Wiener klinische Wochenschrift
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Wien. Klin. Wochenschr. · Nov 1983
Case Reports[Initial description of hemoglobin D Punjab in an Austrian family].
Haemoglobin D Punjab was detected in a slightly overweight, but otherwise healthy pregnant woman when she was tested for gestational diabetes within the framework of a screening programme. Chromatographic evaluation of the haemolysate by high-pressure liquid chromatography (HPLC) revealed an unusual "splitting" of the A1 peak into two minor peaks. A diabetes-independent haemoglobin variant was suspected and further investigations, including electrophoresis, purification and sequential analysis of the tryptic peptide, identified the abnormal haemoglobin as haemoglobin D Punjab (beta 121 Glu-Gln). ⋯ An investigation of 6 out of 7 living members of the family was undertaken. In 3 instances haemoglobin D Punjab was confirmed by HPLC and electrophoresis. The investigation of the family is currently being expanded to include a total of five generations.
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Wien. Klin. Wochenschr. · Nov 1983
[Non-enzymatic glycosylation of hemoglobin and serum protein in children with galactosemia].
Non-enzymatic galactosylation has been investigated by in vitro incubation of red cell haemolysate, a HbAo-preparation and of GBM of healthy children. The effects of non-enzymatic galactosylation of haemoglobin has been studied by high pressure liquid chromatography, the effects of GBM galactosylation by immunoelectrophoresis. Subsequently, the occurrence of elevated values for HbAIa-c and GSP was evaluated in 14 galactosaemic children (11 transferase deficiency, 3 galactokinase deficiency), as well as urinary acid glycosaminoglycae excretion and GBM immunoelectrophoretic mobility in 6 of these 14 children measured. ⋯ After exclusion of significant non-enzymatic glucosylation by measuring postprandial blood glucose values the galactosaemic children showed significantly increased values for HbAIa-c (8.85 +/- 2.0% versus 7.7 +/- 0.3%; p less than 0.02), for GSP (0.43 +/- 0.13 mmol 5-HMF/mg protein versus 0.32 +/- 0.07 mmol 5-HMF/mg protein; p less than 0.005) as well as for urinary acid glycosaminoglycane excretion (45.3 +/- 23.4 micrograms/mg kreatinine versus 9.9 +/- 2.3 micrograms/mg Kreatinine; p less than 0.01). 3 out of the 6 children showed alpha 1-immunoelectrophoretic mobility of GBM antigens which was found also after incubation of GMB with galactose. The other 3 children had alpha 2-immobility, which was found in the healthy controls as well as in the control incubations. The impact of galactose on increased non-enzymatic glycosylation in children with galactosaemia as well as the significance of this finding for diagnostic purposes or for clarifying pathophysiological aspects of the disease remains to be studied further.