, two babies fell in the category with the higher proportion of Hb G while 16 babies gave values between 25 and 34%. Studies of α-chain gene organization on the parents of one neonate with a Hb G level of 27% at birth and 37% at 8 months excluded the presence of chromosomes with triplicated α-chain genes which could lead to the α0αG/ααα genotype. Rather, these studies on five Hb G heterozygotes from three families confirmed the linkage between Hb G and a specific type of α-thalassemia-2 associated with the presence of a 16-kbp Bgl II fragment which most probably carries the αG locus since it has been found in 19 Hb G heterozygotes studied to date. The presence of an α-thal-2 heterozygosity and three α-chain genes (α0αG/αα) was confirmed among Hb G heterozygotes with lower proportions of this variant. It is likely that the even lower values found in some newborn could arise through defective assembly of αG-γ dimers. The presence of an α-thal-2 homozygosity and two active α-chain genes, one on each chromosome (α0αG/α0α), was confirmed among heterozygotes with the higher proportion of Hb G. One of each of these categories was present in each of the three families investigated. This type of variability in the number of active α-chain genes due to a heterozygosity or a homozygosity for α-thalassemia-2 explains the trimodality of Hb S percentages among heterozygotes and the atypical hematological or biosynthetic features among patients with β-thalassemia and sickle-cell syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00483966
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  • 8
    Electronic Resource
    Electronic Resource
    Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gγ and Aγ types of γ chain (1984)
    Springer
    Biochemical genetics 22 (1984), S. 21-35 
    Details
    ISSN: 1573-4927
    Keywords: hereditary persistence of fetal hemoglobin ; different types of HPFH ; Gγ:Aγ ratio ; restriction endonucleases ; DNA ; in vitro chain synthesis ; family data
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Restriction endonuclease analyses of DNA from one Black GγAγ-HPFH homozygote and four Black and one Indian GγAγ-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the δ and β genes. Two of the types are comparable to those characterized previously, but the third, which is present in the Indian heterozygote, shows a distinct difference in the size of the deletion. The 5′ end point of the deletion in this type III GγAγ-HPFH extends 0.5–1.0 kb beyond the 5′ end point of one of the Black types of HPFH (type I). Each of the three types is associated with a distinct ratio between the Gγ and the Aγ chains, an observation supported by family data. The highest ratio is found in the heterozygote with the Indian type III GγAγ-HPFH, with 69.3% Gγ chains, while the averages for the other types were 50.7% Gγ (type I) and 32.3% Gγ (type II).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00499284
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  • 9
    Electronic Resource
    Electronic Resource
    α-Thalassemia and the production of different α chain variants in heterozygotes (1981)
    Springer
    Biochemical genetics 19 (1981), S. 487-498 
    Details
    ISSN: 1573-4927
    Keywords: Hb α chain variants ; α-thalassemia ; Hb synthesis ; Hb genetics ; posttranslational control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract The production of five α chain variants (Hb G-Georgia, Hb St. Luke's, Hb Lloyd, Hb Montgomery, and Hb G-Philadelphia) in heterozygotes was evaluated through hematological observations, hemoglobin quantification, and biosynthetic studies. All heterozygotes for Hb St. Luke's and Hb Lloyd and most heterozygotes with Hb G-Georgia and Hb Montgomery had normal hematology and average σα/β values of about 1.1. They were assigned a normal genotype (ααG/αα), although the proportions of Hb St. Luke's and Hb G-Georgia were low (10 to 13%) and those of Hb Lloyd and Hb Montgomery twice as high (20%). Data from short-term incubations confirmed this genotype for some of these heterozygotes. Isolated Hb St. Luke's and Hb G-Georgia gave low αG/β values (0.2 and 0.3) indicating that these Hb variants were defective at the level of Hb assembly. Isolated Hb Montgomery and Hb G-Philadelphia, however, gave higher αG/β values of 0.6 and 0.8, respectively. A second type of variability existed among Hb G-Georgia (20 vs. 13%), Hb Montgomery (28 vs. 20%), and Hb G-Philadelphia (47 vs. 34%) heterozygotes, in whom the levels of Hb G differed. The occurrence of higher levels of these three α chain heterozygosities was associated with hematological or biosynthetic evidence of a mild or moderate α chain deficiency due to an α-thalassemia-2 heterozygosity (ααG/α0α or α0αG/αα) or a homozygosity (α0αG/α0α), respectively.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484621
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  • 10
    Electronic Resource
    Electronic Resource
    An unusual phenotypic expression of Hb-Leiden (1982)
    Springer
    Biochemical genetics 20 (1982), S. 1175-1187 
    Details
    ISSN: 1573-4927
    Keywords: Hb-Leiden ; high-performance liquid chromatography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract After a boy of Mexican-American descent became jaundiced during treatment of a serious urinary tract infection with an oxidant drug, an extensive hematological examination was made. The important finding was the presence of Hb-Leiden to the extent of less than 3% or about a tenth of the usual percentage. Although inclusion bodies are present in the erythrocytes at all times, his hematological parameters have remained normal. The genetic basis for the unusually small amount of Hb-Leiden in the propositus may be due to the Hb-Leiden gene in an anti-Lepore configuration, that is, and Hb-Leiden gene in cis to the normal β and δ genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00498941
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