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  • 1
    Electronic Resource
    Electronic Resource
    Prenatal Diagnosis of Homozygous αº-Thalassemia by an Immunological Method (1994)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 731 (1994), 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.1749-6632.1994.tb55769.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Hb Malmö [β-97(FG-4)His→Gln] leading to polycythemia in a Dutch family (1996)
    Springer
    Annals of hematology 73 (1996), S. 183-188 
    Details
    ISSN: 1432-0584
    Keywords: Key words Hb Malmö ; Hemoglobinopathies ; Abnormal hemoglobin ; Polycythemia ; Oxygen affinity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  We have examined six individuals from a two-generation Dutch family for a suspected hemoglobin (Hb) abnormality. The propositus presented with polycythemia and complained of persistent weakness, headache, and epistaxis. All family members initially showed a normal Hb-electrophoretic pattern, but on isoelectric focusing, three of them displayed a fast-moving band associated with high packed red cell volumes (PCV) and increased red blood cell count. The Hb mutant was analyzed at the DNA level by specific gene fragment amplification (PCR), followed by direct DNA sequencing, and the mutation was confirmed by restriction enzyme analysis. We found a C→G transversion (CAC→CAG) at codon 97 of the β-chain, which corresponded to the His→Gln amino acid substitution previously described as Hb Malmö. We report here the clinical history of the patient, the effects of phlebotomy treatment, and the effect of subnormal iron conditions on the erythropoietic recovery after phlebotomy. The mechanism responsible for the induction of the higher oxygen affinity is discussed, as are some aspects concerning the occurrence, pathology, treatment, and the genetic risk of Hb variants with high O2 affinity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050225
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G→T) mutation (1998)
    Springer
    Annals of hematology 77 (1998), S. 249-255 
    Details
    ISSN: 1432-0584
    Keywords: Key words Hemoglobin ; Thalassemia ; Dominant ; Hemolysis ; Ubiquitin proteolytic pathway
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Eight patients who were carriers of β-thalassemia induced by the cd121 (G→T) mutation are described in four nonrelated Dutch families. This mutant, which is considered rare and inherited in a dominant manner, is expressed in a different way among each of the four families and even among carriers of the same family. The symptoms vary from an hemolytic anemia of intermediate gravity with hepatosplenomegaly, inclusion bodies and erythroblastosis, to a mild anemia with minor hematological abnormalities. We report the analytical procedures used for the detection of the mutant, the hematological and clinical data of the four families and discuss the variable physiopathology of this molecular defect. We also compare the variation in fetal hemoglobin expression in relation to the haplotypes of the β-gene cluster and to the different hematological conditions. The presence of this rare mutant in four nonrelated Dutch families could derive from a single mutation or from multiple events. The existence of the four mutations in three different haplotypes suggests the occurrence of at least two independent events. The presence of five abnormal hemoglobins and the β-thalassemia defect on different haplotypes at cd121 also suggests a relatively increased rate of mutations at this particular site.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050453
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    Paper (German National Licenses)
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