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Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydroge...
Manco, L; Pereira, J; Relvas, L; Rebelo, U; Crisóstomo, AI; Bento, C; Ribeiro, MLGlucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp d...
Distribution of AMY2 polymorphism in S. Tomé and Príncipe (West Africa)
Manco, L.; Trovoada, M.; Abade, A.; Amorim, A.Abstract The genetic polymorphism of AMY2 was studied in the population of S. Tom and Prncipe (West Africa) using agarose gel electrophoresis. AMY2 frequencies are reported for the first time in a subSaharian population. The gene frequencies found were: AMY2*1=0.948, AMY2*3=0.052 (N=173). ; http://dx.doi.org/10.1007/BF02447634
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