Questions about lab results

I'm so glad to have found this great forum!   

As I mentioned in another post I was recently diagnosed with Beta Thal Minor (specifically HB Ernz Beta Globin Variant ) and MTHFR C6677T.   My hematologist gave me very little information about these disorders except to say that my bloodwork looked good and there was nothing to worry about. 

Fortunately, with your help I have learned a great deal about thal, and I am realizing that this disorder along with MTHFR and long standing on / off lyme issues could have serious implications.

Below are a few questions regarding my recent lab results that are related to thal minor:

Results:

WBC            4.9      (4.0 - 10.5)
RBC            5.23     (3.80 - 5.60)
Hemoglobin  14.6    (11.5-17.0)
Hematocrit   43.3     (34.0-50.0)
MCV             83       (80-98)
MCH             27.9    (27.0 - 34.0)
MCHC           33.7    (32.0 - 63.0)
RDW            13.8     (11.7- 15.0)
Platelets        171      (140-415)
EOS               1         (0-7)


 
BUN                            23       (8-27)
Creatinine                   0.95     (0.57 - 1.27)
BUN/ Creatinine Ratio    25        (11-26)


TIBC                 372    (250-450)
UIBC                 275    (150 - 375)
Iron serum         97      (35 - 155)
Iron Saturation    26      (15-55)
Ferritin serum     31      (13-150)

Vit D 25- Hydroxy, D-3      31

Hemoglobin A1C    5.6    (4.8 - 5.6)
Glucose Serum      80      (65-99)

vitamin B12 serum  1700   ( last blood test it was 1400 (range: 200-1100); Methylmalonic Acid Serum 121
( 87 -318); Homocysteine 6.8 (<10.4)  )

folate serum            >24   


Questions:

1. I am currently experiencing fatigue, and a weak, off balance feeling.....do my results give any clue as to whether these symptoms could possibly be caused by thal minor?

2. What are your thoughts regarding my B12 and Folate levels?   I have been told by a metabolic specialist   that they may be high because I'm not able to convert these nutrients to a form my body can absorb due to MTHFR.   Do you think thal minor contributes to this issue or is it just an MTHFR issue?

3. My A1C  is 5.6.....a couple of months ago it was 5.4......can thal minor raise blood sugar levels and cause diabetes?    My mother and brother have type 2 diabetes so I'm really worried but they were overweight.....I'm 8-9 lbs away from my target weight.   

4.With regard to my iron values, am I at risk for iron deficiency and /or iron overload?   Any suggestions as to how I can best prevent these conditions?

I apologize for the long post.   Your help is much appreciated!

JJ


   

Hi JJ,

First thing you should have been told about the HB Ernz Beta Globin Variant is that it is a benign beta globin variant, that causes no change in your blood indices and even when in combination with a beta zero variant, will only present as thal minor. Your blood count is all completely normal. I would say that this thal variant is not responsible for your health issues.

However, the MTHFR gene may very well likely be the problem. The high serum levels of B12 and folate do indicate you may have an absorption issue. I will refer you to this post from Janco, at http://www.thalassemiapatientsandfriends.com/index.php/topic,3608.msg36782.html#msg36782

Something else that is interesting to me is that I have one mutation of the MTHFR gene.  With one mutation folic acid is not as readily available because not as much is converted to folate.  People with two mutations can't convert any folic acid to folate and have to use the converted form of methylfolate as a supplement instead. 

Jan

I would suggest giving that a try. You should also talk to your doctor about the high serum B12 level and see if B12 shots might be the proper method to absorb B12. Some also claim that the best oral form to take is Hydroxy-B12. I would also recommend getting tested for the most common vitamin deficiency, vitamin D. Deficiency causes tiredness and fatigue and contributes to a host of health problems. The "official" low end level is 30, but 35 is a more realistic level, with at least 50 being an optimum level. I currently take 5000 IU daily to maintain a level in the high 30's. It does make a big difference when the level is corrected.

I have read advice on Lyme's disease that says to avoid vitamin D. I do not agree with this. See this article about Lyme disease and its treatment. http://www.foodconsumer.org/newsite/Non-food/Disease/Dr_Charles_Crist_on_Lyme_Disease_0601110721.html

Beneficial Supplements

Dr. Crist also monitors his patients' vitamin D levels, with the aim to maintain their levels between 80-120 ng/ml, which is slightly higher than the levels recommended  for the treatment of heart disease and cancer.

"I'm pretty aggressive with that," Dr. Crist says. "That's one of our cornerstones—trying to get people to take vitamin D, plus magnesium, iodine, and multiple vitamins. We try to promote good nutrition."

Interestingly, Dr. Crist has been promoting and incorporating vitamin D in his treatment for at least 10 or 15 years—long before its health benefits were widely known. Many have told him that optimizing their vitamin D levels changed their life; although, admittedly, it's sometimes difficult to pinpoint exactly which part of the overall treatment made the greatest difference.

There is no connection between HbA1C levels and thal minor. Your level is not high enough to suspect a problem, and that test has limited value for non-diabetics. Your iron levels are all within a normal range. I don't see any problem there. 

Thank you so much Andy for your great input regarding my thal variant.   I'm glad to hear that you feel that I have a relatively begnin variant.   Just so I'm clear about this, HB Ernz is not really another name for Thal minor, it's a different variant?   Should I still refer to it as thal minor?

I also thought that my thal variant might become more of an issue in combination with the MTHFR issue, am I wrong about this?  I thought that the hypercoagulation caused by MTHFR combined with the mild anemia caused by thal minor would be a bad combination.....and could be lowering my immune system response etc. 

Thank you aslo for confirming what I have been suspecting all along about my b12 and folate issue......I have been trying to convince my doctors about the connection between MTHFR gene mutation and B12/folate absorption but no one seems to think it's an area of concern......not even the highly experienced hematologist who has some knowledge about MTHFR and who found the variant.  He did test my Methylmalonic acid and Homocysteine levels..... they were normal so he said there was no problem.....but I still feel that there is something wrong. My current symptoms of fatigue, weakness and lightheadness could be caused by a b12 deficiency, right?

 Are there any other tests that can be done to see how much folate and b12 my body is actually absorbing?

I have tested my D level (it's included in the lab results listed) and it's 31....my doctor recently recommended that I take 10,000 IU's a day for a month to bring my levels up between 50 and 80.

 I'm surprised to hear that there is no connection between HbA1C and thal minor I thought I read some posts on this board about thal possibly causing elevated blood sugar and/or diabetes?

With regard to my iron results am I leaning on the low side (i.e. close to a deficiency) or toward overload?
 
Thank you for your time, patience and assistance Andy!       

Technically, it is a thal trait. There are actually quite a few variant hemoglobins that cause no problem. As far as in combination with MTHFR, it has been difficult to show any cumulative effect even in thal majors with the MTHFR gene. However, the MTHFR gene is responsible for literally a host of various issues, in addition to problems with folate absorption, such as chronic fatigue syndrome. You can see a list of these at http://mthfr.net/mthfr-mutations-and-the-conditions-they-cause/2011/09/07/

I am glad to see that your doctor is striving for a high level of vitamin D.

The connection to diabetes in thals is primarily due to iron loading and damage to the pancreas. This is not common in thal minor, as most minors do not accumulate an iron load. Your levels are normal and not on the high or low end. I would not expect to see any iron loading.

Thank you so much Andy!