سؤال محيرني عن الG6PD

[el7assas-77]

How can we know if the patient with G6PD deficiency is a carrier or affected

[wwooooww]

اخي العزيز بالنسبه لإنزيم ال G6PD فالذكر دائما يكون مصاب بالمرض والسبب بأن الجين المسبب لهذا المرض يقع على الفاكتور X الانثوي فقط ولكي تتضح الصوره الرجل يحمل الكرموسوم XY والانثى XX فاذا كانت ال X في الذكر تحمل الجين المسبب لنقص هذا الانزيم فإنه يصاب اما الانثى اذا كانت تحمل على X واحده فإنها تكون حامله للمرض اما إذا كانت تحمل على كلا ال XX فإنها تكون مصابه .

[el7assas-77]

تسلم والله... :sm185:

But actually i want to know the test we are using to know this
What method we are following to know if a patient is a carrier or affected

I hope you don't tell me to study the family history, because in some situation the parents died and it will be difficult to detect it

[soma]

A carrier may not be able to be detected through G6PD activity testing
the carrier 'll be just female
u can know by studing the family history as u just said

[antivirus]

usually the Females which is heterozygous for G6PD deficiency are particularly difficult to diagnose by enzymatic assays, but now that the nucleotide substitutions of many G6PD-deficient isoenzymes have been established, molecular diagnostic methods can be used for the diagnosis of females who are heterozygous for common variants.

[el7assas-77]

شكرا شكرا شكرا
وهذا العشم