title: [Hemoglobin Sydney--alpha beta 2 67 (E11) Val-Ala and hemoglobin Olomouc alpha 2 beta 2 86 (F 2) Ala-Asp in Czech families. DNA sequence analysis for a more accurate diagnosis of hemoglobinopathies].
abstract: The paper demonstrates the importance of sequence analysis of DNA for the identification of Hb-Sydney [alpha2-beta2 67 (E11) Val-Ala]. The latter was considered erroneously, based on results of biochemical analyses to be Hb-M-Milwaukee [alpha2 beta2 67 (E 11) Val-Glu]. With the unstable Hb-Sydney correspond also phenotypical manifestations of disease (haemolytic anaemia with Heinz bodies in red blood cells). Sequence analysis of DNA of patients with Hb-Olomouc [alpha 2 beta 2 (F 2) Ala-Asp] revealed that mutation of Ala-Asp in position 86 (F 2) of the beta globin chain is coded by mutation C-->A (GCC-GAC).
authors.affiliation: Hemato-onkologická klinika FN a LF UP, Olomouc.
authors.forename: K
authors.initials: K
authors.lastname: Indrák
authors.forename: V
authors.initials: V
authors.lastname: Divoký
authors.forename: E
authors.initials: E
authors.lastname: Kynclová
authors.forename: M
authors.initials: M
authors.lastname: Divoká
authors.forename: R
authors.initials: R
authors.lastname: Melichárková
authors.forename: J
authors.initials: J
authors.lastname: Indráková
mesh_terms: D018153:Czech Republic; D003951:Diagnostic Errors; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017422:Sequence Analysis, DNA
chemical_list: D006455:Hemoglobins, Abnormal; C053463:hemoglobin Olomouc
vernacular_title: Hemoglobin Sydney--alpha 2 beta 2 67 (E11) Val-Ala a hemoglobin Olomouc alpha 2 beta 2 86 (F 2) Ala-Asp v ceských rodinách. Prínos sekvenacní analýzy DNA pro zpresnĕní diagnostiky hemoglobinopatií.