Getting a diagnosis...

Hey everybody,

I'm feeling terribly confused and frustrated.

My doctor (a GP, internist)  told me recently that my bloodwork indicated I had a thalassemia trait.  I took this to mean I had thalassemia minor. 

But everything I have been reading about trait/minor indicated there should be no symptoms. 

The whole reason I had gone to my doctor was because I was experiencing dizziness and lightheadness for about two weeks...that's when she discovered I was anemic.

But now with the results revealing Thalassemia Minor/Trait and everything I am reading saying there should be little to no symptoms, I am confused.  I read here that some people experienced fatigue or endurance issues, but I didn't really see anyone talk about dizziness or lightheadedness.  And I wonder if there is something else wrong in addition to the thalassemia or if the thalassemia could cause this.

I guess what I am starting to wonder is...can a regular doctor diagnose this properly?  Should I have been referred to a hemotologist?  Should I seek one out on my own? 

Thanks for any thoughts or suggestions you might be able to offer.

dahlia

Hi Dahlia,

Thalassemia trait and minor are the same thing. I recently posted in a new section of our board, about the basics of thal minor and intermedia (still working on major). As you will see, we do not believe that minors have no symptoms. If you go through the thal minor section of the site, you will see countless stories, similar to yours. Thal minor does not get much respect from doctors but patients know all to well that there are numerous, quality-of-life issues with thal minor.

From my recent post at http://www.thalassemiapatientsandfriends.com/index.php?topic=1575.0  please read the entire post for more information.

Thalassemia minor can have many symptoms, even though most articles on the subject will say that minors have nothing more than mild anemia. Unfortunately, this is not true. The effects of minor can be substantial. Many minors have no significant symptoms, but others have many symptoms that greatly affect the quality of their lives. Among the reported symptoms are anemia, tiredness, weakness, numbness in the extremities, hair loss, slow thyroid, low immune systems, feeling cold, lightheaded feeling, and depression. In some cases, enlargement of the spleen and even excess hemolysis (premature destruction of red blood cells) may also be noted.

Most doctors are befuddled about thal minor and give few if any recommendations. Often, doctors mistakenly prescribe iron supplements when they see the low hematocrit level. However, unless iron deficiency coincides with the thal minor, iron will not help and long term usage when not needed can cause problems, including damage to organs. Iron deficiency should be verified through iron studies, which include the serum ferritin test, before iron supplements are ever taken.

Most regular doctors do not have enough experience working with thal patients to already have the necessary knowledge. They can learn and some will take the step of seeking out more information. The doctor for Lisa, who was the founder of this site, came to our site to learn more about thal. There is a wealth of information on the internet if you know how to look for it. Your doctor should make some attempt to understand the implications of thal minor and apply this to you as a whole. I would agree that you should see a hematologist at least once. I assume that you have already had some blood work done. If you can find a thalassemia familiar hematologist, it may be of some benefit to have your results looked at, but don't expect too much. Most doctors are under the impression that minor does not have many symptoms so please inform your doctors that you believe yours are related to thalassemia and that many other minors have similar symptoms. If the patients don't ever educate the doctors, they're going to continue to preach the same old line that there are no symptoms. If enough patients speak up, we may finally see some awareness in the medical profession that thalassemia minor does have symptoms in many carriers.

Andy,

do you think hg F inducers would be beneficial to thal minors?  such as wheat grass or even the Hemaquest drug? 

Yes, wheatgrass can have benefits for thal minors. I don't know if the HbF inducing drugs would be offered to minors, but if the Hb level is quite low, it might be a possibility. Minors should take a natural approach and use folic acid, wheatgrass, B vitamins, vitamins E and D and moderate exercise to improve theri circulation.

Hi dahlia,

You can get a lot of information in the threads under our Thal. Minor section of our main page.

In one of the threads we had a discussion about the fact that Thal minors are now being classified in further two categories one is Thal. Minor and the other is Thal. Minima

We've established that there are many Thals. Carriers/Trait who go undetected and they have no effect in quality of life. This kind of Thal. is now being (and should be) referred as Thal. Minima (People with no symptoms) while the Thal. Minors are those who do have the symptoms like fatigue, dizziness, low energy levels and in some cases splenomegaly.

Thanks for the feedback, everyone. 

So it seems you think the diagnosis by regular doctor was probably correct. I think I am going to see if there are any hemotologists familiar with thalassemias in the area, simply because I feel my doctor isn't addressing why I went to see her in the first place.

