monitoring more than hemoglobin

Hi all!

I discovered this site a couple of months ago and have garnered so much helpful information from your experiences.  I'd like to relay my recent (and first) interaction with a hematologist.

First a little background.  During my third pregnancy in 2000 I experienced a placental abruption which resulted in my daughter being born at 25 weeks.  From that time, at 27 years old, I noticed a marked decline in my health that I couldn't seem to resolve or find the cause of.  I had known all my life that I have beta thalassemia minor, as most of my Greek family do, but it didn't occur to me to consider this.  Well, like many stories I've read here, years of searching and seeing medical specialists to rule things out lead me full circle back to thalassemia - and to this website!

I made an appointment with a renowned hematologist at the University of Cincinnati and was so excited to see he had been involved in tons of genetic research dealing with genotypes and phenotypes.  In preparation for my appointment, I was able to have my family doctor order DNA analysis, along with other labs I thought might be useful, so that I could bring these results with me.  DNA analysis revealed my genotype to be Beta-0 (IVS-I-1), with a silent polymorphism, 9C>T.  Hemoglobin results were good, 10.2 total (normal for me), broken down as 95.1% Hemoglobin A and 4.9% Hemoglobin A2.  This lead me to wonder if my health issues could be unrelated to low hemoglobin, but rather, might be the result of the toxic consequences of excess alpha proteins, and possibly too much iron absorption.

I presented this question to the hematologist, and was so discouraged by his response.  He said that with my hemoglobin numbers, he wouldn't have ordered a DNA analysis, because it is inconsequential.  His feeling is that hemoglobin is the only consideration in thalassemia's affect, no matter what genotype is present.  He acknowledged the tendency for increased iron absorption due to low levels of hepcidin in thalassemics, but considers it irrelevant if hemoglobin is stable.  He said, "I'm not saying your symptoms aren't real.  What I'm saying is: it's not thalassemia."  Those of you who have experienced the same thing can appreciate the blow this was.

What I'm curious about is, do any of you with more knowledge than me think my line of thinking about excess alpha proteins has any merit.  If so, who do I turn to for oversight in helping me manage my health?  I'm not looking for something to be wrong with me; I'm seeking consistent functional health.  Are we really on our own with this?

It is recognized that the excess alpha chains and the tetramers they form are contributors to the hypercoagulable state in thal major and intermedia, yet doctors reject the possibility that this can happen in thal minor. But, we regularly hear reports from thal minor women who miscarry due to of placental interruption, either a low blood flow to the fetus or a partial detachment of the placenta from the uterus, leading to the miscarriage. But, because thal minor is wrongly considered asymptomatic, the possibility of thrombosis being related to thal minor is dismissed with no investigation.

It is no coincidence that hundreds of thal minor women have reported one, two and even three or more miscarriages, through posts on this site, PM's to me, or talking directly to me online or in person. The numbers are staggering, but unlike the medical profession, I have paid attention to these reports. How many doctors have reported even the possibility that thal minor could be a contributor to miscarriage? We can probably count that on one hand. It's a sad fact, but patients are left with little to no help from their own doctors when it comes to miscarriage.

In general, most thal minors have to reach the same conclusion. If they are going to get help, they need to help themselves. I think that in most cases, saying thal minor is going to fall on deaf ears. When approaching your doctor to talk about the whys of miscarriage, it may be better to leave out mention of thal minor, and instead tell them that you suspect thrombosis as a possible cause of the miscarriage and can you be monitored for it should you again become pregnant. A doctor may prescribe a daily aspirin if this is suspected. I also recommend a minimum of 400 IU natural vitamin E daily during pregnancy, as its properties help keep the blood thinner and less prone to clotting. Of course, folic acid is also a must for any pregnant woman or any woman trying to become pregnant, and especially when thal is involved.

Are you on your own? I think there's enough women in this group with similar problems, that it has contributed greatly to the understanding of this topic, that no one should consider themselves on their own. A doctor may not be involved, but I want to remind everyone that being pregnant is not an illness, and many of the problems women experience in pregnancy can be minimized by a good diet, supplements and exercise. I encourage all members to share the things they have done to help themselves have better health, and with this topic, what did you all do to have healthier pregnancies?

