Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in over 400 million people world wide. In a small number of cases, G6PD deficiency can lead to mild-to-severe chronic haemolysis, which is further exacerbated by oxidative stress. Such G6PD variants have been described all over the world and are responsible for chronic non-spherocytic haemolytic anaemia (CNSHA). To date 61 G6PD molecular variants associated with CNSHA have been identified, only some of which can cause the severe reduction in stability of the red blood cell enzyme. The distribution of the different mutations shows a predominance of small mutational events, and many have been found repeatedly in different parts of the world. By revisiting the 61 class I variants described so far, we can observe that a low inhibition constant (Ki) for NADPH, a higher Km for substrates and a reduced thermostability are common

Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants / G. Fiorelli, F. Martinez di Montemuros, M.D. Cappellini. - In: BAILLIERE'S BEST PRACTICE IN CLINICAL HAEMATOLOGY. - ISSN 1521-6926. - 13:1(2000 Mar), pp. 39-55.

Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants

G. Fiorelli
Primo
;
M.D. Cappellini
Ultimo
2000-03

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in over 400 million people world wide. In a small number of cases, G6PD deficiency can lead to mild-to-severe chronic haemolysis, which is further exacerbated by oxidative stress. Such G6PD variants have been described all over the world and are responsible for chronic non-spherocytic haemolytic anaemia (CNSHA). To date 61 G6PD molecular variants associated with CNSHA have been identified, only some of which can cause the severe reduction in stability of the red blood cell enzyme. The distribution of the different mutations shows a predominance of small mutational events, and many have been found repeatedly in different parts of the world. By revisiting the 61 class I variants described so far, we can observe that a low inhibition constant (Ki) for NADPH, a higher Km for substrates and a reduced thermostability are common
Chronic anaemia; Chronic non-spherocytic haemolytic anaemia; DNA mutations; Glucose-6-phosphate dehydrogenase; Glucose-6-phosphate dehydrogenase variants; Haemolysis
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/219495
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