It seems when I get sick, my body takes a drastic turn for the worse.  Over the past several years, I have passed out, experienced EXTREME fatigue where I slept for more than should be normal and this year I had two weeks of lightheadedness and fatigue for over a month coupled with chest pains and shortness of breath. 

It just seems that there must be some way to avoid this if it seems to be happening on a recurrent basis when I get sick.   

People I know get sick for a few days or at most a week, but I seem to be suffering for several weeks.  I'm not sure if this is related to thalassemia, but I feel it is something my doctor should be able to help me with.

HELP!

I felt funny starting a new thread about this, but I hope someone reads it in here.

I am absolutely getting a new doctor.

I just had an awful and confusing discussion with my doctor.  What are ferritin levels SUPPOSED to be and how do I know if I should or should not take iron supplements?

Normal ferritin for a woman is  20-120 ng/mL

If yours is a borderline low reading, you should see the results of complete iron studies before taking iron supplements. These are what should be tested and what normal levels are.

http://www.healthatoz.com/healthatoz/Atoz/common/standard/transform.jsp?requestURI=/healthatoz/Atoz/ency/iron_tests.jsp

Normal results

Iron level test

Normal serum iron values are as follows:

    * Adult males: 75-175 micrograms/dL

    * Adult females: 65-165 micrograms/dL

    * Children: 50-120 micrograms/dL

    * Newborns: 100-250 micrograms/dL.

TIBC test

Normal TIBC values are as follows:

    * Adult males: 300-400 micrograms/dL

    * Adult females: 300-450 micrograms/dL.

Transferrin test

Normal transferrin values are as follows:

    * Adult males: 200-400 mg/dL

    * Adult females: 200-400 mg/dL

    * Children: 203-360 mg/dL

    * Newborns: 130-275 mg/dL.

Normal transferrin saturation values are between 30-40%.

Ferritin test

Normal ferritin values are as follows:

    * Adult males: 20-300 ng/mL

    * Adult females: 20-120 ng/mL

    * Children (one month): 200-600 ng/mL

    * Children (two to five months): 50-200 ng/mL

    * Children (six months to 15 years): 7-140 ng/mL

    * Newborns: 25-200 ng/mL.

Abnormal results

Iron level test

Serum iron level is increased in thalassemia, hemochromatosis, severe hepatitis, liver disease, lead poisoning, acute leukemia, and kidney disease. It is also increased by multiple blood transfusions and intramuscular iron injections.

Iron levels above 350-500 micrograms/dL are considered toxic; levels over 1000 micrograms/dL indicate severe iron poisoning.

Serum iron level is decreased in iron deficiency anemia, chronic blood loss, chronic diseases (lupus, rheumatoid arthritis), late pregnancy, chronically heavy menstrual periods, and thyroid deficiency.

TIBC test

The TIBC is increased in iron deficiency anemia, polycythemia vera, pregnancy, blood loss, severe hepatitis, and the use of birth control pills.

The TIBC is decreased in malnutrition, severe burns, hemochromatosis, anemia caused by infections and chronic diseases, cirrhosis of the liver, and kidney disease.

Transferrin test

Transferrin is increased in iron deficiency anemia, pregnancy, hormone replacement therapy (HRT), and the use of birth control pills.

Transferrin is decreased in protein deficiency, liver damage, malnutrition, severe burns, kidney disease, chronic infections, and certain genetic disorders.

Ferritin test

Ferritin is increased in liver disease, iron overload from hemochromatosis, certain types of anemia, acute leukemia, Hodgkin's disease, breast cancer, thalassemia, infections, inflammatory diseases, and hemosiderosis. Ferritin levels may be normal or slightly above normal in patients with kidney disease.

Ferritin is decreased in chronic iron deficiency and severe protein depletion.

Thal minors can also be iron deficient. I imagine as often as non thal carriers. If you do prove to be iron deficient, diet is recommended over supplements if your iron is not extremely low. The doctor, will of course, always recommend iron supplements.

Thanks so much, Andy.

I'm still confused as ever by my doctor, but you are a lifesaver!!!!!!!

As I mentioned earlier, I was thinking of going to a hemo cause I wasn't feeling confident about my doctor's diagnosis or that she was really listening to me about the way I have been feeling lately, especially when I get sick.

Anyway, I did want to give her the benefit of the doubt so I was waiting to talk to her after she sent me a copy of the bloodwork which said I had a thalassemia trait and that I should eat iron-rich food but that there was no need for iron tablets.

So, I still wanted to talk to her because it didn't DEAL with what brought me to the doctor in the first place, didn't tell me much or say anything about my low platelet count.

