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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1991), S. 413-415 
    ISSN: 1432-1076
    Keywords: Red blood cell indices ; Heterozygous β-thalassaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of β°-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive increase with age parallelling the normal developmental trend. The Hb increase with age was due to a progressive rise in the Hb content per cell, the number of RBC remaining nearly constant. MCV and MCH values also increased with age with a pattern parallel to normal control. Because of the high prevalence of α-thalassaemia in the Sardinian population, to which all the subjects investigated belong, the 3rd MCH-MCV percentile curves of normal overlap the 97th curve of β-thalassaemia heterozygotes. The HbA2 levels, however, were always increased as compared to normal. These results confirm in children than screening for heterozygous β-thalassaemia in populations with a high incidence of α and β-thalassaemia by MCV-MCH determination may overlook a sizeable proportion of β-thalassaemia carriers. The knowledge of the extent of variation of RBC indices of β-thalassaemia heterozygotes during infancy, childhood and adolescence, is very useful for the evaluation of a child presenting with a mild microcytic anaemia.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Key words Hyperbilirubinemia ; Neonatal jaundice ; Glucose-6-phosphate dehydrogenase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Current Opinion in Genetics & Development 1 (1991), S. 48-53 
    ISSN: 0959-437X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 445 (1985), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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