The pattern of joint pain due to iron overload

Andy,

My tests/reports rarely make sense. I tested b12 and Vit D few years back, but it was too high. Vit D showed above 100, toxic levels. Which i doubt is true.

Same happens with my iron tests, its either overloading or too low. Like everything seems to float in my system without getting used. Nowadays I can never reach hb 10+, i'm stuck at levels below 9.5. Sometimes as low as 8.

I still take a calc, D, mg supplement, and a multi with low iron. But i'm still ghostly pale.

Hi Andy,

23andme genome sequencing is very good in my opinion. I have ordered those kits many times. before FDA's ban on diagnostic features and after as well.
Please let me know, I will share my 23andme account cridentials to you.
some days back FDA UK and Canadian FDA has allowed 23andme to operate with dignostic way. I wish american FDA goes through it faster.
Its not easy to find perfect HLA match in extended family still i am trying for the best chance.

Best regards.

I have trouble with 23and me "diagnosing" genetic disorders without any knowledge pf the possibilities. When a beta thal minor is told they have 6 different thal mutations, when only one is possible, I cannot respect the findings. When patients all over the world are told they have a thal mutation found only in a very limited population in the far east, I also cannot respect the findings. I feel that 23andme has a long way to go before they can be considered credible.

Andy,
yes you are right they have long way to go. and i think they are improving, they have doubled the reading points in just one year, if biotechnology keeps the same pace we can see a $100 full genome sequence probably in 7-8 yrs. Along with HLA cross match it helped me in other ways, i am able to know that along with thal i am also a carrier for hemochromatosis and my son as well. (Thal with hemochromatosis!! god has no mercy ). It also helped me to know other 3 non married cousin from extended family who are carriers. What i hate most is that they send kits only to US and EU, it is something to do with regulations just like exjade. In India reliance life science takes $125 for detecting 10 points on HLA gene where as these guys take $99 for detecting 1milion points, on entire genome.
In fact i tried to setup a low cost DNA-HLA testing lab in India to help myself and other thalasemics but we closed it because we are heavily dependent on reagents from US. Will try it again in better way after some time. If i have to test 100 extended family members for HLA search spending $12,000 within 2 yrs is too much for an average Indian.

Jay,

The results I have seen reported from the inexpensive DNA analysis companies have not been accurate regarding thalassemia. They can tell that a thal gene is there, but narrowing down exactly what has been their failing. Beta minors have been told they have multiple beta mutations and that, of course is not possible.

Andy,
"Beta minors have been told they have multiple beta mutations and that, of course is not possible."
But there are multiple mutations which can cause beta carrier status and major as well, not just one although one mutation might be most prevalent or more symptomatic. (Something i may have misunderstood).
Displayed bellow my data and their technical report about thal and thal like situations (himoglobinopathy) one can search for the gene names mentioned. Interpreting their results without technical report is not good.
Highlighted single mutation is what i have but my son has two copies of mutation on three genes (SNPs) (atleast).
Certainly i am not promoting 23andme but let me mention here, out of 60 test personnel which I test with them none of the findings are wrong (it is "highly" possible that they have skipped many more because it is "not a full genome sequence")
Full genome sequence costs ~$50,000. I hope Bluebird makes full genome sequence public before and after genetheropy to let us know if it leads to another mutation.

23andme even admits that they can show only 14 of the hundreds of thal mutations. And there are far more than the 200 they state. But a minor can only have ONE of these, so when they give someone a list of 6 mutations, they haven't really told that person much of anything. There are only two beta globin genes. Minors have one affected and majors have two affected. Nothing else is possible. You can easily be diagnosed as a thal minor by hemoglobin electrophoresis. I don't really see value to minors knowing their genotypes. In no way will this be of value to a patient in terms of his/her own health.

The FDA is correct in limiting 23andme. They are only equipped to tell people which genes they may carry and in no way does 23andme have the expertise to discuss ANY condition, and thus the FDA correctly has limited their activities in the US.

I see no value in minors learning their genotype and to be honest, it makes very little difference to majors either. The phenotype is what has to be treated. Two patients with seemingly identical genotypes can have very different outcomes, depending on other factors that will not be revealed by simple testing.

ya in a way yes at the end it has to go towards some kind of transplant, but its better informed way.
By the way these huge benefits are over and above HLA test which far accurate, deeper and at higher resolution than the general 10 point HLA A,B,C,DR,DQ.
One day 23andme like data will be used in making personalized chelator and knowing the exact dosage of desfaral; FDA has approved nearly thirty genetic markers to calculate respective drug response; then you will appreciate me.