title: Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method.
abstract: The paper reports the results obtained from the study of 949 patients examined for a suspected alpha- or beta-thalassaemia using a rapid modified method of in vitro biosynthesis determination. Part of the results have been evaluated in correlation with the different molecular defects, defects combinations and with the presence of abnormal haemoglobins. The validity of the method for diagnosis of thalassaemia and particularly for the analysis of complex defects combinations which may occur in multiethnic populations is illustrated. The technology of the modified method is thoroughly described and the influence of the factors interfering with the reliability of the experiments is discussed.
authors.affiliation: Department of Human and Clinical Genetics, Leiden University Medical Center, the Netherlands.
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: P
authors.initials: P
authors.lastname: Van Delft
authors.forename: D
authors.initials: D
authors.lastname: Batelaan
authors.forename: C L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: L F
authors.initials: LF
authors.lastname: Bernini
mesh_terms: D003937:Diagnosis, Differential; D005787:Gene Frequency; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D014644:Genetic Variation; D005914:Globins / Q000032:analysis* / Q000096:biosynthesis* / Q000235:genetics; D006450:Hemoglobin SC Disease / Q000175:diagnosis / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000378:metabolism; D009426:Netherlands / Q000453:epidemiology; D012156:Reticulocytes / Q000378:metabolism; D014316:Tritium; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D014316:Tritium; D005914:Globins; D007930:Leucine