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  • Title: Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia.
    Author: Alfinito F, Calabro V, Cappellini MD, Fiorelli G, Filosa S, Iolascon A, Miraglia del Giudice E, Perrotta S, Migliorati R, Vallone D.
    Journal: Br J Haematol; 1994 May; 87(1):148-52. PubMed ID: 7947239.
    Abstract:
    We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Segregation of the two defects was documented in both families, who had different molecular abnormalities for both HS and G6PD deficiency. In one family the propositus had a reduced level of spectrin and G6PD Seattle (282Asp-->His). In the other family the propositus had a band 3 abnormality and was heterozygous for G6PD Mediterranean (188Ser-->Phe). From a comparison of clinical and haematological findings in family members with either or both abnormalities we conclude that in one case the two defects exhibited a synergistic effect, resulting in a severe chronic haemolytic anaemia; whereas in the other the association was simply additive.
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