why G6PD A- presents with a milder form than G6PD Mediterranean ?

Question

why G6PD A- presents with a milder form of the deficiency whereas G6PD Mediterranean presents with a more severe form? in biochemistry point of view !! or any info u know!!

ya what is special in each RBC that can make them survive or lyses quickly ? mmm according to haplotype thing , actually i cant understand it

Answer 1

In G6PD A-, the enzyme is fully functional. The problem is that it is less stable, so it gets destroyed faster than the normal enzyme. So, new blood cells are fine, but the old ones have problems.

In G6PD Mediterranean, less of the enzyme is produced *and* the enzyme is less catalytically active. So even newly produced blood cells have problems.

I did a cursory search to see if I could find what structural and/or functional defects the mutations cause in the respective variants, but the field seems to be dominated by geneticists. All they talk about is the nucleotide changes in the gene, but not the amino acid changes in the protein. The info is probably out there somewhere, or I could figure it out if I really wanted to, but have to finish packing up all my worldly possessions since I'm moving tomorrow....

Answer 2

Risk factors for G-6-PD deficiency are being black, being male, or having a family history of G6PD deficiency (G6PD A) Such patients experience hemolysis quickly. But bone marrow produces rapidly fresh RBC which do not get lysed. Young RBC in maximum numbers partly explains the milder anemia.. Another type of this disorder ie G6PD can occur in whites of Mediterranean descent. This form is also associated with acute episodes of hemolysis. Episodes are longer and more severe than in the other types of the disorder.