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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...
Abnormal NK cell lymphocytosis detected after splenectomy: association with rep...
Granjo, E; Lima, M; Fraga, M; Santos, F; Magalhães, C; Queirós, ML; Moreira, I; Rocha, S; Silva, AS; Rebelo, I; Quintanilha, A; Ribeiro, ML; Candeias, JAbnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation. Granjo E, Lima M, Fraga M, Santos F, Magalhães C, Queirós ML, Moreira I, Rocha S, Silva AS, Rebelo I, Quintanilha A, Ribeiro ML, Candeias J, Orfão A. Department of Hematology, Hospital S. João, Porto, Portugal. npp46740@mail.telepac.pt Abstract W...
Severe hereditary spherocytosis and distal renal tubular acidosis associated wi...
Ribeiro, ML; Alliosio, N; Almeida, H; Gomes, C; Texier, P; Lemos, C; Mimoso, G; Morlé, L; Bey-Cabet, F; Rudigoz, RC; Delaunay, J; Tamagnini, GAbsence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept ali...
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