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 1 variants described so far, we can observe that a low inhibition constant (K i) for NADPH, a higher K m for substrates and a reduced thermostability are common.
| Original language | English |
|---|---|
| Pages (from-to) | 39-55 |
| Number of pages | 17 |
| Journal | Best Practice and Research: Clinical Haematology |
| Volume | 13 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2000 |
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Keywords
- Chronic anaemia
- Chronic non-spherocytic haemolytic anaemia
- DNA mutations
- Glucose-6-phosphate dehydrogenase
- Glucose-6-phosphate dehydrogenase variants
- Haemolysis
ASJC Scopus subject areas
- Cancer Research
- Oncology
Cite this
Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants. / Fiorelli, Gemino; Martinez Di Montemuros, Franco; Cappellini, Maria Domenica.
In: Best Practice and Research: Clinical Haematology, Vol. 13, No. 1, 2000, p. 39-55.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants
AU - Fiorelli, Gemino
AU - Martinez Di Montemuros, Franco
AU - Cappellini, Maria Domenica
PY - 2000
Y1 - 2000
N2 - 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 1 variants described so far, we can observe that a low inhibition constant (K i) for NADPH, a higher K m for substrates and a reduced thermostability are common.
AB - 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 1 variants described so far, we can observe that a low inhibition constant (K i) for NADPH, a higher K m for substrates and a reduced thermostability are common.
KW - Chronic anaemia
KW - Chronic non-spherocytic haemolytic anaemia
KW - DNA mutations
KW - Glucose-6-phosphate dehydrogenase
KW - Glucose-6-phosphate dehydrogenase variants
KW - Haemolysis
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UR - http://www.scopus.com/inward/citedby.url?scp=0034430020&partnerID=8YFLogxK
U2 - 10.1053/beha.1999.0056
DO - 10.1053/beha.1999.0056
M3 - Article
C2 - 10916677
AN - SCOPUS:0034430020
VL - 13
SP - 39
EP - 55
JO - Best Practice and Research in Clinical Haematology
JF - Best Practice and Research in Clinical Haematology
SN - 1521-6926
IS - 1
ER -