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 heretozygous 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.

Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia / F. Alfinito, V. Calabro, M.D. Cappellini, G. Fiorelli, S. Filosa, A. Iolascon, E. Miraglia Del Giudice, S. Perrotta, R. Migliorati, D. Vallone. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - 87:1(1994 May), pp. 148-152.

Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia

M.D. Cappellini;G. Fiorelli;
1994

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 heretozygous 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.
chronic haemolytic anaemia; G6PD deficiency; G6PD Mediterranean; G6PD Seattle; hereditary spherocytosis
Settore MED/09 - Medicina Interna
mag-1994
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/226556
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