[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].
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).
Indrák
K
K
Hemato-onkologická klinika FN a LF UP, Olomouc.
Divoký
V
V
Kynclová
E
E
Divoká
M
M
Melichárková
R
R
Indráková
J
J
D018153:Czech Republic; D003951:Diagnostic Errors; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017422:Sequence Analysis, DNA
D006455:Hemoglobins, Abnormal; C053463:hemoglobin Olomouc
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.