Thank you, Andy!

I sympathize with those who have struggled with difficult and/or unsuccessful pregnancies, and I am reminded of how blessed I am to have three healthy children - including my preemie daughter, who is now almost 11!

My primary interest is unrelated to pregnancy, but your information was still very helpful!  The general unresponsiveness of the medical community is disappointing.  I wonder if anyone here has gotten support from any kind of doctor, or maybe a naturopath?  And I'm interested in any opinions about whether the people here feel hemoglobin numbers are their primary concern (in minor) or other health issues.  Andy, do you think it is far-reaching to suspect excess alpha proteins and/or increased iron absorption have a negative impact on health, even in the presence of healthy hemoglobin levels?  If so, do you think knowing if you are beta(0) or beta(+) is useful?

It seems the effect of thalassemia varies widely from one person to the next, and I guess there's no telling what combinations of crazy genes we inherit that might help us or exacerbate the problem.  I am so thankful for the people here taking the time to share their personal experiences and tips about things that have helped them!  I have already learned enough to make significant changes in my supplement routine and am excited about the possibility of helping the next generation of thalassemics (my son and a couple nieces) in our family avoid the frustrations we've endured.  

Much thanks!
Katrina

Katrina,

What are the symptoms that you experience from thal minor? Unfortunately I can't give you answers yet, since I just discovered that thal minor might be the cause for my fatigue, but I wonder what symptoms others have. My only symptom is fatigue, and maybe a little dizziness upon standing. I'm about to start taking B vitamins...have you tried this?

Also, my doctor says I'm anemic, but I didn't ask for the exact numbers of hemoglobin, etc., since I didn't know what they meant. I wish I had now that I see all the numbers on this site.

KitKat,

I enjoy learning about health and fitness and am fairly knowledgeable about it.  This was my frustration, that I thought I was doing everything by the book, but if something was off just a little, I had a full-blown breakdown.  Typically, it goes like this:  I can exercise well for two weeks.  In the third week, I can't get through even a moderate workout.  My heart pounds and races and I feel like I can't take a deep enough breath. This lasts for days or weeks, even at rest.  My lower digestive system is a complete wreck, with excessive bloating.  My hands and feet break out in a rash (little itchy bubbles).  I would get multiple canker sores in my mouth.  My hair falls out, not in clumps, but thins to the point that I can see my scalp through it in the right light.  I experience muscle twitches, mostly in my face, that last for days.  Tingling in my arms and legs, and once had numbness in my thumbs and big toes for weeks.  Inability to think clearly, to the point of really having to think to remember my age or phone number.  Then the fatigue, not tired like I need a nap, but tired like I can't be a normal person, just trying to survive.  I also experience emotional imbalance, hopelessness and lack of motivation, that I know certainly is not provoked by my life circumstances.  When I first noticed these things happening I also realized my hormones were off, because I transitioned from having very regular cycles to being crazy irregular.  I was able to fix this part eventually with progesterone cream.

I had added some specific supplements to my routine based on my own research, which helped some, but not completely.  After reading here, I realized I hadn't gotten any canker sores since starting a vitamin B complex, which I hadn't really paid attention to.  I had also stumbled across information about inositol, vitamin D and wheatgrass.  Through the helpful information here I feel I am able to have a more specific regimen to work towards.  I will make an observation about myself, in hopes that it might be helpful for others.  I notice that it is more obvious when I feel bad than when I feel better.  In other words, taking certain supplements may have been helping me, but I stopped because I couldn't really see a dramatic improvement.  Then I would experience extreme symptoms and feel terrible.  I have shifted my goal to achieving consistency and avoiding stretches of disabling symptoms, rather than trying to feel great and superhuman.

What I take and find helpful:
Vitamin B complex
Vitamin D
Acetyl L-carnitine
Inositol Hexaphosphate (IP-6)
Marine Phytoplankton
Resveratrol and acai blend
Greens blend

I didn't put the doses because I don't know if I take the recommended amounts, and I don't want to lead anyone astray.  I do feel more sustained energy and mood relief. I haven't started exercising yet, mostly because I haven't mentally committed to it.  Hopefully, by the end of the summer I'll pick it back up.  I've been reading recently about the benefits of a vegan diet.  I think there is compelling evidence that animal products may present added stress on the body, so I'm toying with that.  Again, I haven't fully committed (mostly because my 14-year-old son doesn't want me to be "weird"), but I have transitioned to two-thirds vegan.  After a week of eating more junk than usual and feeling bad, I could definitely see I feel better eating mostly vegan.