Strike one:  She didn't tell me about genetic counseling AT. ALL.   Had I not read about it on this site and others, I would have no clue.  She said if I got pregnant, I should discuss with my gynecologist because of high incidences of anemia in pregnant women, but that was it.

Strike two: When I  asked about my symptoms and the problems I have been having when I was sick, she told me I should eat iron rich foods AND take iron supplements (which of course confused me because of what she said on the initial report and what I had read about iron supplements and thal.  So I looked at my ferritin reading and said, " So 19.2 is a low ferrritin level?" and she said, yes, we like to see it in the seventies or eighties. So you should take iron tabs.  Now, if I am reading what you wrote correctly, it seems I shouldn't-

TRFN 300
IRON 128
TIBC 420
Ferritin 19.2

Strike three: When I asked about my low platelets, she said, yeah they shouldn't be that low and it was strange they dropped so much since my last blood test and I should have them checked again.  But that was only because I asked.

I reallly appreciate all of the help.  Right now it seems this site is my best source of information.  I'm very unsettled by that convo, but I am thankful for the information I have gotten here.

-dahlia

Hi Dahlia,

Your ferritin is the only reading on the low end. Iron rich foods should be all that is required to raise it. Take some vitamin C with your meals and it will aid in absorption. From what other minors who are iron deficient have said, I think you will be able to tell by the way you feel after a high iron meal if it is helping. I do also think you should be retested to check your platelet count. That test in particular is misread at times in thal minors because of some confusion over which are irregular red cells and which are platelets. I do think a hematologist may be able to better interpret your test results than your family doctor. I don't know if you need to change doctors and feel you shouldn't base it only on this, as most doctors just don't have enough experience with thal minors, as is demonstrated by the lack of mention of genetic counseling.

Anyone who knows they are a thal carrier or even suspects it, needs to be aware that their partner should also be tested. When you talk to parents of majors, you quickly see how much they wish they had known this in advance. Doctors need to be aware of this need and should always explain the risks to their patients and the need for testing of partners before conceiving. It may be up to patients to make doctors aware of this, rather than wait for the coming boom in thal major cases as emigration brings carriers to areas where thal was almost unknown. There has been an explosion of cases in the US in states such as California as Asians have immigrated to the US and married and neither parent is aware of their carrier status. Doctors need to be aware of this as it can prevent many cases of thal major.

Thanks again, Andy

You've been MOST helpful.  I really appreciate it beyond words.

I started calling around about hemos today and now I have to wait for return calls, lol.

I really couldn't believe that she didn't bring up genetic counseling, and then I was even more shocked when she waffled on her advice and suggested iron tablets.

Is thalassemia considered rare? or is it fairly common?

Thalassemia trait is far more common than realized. It is estimated there are at least 40 million carriers in India alone. It is estimated that there are hundreds of millions of thalassemia carriers in the world. It is most common in the malaria zones of the world, as it gives some protection against malaria and during malaria epidemics, it has been thal carriers who were most likely to survive, leading to a higher concentration of carriers in those areas. Although it is also known as Mediterranean anemia, it is also common all through the warmer areas of Asia.

If doctors brought up genetic counseling there would be a lot fewer thal majors born. A worldwide education and awareness effort needs to be initiated. Too bad the  international organization doesn't do it, but I am sure they're very busy arranging deluxe accommodations for the Singapore conference. I guess that leaves it up to us to do the educating.

Hey everybody....

I'm just wondering if anybody here has had trouble getting a diagnosis.

I went to the hemotologist today, and he said my gp couldn't "diagnose" thalassemia without an electropheresis (not sure about that spelling, lol) test so he wasn't so sure that was wrong with me.

I thought the MCV was used to diagnose thalassemia (which my gp did say was low)...

but now I am feeling more confused than ever.

Soooo, he's running the test amongst others...

Electrophoresis will diagnose thalassemia trait in most people. It breaks the hemoglobins down into the different types and the results will tell you if you carry thal. It is usually done after preliminary tests suggest there may be something. MCV gives an indication but your levels of the different hemoglobins will give you a true diagnosis. Anyone suspecting thalassemia should have an electrophoresis test done.

Okay, that makes sense.  It sounds like my first doctor should have referred me to a hemo, rather than just saying, you have thalassemia minor.  I'm glad I went so I will know for sure.

This hemotologist did also say, if I did have it, it would be asymptomatic, so I feel like he isn't going to be able to help me much, which I find upsetting because I really want to avoid 2-month long illnesses and I'm frustrated in that I am still struggling to get my energy levels up to where they used to be.

Thanks for your help, Andy.  You have a wealth of information that's very helpful.

dahlia