The G6PD gene...

provides instructions for making an enzyme called Glucose-6Phosphate Dehydrogenase.

The Glucose-6-Phosphate Dehydrogenase enzyme which is active in virtually all types of cells, is involved in the normal processing of Carbohydrates. And plays a critical role for red blood cells by protecting it from damage and premature destruction by reactive toxic oxygen species that are normal by-products of cellular functions.

The G6PD gene is located in the terminal region of the long arm of the X chromosome (Xq28)

HUMAN CHROMOSOMES 46 Total (23 pair) 22 pair are perfectly matchedautosomes. Remaining pair- sex chromosomes. Human: XX normal female XY normal male

46 chromosomes

The G6PD deficiency arises because of mutations in the G6PD gene.

 It is X-Linked Recessive

 In females with G6PD deficiency, one of their X-Chromosome is normal and the other is enzyme deficient. G6PD deficiency is predominantly a male syndrome. Males possess only one copy of the gene, thus they are either normal or G6PD deficient

CLASSIFICATION

The World Health Organization classifies G6PD genetic variants into five classes, the first three of which are deficiency states.
1. Severe deficiency (<10% activity) with chronic (nonspherocytic) hemolytic anemia

2. Severe deficiency (<10% activity), with intermittent hemolysis

3. Mild deficiency (10-60% activity), hemolysis with stressors only 4. Non-deficient variant, no clinical sequelae 5. Increased enzyme activity, no clinical sequelae