G6PD Enzyme
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April 5, 2005 at 6:45 pm #5304KP2112Member
I was reading a journal article (The American Society of Hemotology) about MDS and I came across some interesting information. They have associated the X-linked G6PD enzyme to all cases of MDS. Some abnormality occurs on the X gene either genetic or acquired which creates a G6PD deficiency. When this occurs, there is the inability of specific cells to regenerate NADPH which is necessary for proper hemolytic processes to be carried out.
G6PD deficiency may not affect a person until they are exposed to certain toxins, oxidative medications or fava beans. When any one of these enters the blood, hemoglobin becomes denatured, thus destroying its function as the principle oxygen carrying molecule. In normal cells NADPH would remove such oxidants.
If you want more information about this, please go to another site I found: rialto.com/g6pd/ go to the homepage and they have a brochure you can download and a list of medications not to take.
Kind Regards,
Karen P.April 5, 2005 at 7:46 pm #5305frankParticipantvery intreasting artical, especially it can explain why MDS is more common in male. just wonder how can you find out you are G6PD deficiency, especially my twin have a servere jaundice after birth(which is another indication of the the deficiency), and one of them have to get blood transfusion for it. are there any place can test it?
FrankApril 5, 2005 at 8:02 pm #5306KP2112MemberYes you are right, neonatal jaundice is due to G6PD enzyme deficiency. The deficiency is also more common in males because they only have 1 X chromosome where as with females there are two and the other X chromosome becomes the dominant one and compensates for the G6PD deficiency.
According to a chart I have, if you have the deficiency and your wife does as well, or if either one of you has it as a dominant chromosome, there will be a 50% chance your daughters will have it. If one of you has it or your wife is a carrier of the chromosome, your daughters have a 25% chance of having G6PD deficiency.
If you are concerned with this and whether your daughters will inherit it, they can do a test at the Doctors and determine if there is a deficiency. Just explain your concerns.
Kind Regards,
KarenApril 5, 2005 at 8:25 pm #5307frankParticipanthow can we test ourself, just ask my hemo doctor? do they need special lab for doing it? since i am MDS patient, and i still suspecious the cause on it, and if it is the G6PD enzyme deficiency, it may be controled by some drugs?
the artical in your link doen’t tell a lot on MDS related issue, it maybe possible you post the original article which talking about the reseach???thanks for sharing the information, it made me more worry about the generic issue on the stupid disease… Hope it is not…
Frank
April 5, 2005 at 8:44 pm #5308KP2112MemberYes just ask your Doctor about G6PD deficiency and if he thinks there is a concern to be tested, I sure he/she will.
Yes, G6PD deficiency can be controlled and over 400 million people in the world have it. Although the deficiency has been linked to MDS it has not been established as a cause, as there are only approximately 6,000-12,000 new cases of MDS in the U.S. each year. It is one more link in establishing the genetics involved in MDS.
I wouldn’t worry about your girls inheriting MDS from you. For one, personally, from all the reading I have done (medical journals), only in rare cases is MDS hereditary. Second, your girls have two X chromosomes. Third, from what I have read about G6PD deficiency in newborns, if jaundice persists, the Doctors will suspect a deficiency, where as your girls are fine.
Please go to this link if you like. It is in medical terms but it may be helpful.
http://www.asheducationbook.org/cgi/cont…lcode=bloodbookKind Regards,
Karen P.April 5, 2005 at 9:05 pm #5309KP2112MemberFrank this is from the article I was reading.
[Models for the development of sporadic MDS]
While genetic and familial mapping studies have clearly demonstrated that mutations in a specific gene, such as AML1, NF1, or genes mediating DNA repair, can predispose to the acquisition of secondary cytogenetic abnormalities and MDS, it is likely that such inherited genetic mutations will account for only a minority of MDS cases. How the majority of “sporadic” MDS cases arise is as yet undetermined. However, epidemiologic case-control studies of MDS (and related AML) have demonstrated associations between MDS and smoking, exposure to chemical compounds (particularly petroleum products and diesel derivatives, exhausts, organic solvents, fertilizers, and nitro-organic explosives), semi-metals (arsenic and thallium), stone dusts (such as silica), and cereal dusts.
Kind Regards,
Karen P.April 6, 2005 at 1:49 am #5310shirlsgirlMemberThanks Karen, interesting reading. Jody
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