ran my ftDNA through Promethease and got an alert.

ran my DNA monday, read the report when I woke up Tuesday, started looking into Beta Thalassemia then went through my raw DNA data to find out which mutation I have and found 6 heterozygous mutations, all listed as pathogenic in the NCBI's SNP database.

could this be what's been wrong with me all my life? I've always been fragile and tired. when I was younger I usually tested as borderline anemic, so I have a lifetime of having iron supplements pushed at me.

I'm 50. in the last couple of years, I've developed intense joint pain in my lower extremities and my heart hurts. I can't get any doctors to take it seriously. I've been telling them for years that I think something is very wrong with my body. I was very sick a few months ago with clear signs of infection and a swollen spleen and liver and they sent me home from the e-room with a diagnosis of "anxiety".

I've printed out my DNA data and some info on two of the mutations I have (IVS.I.5 (G>C) and IVSII.745 (C>G)) and dropped them at my doctor's office today, then came home and found my membership here was approved. started reading and kind of lost it emotionally. I'm not even sure what to do next.

There are only two beta globin genes, so it would be impossible to have 6 mutations. If you had two mutations, it would make you intermedia or major, both unlikely, as you have never been diagnosed intermedia and definitely are not a major.

I have zero confidence in the results people have been getting from these "mail order" labs. Every single result I've seen regarding thalassemia defies logic.

Mutations aside, as they have little significance for thal minors, do you have the results of any blood work? A CBC (complete blood count) and an iron panel of tests would be very helpful. The iron tests are needed to see if long term iron supplements have caused your iron levels to rise. If your iron levels are high, it could explain things like joint pain. An iron panel would include serum ferritin, serum iron and total iron binding capacity, TIBC.

Are you currently taking any supplements? Do you try to get plenty of fresh fruit and vegetables in your diet?

I may be using the wrong terminology. when I said 6 mutations, I meant  alleles. can multiple alleles make up one mutation?

I've never had a full panel iron, just ferritin.

yes, I've never been diagnosed with any blood disorder. my doc before my previous one started wondering if I had "mediterranean anemia" but my insurance changed before I could get tested and I had to fight with my old doc about everything. she has absolutely no knowledge about chronic pain conditions and kept telling me my fibromyalgia was "progressing", whatever that means :/

here are my last 6 blood panels, taken over the past 2 years:
Name Standard Range   09/27/12   10/17/12   10/19/12   02/27/13   11/26/13   01/10/14
Auto ABS Neut 1.50 - 8.00 X10'3   3.8   8.23   8.62   6.13   3.35   4.53
Auto ABS Baso 0.00 - 0.30 X10'3   0.02   0.03   0.02   0.03   0.02   0.02
Auto % Baso 0.0 - 3.0 %   0.3   0.3   0.2   0.4   0.3   0.2
Auto ABS Eos 0.00 - 0.30 X10'3   0.02   0.05   0.02   0.03   0.05   0.13
Auto % Eos 0.0 - 8.0 %   0.3   0.4   0.2   0.4   0.8   1.5
Hematocrit 34.7 - 46.0 %   40.7   19.7   38.6   37   43.3   39.6
Hemoglobin 11.5 - 16.0 gm/dL   13.6   6.7   12.7   12.5   14.6   13.6
Auto ABS Lymph 0.80 - 4.00 X10'3   1.68   2.34   2.18   1.82   2.37   3.69
Auto % Lymph 16.0 - 51.0 %   28.9   20.8   19.4   22.3   38.5   41.5
MCH 26.0 - 34.0 pg   31.4   31.5   30.8   33.1   31.9   32.2
MCHC 32.0 - 36.0 gm/dL   33.4   34   32.9   33.8   33.7   34.3
MCV 80.0 - 97.0 fL   94   92.5   93.7   97.9   94.5   93.8
Auto ABS Mono 0.00 - 1.20 X10'3   0.29   0.59   0.42   0.16   0.37   0.53
Auto % Mono 0.0 - 12.0 %   5   5.2   3.7   2   6   6
MPV 6.5 - 12.4 fL   10.9   10.4   10.7   10.5   11.1   9
Auto % Neut 37.0 - 80.0 %   65.5   73.3   76.5   74.9   54.4   50.8
Platelet Count 140 - 440 X10'3   248   491   316   348   300   261
RBC 3.85 - 5.20 X10'6   4.33   2.13   4.12   3.78   4.58   4.22
RDW 11.5 - 15.0 %   13.2   12.7   13.2   12.6   11.6   11.9
WBC 4.0 - 10.0 X10'3   5.8   11.2   11.3   8.2   6.2   8.9

thank you for taking a look

I went back through my records and it turns out I did have iron tests done on 10/17/12. I was feeling really crappy right about then, so I didn't remember.

Total Iron Binding Capacity   358   
Iron Percent Saturation   36       
IBC Unsaturated   230       
Ferritin   17 (this went up to 93 last year)
Iron   128

as far as supplements, yes:
Methalated B12 (before I started on shots, my blood cells were always on the small side of normal in size)
5000 IU D3, MSM, Lysine, Iodine, zinc, just started again on folic acid because I ran out a couple of months ago and started feeling really crappy.
turmeric and cannabis for pain.

I realized I forgot to reply about fruit and veggies. I'm extremely poor and I have severe food allergies to wheat, beef and eggs. I try to get as much fresh fruit and veggies as I can, at least a few apples and avocados every week, berries and greens from my garden, lots of herb tea, usually at least a couple of banana/strawberry/raw yogurt smoothies.

I've been trying to get my doc to go ahead with testing that will confirm or rule out because I've developed painful heart palpitations over the past year and it is scaring me, but she won't do order any tests or make any referrals until she sees me next month. she knows my history though, she knows I've been exhausted and in pain for years, she knows about my liver issues and my sleep disorder and my IBS and I've told her several times already even before I found out about this that I feel stupider than I used to, like part of my brain is asleep.

to set my mind at ease, how dangerous are heart palpitations in thalassemia minor or intermedia if you already have multiple endocrine issues (hypothyroid, low cortisol) and recurring liver/spleen issues?

Your blood indices do not indicate thal minor. The MCV and MCH are always low in thal minor and the RBC and RDW will both be high. There is nothing in the reports that would cause the doctor to further investigate thal minor.  The iron levels also look normal, outside of the low ferritin, which you said has risen. You shouldn't currently be taking any iron, as your numbers are fine. One supplement I would suggest is magnesium. Heart palps are sometimes a result of an imbalance of calcium and magnesium, as each mineral regulates one side of the heartbeat. Magnesium can sometimes help with joint pain, too.

Is Lyme disease a possibility? It causes severe joint pain and can linger for years if not treated.

thank Andy, it's a relief to hear my tests look fine.

I've been tested for lyme 3 times, always negative. I'm scheduled to go in for a blood test for rickettsia next week.

this is such a mystery! my daughter is starting to have the same symptoms I did when I was her age, too, so I am very concerned.

will look into the mag, although I only ever take calcium supplements that have magnesium in them. I suppose it's possible that I have an imbalance, but I can't imagine how unless I'm not absorbing minerals 

thank you again! best of luck to everyone and much love, you have a fantastic community.

Andy, can you delete my post in The Spotlight? I tried to delete one of the posts because I thought I put it in the wrong place, but I'm not able to.

thanks!