Ethnicity Based Genetic Screening For G6PD Can Save LivesPreventive healthcare
G6PD deficiency is a very common human enzyme genetic disorder. This condition is present in over 10% of African American males; 20% in Thai people and 20% in Indians. Yet most doctors do not routinely screen the disproportionately affected groups for this condition. Living with this deficiency may cause anemia and a host of other chronic and acute health problems like back pain, exhaustion, cardiac problems, diabetes and more. Doctors then treat these diseases sometimes with medications which create serious health problems for those like myself with this genetic condition. If this disease were detected earlier, these issues could be avoided.
Last week I had what I can only describe as a life changing diagnosis. I found out that I had a genetic condition called glucose-6-phosphate dehydrogenase (G6PD) deficiency.
My lab results showed that I had 2 units of G6PD per gram of hemoglobin. The normal range for adults is around 8.8-13.4 units of G6PD per gram of hemoglobin. So my 2 units of G6PD was pretty low!
I had no clue what G6PD was so I took the time to get educated really fast. And I discovered a few things which I will share with you.
G6PD is a very important enzyme that is found in all the cells in my body. This enzyme makes my red blood cells work properly. If my red blood cells don't work right, it will be difficult for them to take enough oxygen to the organs in my body like my brain, kidney, heart etc.
Since I don’t have enough of this enzyme, my blood cells may also be destroyed if I am exposed to certain things like moth balls, or certain foods like legumes (especially fava beans), soy products, blueberries, tonic water, red wine or certain medications. Medications like aspirins, certain antibiotics, anti-malaria drugs and a bunch of other ones I found here may also cause my red blood cells to be destroyed.
However, if I stay away from these triggers - those things I am not supposed to eat or be exposed to - I can lead a normal life. But if I don't know I have this condition, I cannot avoid the triggers and my health will deteriorate despite my good efforts to stay healthy.
I have struggled with many of the symptoms of G6PD deficiency during my lifetime like exhaustion, anemia and back pain. And my doctor only recently found out my condition by requesting the G6PD test when she knew I was interested in getting vitamin C infusions to correct my vitamin C deficiency. She wanted to be safe and make sure I did not get what she referred to as hemolysis. (And yes i looked that up too and she was referring to the destruction of my blood cells). Turns out if I have G6PD deficiency, too much ascorbic acid (vitamin C) can cause severe health problems.
I consider myself fortunate to find a doctor who practices proactive health care and she was able to diagnose my problem.
Now, I have purchased a G6PD medical bracelet to reduce the likelihood of treatment errors due to my medical condition. Just imagine if I have an emergency and the doctor prescribed me drugs that killed my red blood cells because he was unaware of my condition? That could be fatal. I also know what foods to avoid etc. I only wished I knew that 53 years ago. Many of my symptoms may not have existed.
And I wonder how many other people have this deficiency and are not aware they have it. They may be totally unaware of the triggers. Despite their brilliant efforts to stay healthy, they may just not feel well and have no clue why.
This is why I believe that routine testing should be done on the groups that are disproportionately affected. Not only will early testing save lives, but it will save medical expenses as well. Early testing would truly be preventive healthcare.
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