I hope this is helpful.
Katrina

That is a lot of symptoms! And they say thal minors don't have symptoms. Although, some of them MAY not be related to thal. I haven't heard of thals having canker sores or rashes, but you never know.

Like you, I have the fatigue to the point of where I can barely leave the house or lead a normal life. I can't imagine what it will be like when I have to move out (I'm 21 and living with my parents while I attend college). I get really bored but I don't have the energy to do much but sit at home on my computer or watching TV. At least I am able to make a bit of money working from home. I also have a bit of emotional imbalance that may or may not be related to thal, but taking St. John's Wort has helped a bit with that.

Thanks for the list of supplements. I've been taking vitamin B, but only for 2 days so far and haven't noticed any effects yet. Hopefully it just takes a few days. I also have been getting 10-15 minutes of sun every day while I wait for my paycheck to come so I can order some vitamin D from Amazon :D The rest I haven't taken but I will look into them. About IP6...I thought that was just for thal majors, something to do with the chelation. What exactly does it do?

P.S.- This nutritionist I talked to said I might have a problem with my adrenals which would cause some of the fatigue, but I didn't get that tested yet because insurance doesn't cover it and it costs close to $200. It could be something to look into though.

What annoying such an insurance proble. I hope I spell it right: has it anything to do with endocrinology?

Hi Katrina,

 I used to get canker sore in my mouth a lot. I was told to take vitamin B which did not help much. I start using listerin mouthwash everyday just for dental hygiene and guess what? I do not get canker sore any more. I do not know it’s a coincidence or not but it definitely helped me. Just wanted to share my experience with you. You can give it a try.

I have similar problem when I workout. I get very tired and fatigued when I workout. But it helps me emotionally.
Nadia

I had tried many special mouthwashes (including Listerine) for the canker sores without relief before being consistent with vitamin B.  As far as IP-6, I don't take it for iron-related issues.  I had started taking inositol awhile ago after learning it can help support the nervous system.  I switched to the IP-6 version just because I saw a lot about it here, and figured, why not?

Reading back over my earlier post, I guess that is a lot of symptoms.  That's why I was sure something must be wrong, and why I continued for years pursuing an answer.  I have a great family doctor who listens to me, lets me try things and refers me to other specialists.  She runs blood work every six months just to keep an eye on things.  Sometimes my thyroid is low; sometimes high; sometimes fine.  I've been off meds and maintained normal thyroid numbers for over a year now.  Now that I'm convinced my problems are primarily related to thalassemia and that I can manage my symptoms well enough with a healthy lifestyle, my poor doctor will have a break from this wild good chase we've been on that past 10 years!

I have seen an endocrinologist and been tested for adrenal fatigue by means of a cortrosyn stimulation test, and other endocrine-related possibilities (vitamin D deficiency, diabetes).  Passed all these with flying colors.

I have a family member with ankylosing spondylitis (arthritis of the spine), an autoimmune affliction that usually shows up in men.  When women have it, the symptoms tend to be atypical.  It turns out, I have the gene associated with the abnormality (HLA-B27), but not the disease.  Actually, the rheumatologist I saw thinks my family member was misdiagnosed.  Since this family member also has thal, I wondered if his issues could be related.  Maybe the gene influences how the body responds to inflammation or other stress generally.

I was referred to a neurologist to check out the nerve issues and had MRIs, CT scans and a 24-hour sleep study.  The results of those were that my brain and nerves seem to be fine, but the doctor concluded after the sleep study, "You are very tired."  Very funny.

The list goes on, with similar results.  Cardiologist, dermatologist, hormone specialists - and now, hematologist!  It's a little comical and a lot embarrassing.

