Vnitr Lek 1998, 44(6):347-349
[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].
- Hemato-onkologická klinika FN a LF UP, Olomouc.
Klíčová slova: Czech Republic; Diagnostic Errors; Hemoglobinopathies, diagnosis, ; Hemoglobins, Abnormal, genetics, ; Humans; Sequence Analysis, DNA
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).
Keywords: Czech Republic; Diagnostic Errors; Hemoglobinopathies /diagnosis/; Hemoglobins, Abnormal /genetics/; Humans; Sequence Analysis, DNA
Zveřejněno: 1. červen 1998 Zobrazit citaci
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Indrák K, Divoký V, Kynclová E, Divoká M, Melichárková R, Indráková J. [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]. Vnitr Lek. 1998;44(6):347-349.