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Wien. Klin. Wochenschr. · Nov 1983
Case Reports[Initial description of hemoglobin D Punjab in an Austrian family].
- A Pollak, A Lischka, K Bauer, E O Ogunyemi, R Brehm, H Aschauer, and G Braunitzer.
- Wien. Klin. Wochenschr. 1983 Nov 25; 95 (22): 781785781-5.
AbstractHaemoglobin 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). This is the first report of this haemoglobin variant in Austria. Various possible modes of geographical spreading of the gene from Punjab (India) are discussed, the land-route via Turkey being the most favourable hypothesis in this case. 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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