If any administrators happen to still be following this thread, I'm still interested in your opinion on my earlier question concerning things going awry in other systems without affecting the blood system.  If I understood the hematologist correctly, he thinks that it is possible thalassemia (heterozygous) affects other systems, but if it is severe enough to require intervention, hemoglobin numbers will be affected.  I wonder if this is true or if he thinks this because it is useless to identify a problem that originates in the blood, but that can't be helped by manipulating the blood.  If blood counts are all at functional levels, the hematologist can't really do anything.

The obvious frustration is that the only community of doctors who are knowledgable about (or even aware of) thalassemia is hematologists.  No studies will be conducted without them acknowledging there is a problem they can't fix.  We need studies so that we can get information!  Maybe there are still some curious scientists out there in the medical field.

Thalassemia does affect the other systems, but it is through the blood, the bad blood specifically. The lower the Hb level, the higher the rate of ineffective erythropoiesis in the bone marrow and the more unmatched alpha globin there is, because beta globin production is lower than normal. The excess alpha globin molecules come together to form tetramers. The result of ineffective erythropoiesis is bad red blood cells, as seen in blood tests as those small, pale, irregularly shaped RBC's. The tetramers and bad RBC's are both harmful and their effects will be seen in the organs and the circulatory system. Both cause hydroxyl radical production and oxidation throughout the body, depleting the body of nutrients. They also cause a "cluttering" in the blood that can lead to clotting issues. As the bad RBC's break down, they can actually contribute to the destruction of healthy RBC's. This is why diet and supplements are so important in thalassemia, as you have already discovered. Antioxidants are extremely important. Vitamin E is a powerful antioxidant that is also a mild blood thinner, which helps to counter the clotting tendency. For anyone reading this, one nutrient that should not be overlooked is nitric oxide (NO). NO is greatly depleted by thalassemia and this causes great problems in the blood vessels and heart, as they become stiff and less flexible with NO depletion, leading to pulmonary hypertension (PHT or PAH). A good diet with a good variety of fruits is very helpful. If it is suspected that more NO is required beyond what diet brings, one of the L- supplements should be taken to promote NO production. L-carnitine, L-arginine or L-citrulline.

What I have said above is recognized in thal major and intermedia. but few doctors will even consider it in minor. The fact that your hematologist even considers this is a big positive in his favor. I recognize that this is happening in thal minors because the mountains of reports we receive here tell us that thal minors experience many of the same things majors do, but to a lesser extent. Thalassemia isn't just low Hb and iron loads. Because the entire body is blood dependent, these negative effects will be seen throughout the body, manifested in different ways, but beneath it all is the ineffective erythropoiesis and formation of tetramers. A nutritious diet that avoids processed foods and empty calories, along with supplements can help to produce healthier blood with less ineffective erythropoiesis. Any increase in fetal hemoglobin (HbF), even if the total Hb does not increase, means less ineffective erythropoiesis and less clutter in the blood. Wheatgrass and resveratrol are both known as having potential in this department but eating whole foods is also productive. I think your diet and supplements are exactly what you should be doing, and as you said earlier, a commitment to exercise is needed. I have that same problem, as my doctor reminded me recently.

Thank you, Andy!  This was extremely helpful!  Your appreciable knowledge has been the best source I have come across to increase my understanding of thalassemia.

Something I still don't completely grasp: These problems with erythropoiesis occur in response to low Hb levels.  So then it seems reasonable to conclude, as the hematologist did, that when Hb levels are good, these other systems shouldn't be noticeably affected.  Or are "good" thal minor Hb levels, say 10 or above, not good enough to avoid problems?  If this is the primary cause of symptoms, it seems simple enough to observe/study in order to determine at which specific Hb number erythropoiesis is affected and when intervention should be considered.

Another question about iron.  It is known that thal minors have low hepcidin levels and absorb more iron than necessary and that typical blood test results are not reliable for these individuals.  Why wouldn't this be a concern for doctors?  Would the levels of iron affect Hb numbers in thalassemia enough to reveal whether there's a problem with iron in organ tissues or not?

