Thal Minor or Pernicious Anemia?

I'm having trouble convincing doctors that I have symptoms with my beta thalassemia minor, and I wonder if maybe I have a more severe B12 deficiency that's not caused by the thalassemia.

I have labs dating from Jan. 2013 to Feb. 2016 of various tests doctors have run. Here is a sampling from Jan. 2013:

Name	Value	Flag	Range	UOM
RBC	5.65	H	3.77-5.28	x10E3/uL
Hemoglobin	11.6		11.1-15.9	g/dL
MCV	66	L	79-97	fL
MCH	20.5	L	26.6-33.0	pg
MCHC	31.0	L	31.5-35.7	g/dL
RDW	16.7	H	12.3-15.4	%
Vitamin B12	150	L	211-946	pg/mL

This lab included a Hematopath Consultation, Smear
WBC
RBC
Abnormal RBC parameters and morphology suggest the possibility hemoglobinopathy/thalassemia with or without iron deficiency. Dacrocytes (tear Drop Cells) present. Ovalcytes present.

I've excluded most of the unflagged values for brevity.

After these labs, my doctor said I had beta thalassemia minor and asked if I'd ever been tested for it. It turns out I had, and my hematologist had said it's asymptomatic, so I failed to take note of it. She started talking about B12 shots, so I just started taking B12 pills on my own to see if they helped.

Before the B12 pills, I had difficulty walking straight and very little control over my hands and feet. I had one pace at which I could walk, and that was it. I was always fatigued and had difficulty staying awake in afternoon meetings. I would get double vision and could rarely hold up my head just with my neck (had to use my hands). When exercising, it seemed I could use up 5 days of energy with just one hour of working out, even with 10 hours of sleep a day and lots of protein and carbs for energy replacement. After a few weeks of exercising, I would get massive migraines; pretty much the worst ones you can have. These migraines would ebb and flow, but they never went away until I stopped exercising altogether.

After I started taking the 2mg pills, I started being able to control my hands and feet and walk at different speeds without bumping into things and hurting myself. I could also start holding my head up normally, though only for a few hours a day. Then, I bumped it up to 3mg to see if my symptoms improved, and they did. I started feeling less fatigued, and that strange sensation in my hands started going away.

In June 2013, the doctor checked my B12 levels and found I was at 907 pg/mL. She asked me to stop taking it to do another test, but I refused. She tested me again in October 2013, and my B12 now said >1999 pg/mL - off the chart. She then told me that the pain I was feeling in my hands was due to B12 overdose and advised me to go back to 2mg/day. I started feeling badly again but kept it up until recently.

I realized this year that the tingling in my hands, feet, and tongue is actually nerve pain, and it seems to be worse when my hemoglobin is low. I also have personality swings and signs of dementia, which are very troubling. As far as I know, my hemoglobin has never been below 10, and the highest I've ever seen it was in Oct. 2013 at 12.1, when my B12 was so high. I'm fairly certain I've been experiencing anemia due to B12 deficiency, so lately I started taking 2mg twice a day. I feel much better now, but I also seem to need a constant flow of water coming into my body. If I miss a pill or go for any waking hour without a cup of water, I become anemic for the next half-day.

I've read through symptom lists many times, and my symptoms seem to line up with pernicious anemia more than they do with thalassemia, but even so, the symptoms always look like they're in the more intense category then my blood-work suggests. I'm a minor, but I seem to feel more like an intermedia. I have B12 deficiency, but I seem to have severe symptoms. Also, I figure if I actually had pernicious anemia, it would've shown up in the blood smear with macrocytes, but they weren't mentioned.

Hi Rachel,

Your CBC indicates thal minor. It isn't intermedia. The symptoms are mostly known symptoms known to occur in thal minor (it is not asymptomatic, even though doctors enjoy telling people this wrong information. This group is loaded with thal minors who have been through the same with uninformed doctors). I think your symptoms are caused by a combination of thal minor and B-12 deficiency, and possibly vitamin D deficiency (the affects on your personality sound very much like D deficiency. I've been through it. D cured my constant winter depression). The tingling is constantly reported by minors. Thalassemia depletes many nutrients, so your B-12 issue may not be totally independent of thal.

