Red cell glucose-6-phosphate dehydrogenase deficiency in Turkey
Çiğdem Altay, Fatma Gümrük



"The G6PD variants have been divided into five classes according to the level of enzyme activity as follows: Class 1 - complete deficiency or very severe reduction in the enzyme level causing mildsevere chronic congenital nonspherocytic hemolytic anemia; Class 2 - severe enzyme deficiency (less than 10%); Class 3 - moderate to mild enzyme deficiency (10-60%); Class 4 - very mild or no enzyme deficiency; and Class 5 - increased enzyme activity. It was shown that the mutations causing chronic nonspherocytic hemolytic anemia are clustered near the carboxy end of the enzyme, in the region between amino acids 362-446, while most of the clinically mild mutations are located at the amino end of the molecule. It was stated that the majority of the Class 1 G6PD variants have the mutations surrounding either the substrate or NADP binding site."

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