Thanks,
Katrina

Hi Katrina,

Even though it is likely that fewer problems will occur with higher Hb, and especially over 10, it is still low, so some ineffective erythropoiesis will still occur, but this will not be equal for each person with that specific Hb, so some will experience more ineffective erythropoiesis than others. Various factors will affect this and both hepcidin and transferrin have been mentioned as having a role in reducing ineffective erythropoiesis, so it is a combination that will be unique in each individual that will determine how much if any the effect is on other systems in the body. In general, a higher Hb should help to avoid other issues but for some people this level may be higher than 10, and this is based on my observations of what has been presented in posts here from people whose Hb would in theory pose no issues. It does seem that even at 11, some do have thal minor related symptoms.

I am very concerned that thal minors, and this seems even more alarming with alpha thal minors, are not being accurately diagnosed when told they are iron deficient. Even though added iron absorption from foods is not highly significant for minors unless the Hb gets very low (under 9), there is no reason thal minors should test as iron deficient in so many cases and I doubt that most who are diagnosed as thal minor with iron deficiency, are really iron deficient. I have even begun to question routine iron for pregnancy as the higher Hb induced by iron has never been shown to have any effect on the health of the child, but rather it has just been assumed that iron makes a difference. Reviews have shown no difference in outcome of the pregnancy at all. I have found it rather easy to maintain a strong hematocrit on a low iron, vegetarian diet, and have great doubts about iron supplements in general. I think getting sufficient vitamin C and D is far more important in ensuring you absorb enough iron than the amount of iron found in the diet. We actually need very little iron as we lose only about 1 mg daily. I don't think that iron poses a risk for most thal minors in general unless iron supplements are taken long term. Deficiency is far more likely if some absorption problem like celiac disease is also present. I think it would be far more likely for a minor to be misdiagnosed as iron deficient than for a minor to have iron overload. Iron won't have any effect on Hb levels in thal minor unless there is a co-existing iron deficiency, so there would be no indication of iron load by rising Hb. A strange fact seen in thal intermedias is that rather than using iron stores in the body, the gut will absorb too much iron from food, looking for more iron to build red blood cells (which are mostly useless), but unless the Hb is on the very low end of the thal minor range, a similar over-absorption of iron should not occur.

Thank you, Andy.  This is very helpful.  If iron overload is not a concern in minors with healthy Hb, is there any reason to limit vitamin C?  Since it is a very effective antioxidant and high doses of vitamin C have been shown to significantly improve health, wouldn't the benefits outweigh the risks?

Also, I did some reading on nitric oxide, and it looks like L-arginine is the primary recommendation to increase it.  However, there seems to be some issue with crossing the blood-brain barrier and the need for a blind amino acid rider, without which, the L-arginine can actually cause harm.  Do you know anything about this?

Thanks,
Katrina

As long as the HB isn't extremely low for thal minor where excess iron absorption might take place, there is no reason thal minors should not take vitamin C. I regularly recommend C to minors.

Unfortunately, L-arginine discussions online are almost completely dominated by frauds because of its reputed value in body building, where I believe it has questionable value. There is one doctor in particular who has gone to great lengths to invent a fantasy about L-arginine so that you will buy her product that can allow L-arginine to pass the blood-brain barrier. Since L-arginine is produced in the brain, it is difficult to believe these claims, but a search will show so many articles planted by this doctor, that it seems like it must be credible. I have seen this often from scammers of various sorts, and with thal majors, we have often seen scams that claim to cure thal while only emptying bank accounts. The tactics are always similar. Loads of articles praising the scam and planted by the scammer are easily found in a search. Because I am tired of the empty threats of these scam operations, I will not mention this doctor's name. I do feel that people like her should be "run out of town" as they prey on people by using an understanding of how the internet works. I would appreciate if her name is not mentioned in this thread, as invariably I will get a threatening pseudo legal email telling me I may be sued, as has happened in the past with another scammer who claimed to cure thalassemia by injecting fetal stem cells from calves directly into the muscle. For $18,000 you got meat injections that cured nothing. I don't have time to deal with these frauds and know far more about the law than they do and can shut them up, but I prefer using my time in positive ways.

L-arginine supplements promote the formation of nitric oxide at the brain blood barrier. Using a formula that uses tapioca as a vehicle to properly allow L-arginine to pass the blood brain barrier is nonsense and a waste of money. It is not needed and this only clouds the understanding of NO that has come about over the past 20 years.

Very helpful.  Thank you!