This test says your B-12 was only 150. You definitely have an issue beyond what is normally seen in thal minors. Recent research shows that thal minors should be at least on the high end of normal for B-12, so the doctor should not have said stop it when you were close to the high end. I have visited B-12 forums and learned from others that levels around 2000 do no harm and are exactly what some patients need. Sublingual is best.

Have you had your vitamin D level tested? Deficiency is even more common than with B-12 and low levels exacerbate all of the problems of thal minor and can cause it to go from manageable to unmanageable. The level should be a minimum of 30-35 with a goal of over 50. D levels are difficult to budge without taking high doses. I do not have thal, but have a vitamin D problem, as I live too far north to get sunshine often enough. I take 5000-10,000 IU D daily. It turned my life around.

Take a look at this post about nutrition for minors. You may pick up some ideas that will help. I regularly hear from thal minors who say these recommendations have made a big difference.
http://www.thalassemiapatientsandfriends.com/index.php/topic,4890.0.html

Thank you for all your research, Andy. Are you a doctor? I did get my vitamin D tested. In Oct. 2013, it was 17.7. I think this is when I started taking 400 IU of vitamin D daily. I was tested again in May 2014, and it was up to 31.7. I didn't really notice a difference, but I was still struggling with the exercise problems at the time. I stopped taking it when the bottle ran out, which was quite a while ago. I haven't been tested recently, but I've been mostly inside, and I live at 39.5°N Latitude, so I can't really get it from the sun either. I bet my levels have dropped again.

It's good to know that my B-12 issues are separate from thal. All this time I thought it was caused by thal. Maybe now I can better explain it to my doctor, too.

I will go ahead and get some more vitamin D and try sublingual B-12 to see if that works better. Should I try an amount as high at 5,000 IU of vitamin D to start off with?

Thanks for the info Andy, That levels upto 2000 do not harm.
I am continuously taking FA with B12 750mcg daily orally.
Now on FA+B12 750mcg+B6 oral tab also having an another option that i shift FA with 1500mcg B12 + B6.
My level of B12 is around 950+

Rachel,

I am not a doctor. My recommendations come from years of study and observing and attending thalassemia conferences all over the world to learn from the top doctors and researchers. This is purely a volunteer effort.

I really didn't feel right until I got my D level up to around 40. I take D daily. My doctor told me to take it even when I can get sunshine and it has made a big difference. The amount you need is based on heredity. I am of Mediterranean origin, and it takes more D to maintain a normal level due to the darker skin. Lighter skinned people find it easier to correct deficiency. I take at least 5000 IU daily and my immune system has never been better. Your dose of D will depend on your ethnic background.

In that case, I may need more vitamin D, like you do. I am half Indian, and my skin is darker than yours.

I started taking 5,000 IU of Vitamin D a day, and I already feel less need for my second dose of B-12 each day. I'm so glad the 5,000 IU geltabs were available. I was dreading taking 12 pills a day of the 400's.

I will be taking a drug test soon. Do I need to notify my tester that I'm taking B-12, folic acid and vitamin D?

Hello Rachel.

Yes, it would be good for your doctor to know. I'm not sure if the tester would need to know. It may be that you would need a higher dose of Vitamin D, as much as 20,000iu/30,000iu once a week perhaps, to bring your levels up. I have two sons with thal major and all of us take Vitamin D3 tablets, 2000iu daily. The levels stay over 50.
All the best to you!

 

Yesterday, I started trolling the internet once again to see if I could find a better treatment for my costochondritis. I started looking into soaking in the bath, when I found this article talking about how vitamin D is needed to heal joint pain: http://fitness.mercola.com/sites/fitness/archive/2012/01/06/major-secret-in-achieving-joint-pain-relief.aspx. I've been taking 5,000 IU of vitamin D daily for three months, and my cartilage is finally starting to heal after being damaged six years ago. I don't even have to take Aleve anymore to control the swelling.

Thanks so much for the excellent advice, Andy!

You're welcome. I have currently raised my dose of D to try to get a stress fracture in my foot to heal faster. I hope it helps.