confused

My mother tells me that she has Thalassemia minor. I was tested when I was younger (I've been anemic since I was about 10 years old, my RBC count is never normal) and was told that I have it too. My problem is that even my doctors don't seem to know anything about this disorder, and what little information I have found about it has left me confused about what I should do.

I never really even thought about this or worried about it until recently. According to the doctors and websites I have found, minor just means that I may be slightly anemic at times and that it shouldn't affect my health. The thing is, I've been anemic almost my entire life...and not just slightly. I had to drop out of softball when I was in middle school because of it, and then again in high school when I joined band and passed out during camp. I've never been able to concentrate very well...it's like my mind is always clouded. I'm constantly tired and have trouble staying awake during the day, even when I've had a full night's rest. This has just always been normal for me and I've learned to ignore it and do the best I can.

I don't currently have health insurance as I am a college student and living on my own, working part time jobs and such. I had to go to the health department a few months ago for birth control and when the nurse checked my blood, she gave me a very stern talking to about my RBC count...it was at 7. I told her this was normal for me and she couldn't believe it. She seemed very surprised and upset about it...maybe it was just an overly motherly southern woman type thing, I don't know...but she has had me very worried about it ever since. She told me that the normal level for a female is 13, and that if my RBC drops to half of that my heart could stop. Is that true? I have noticed it doing weird things, and it even hurts at times...but I could never figure out why. I told her about thalassemia minor, she had never heard of it. She prescribed ferrous sulfate twice daily. I've taken iron pills before and never noticed much difference exept that they made me even more nauseous than usual and I already have trouble eating. I really can't afford to loose any more weight, so I don't take them.

Last week I had a lot of blood drawn for testing - since then I have felt horrible. Today was the worst I have ever felt over this...I was so weak I could barely move. I feel like my mind is drifting in and out of conscienceness at times. So at this point, I'm pretty concerned.

So this is my major question: Should I take the iron? I've read in so many places that people with thalassemia shouldn't take it, as it won't do any good and can lead to iron overload. What I'm not sure of is what is causing my anemia. I wish I know what my RBC is at now...it must be pretty low. If I do take the pills, can it harm me? And if I shouldn't, then what else can I do?

Wow, your story has me worried too! 

You should go to a better hospital A.S.A.P. where thalassemia is treated and get tested to confirm that you have Thal. minor or intermedia etc.

Wishing you best of health and luck!

GO TO A THAL SEPCIALIST NOW!! DON"T WAIT ANYMORE!! Get someone whom you trust to bring you there. DON"T go alone!!

     Sorry you are having so much trouble. You sound like me back in the '70's. My college infirmary doctor gave me iron pills, too, and they made me really sick. I was supposed to have minor also. My hemo. was similar to yours, and eventually was in the 6 range.  It was 10 years later (and lots of health problems later),  before I got a diagnosis of thalassemia intermediate. Then it was about 10 years after that (and many doctors and clinics later), when I got help from a Thalassemia Center. I totally agree that going to a center where there are doctors who specialize in Thalassemia is the way to go. Spare yourself the pain and agony of going through years of inadequate healthcare. There are very knowledgable people out there who can help you.
     Depending on where you live, there are 6 centers of excellence in the U.S.: 

New York (contact Dr. Patricia Giardina - 212-746-3404);
Oakland, CA - (contact Dr. Elliott Vichinsky - 510-428-3372);
Philadelphia (contact Dr. Alan Cohen - 267-426-5336);
Boston (contact Dr. Ellis Neufeld - 617-919-2145);
Chicago (contact Dr. Alexis Thompson - 773-880-4618);
Los Angeles (contact Dr. Thomas Coates - 323-669-2352)

     .

     

The levels you have mentioned are your hemoglobin (Hb) levels. Your blood count or hematocrit would be somewhere in the 20's or 30's at your Hb level. An Hb as low as 7 is very unusual for a thal minor and is usually associated with thal intermedia.
From http://www.emedicine.com/PED/topic2229.htm

Patients with thalassemia minor rarely demonstrate any physical abnormalities. Because the anemia is never severe and, in most instances, the Hb level is not less than 9-10 g/dL

You mentioned they took quite a bit of blood for tests. Do you know what tests were being done. An electrophoresis test would be essential to determine the amount and condition of your Hb and would give some idea if you are a minor or major.
From http://www.medicineonline.com/medicine/Diseases_and_Conditions/Blood_Disorders/Thalassemia/Hemoglobin_electrophoresis/

Hemoglobin electrophoresis is a test that measures the different types of hemoglobin (Hb) in the blood. (See also hemoglobin; glycosylated hemoglobin.)

A blood serum ferritin test is absolutely required before taking iron supplements if you are a minor. Under no circumstances should you be taking iron if you are intermedia or major (you are definitely not a major), and only when your actual serum ferritin shows that you are indeed iron deficient, should you take iron if you are a minor. Iron deficient anemia can occur along with thal minor but is not common. Do NOT take iron until you have the results of a serum ferritin test. You mentioned that it is difficult to find medical professionals that understand thalassemia and that is very true. Are you in the US? In many parts of the US, thal is so rare that most doctors have never seen it and don't recognize it and when they do, often have no experience treating it and often wrongly prescribe iron as a remedy. This will not help if you have no iron deficiency and over time can contribute to iron overload in the body.

There are some things you can do to help yourself. Folic acid and vitamin E can both help with the amount of red cells and their overall health. For recommended amounts of these and other supplements, please refer to the post at http://www.thalassemiapatientsandfriends.com/index.php?topic=118.0

There is also the possibility that some other factor is at work here. The beta thal gene can cause serious problems when found with other genes such as The HbE gene or the Lepore trait.

Thank you so much for clearing that up, Andy. I've heard doctors refer to my hemoglobin and my red blood cell count so many times, I wasn't sure which was which. I'm going to hold off on the iron pills until I can have my ferritin levels tested (I have been taking them once a day, but only for a few days now).

I live in south Alabama...not anywhere near a major city. I do travel to Birmingham about once every other month, so I'll do some searching for specialtists in that area (should I look for a hemotologist?).

I don't feel nearly as weak as I did before, but I still don't really have any energy. Luckily, I work in an office so it hasn't really bothered me there, just doing housework and such. But my heart still feels like it's going crazy sometimes. Even now as I sit here typing I feel short of breath and my heart is pounding...it feels like it's beating irregularly. I have a friend who is an herbalist and I told him about my heart. He gave me a bottle of Hawthorne Berry and told me to take a tablespoon of that when it bothers me. That seems to calm it down a lot.

Thanks for all the advice!    Hopefully I'll be able to find a knowledgeable doctor soon and can figure out what is actually causing all of this and what I should do about it.

Hi everyone,

I'm sorry I can't remember if I was successfully able to post my proper introduction in the introductions thread, but as I'm afraid to lose this page if Inavigate away, I might as well post my query here already.   

I will be going to the U.S. with my husband soon and will be going to San Francisco, and New York. (We were both just diagnosed with alpha Thal trait after we lost our 8.5month baby after emergency C-section and some blood tests) However, if the best doctor for Thalassemia is in another state, we're willing to do a special trip.  Who is the best one among those mentioned in the quoted post?  Also, since it has been a long time since this posting was done, are there any new (best) doctors we should consider seeing?

Our interest would be: 
1.  to get a second opinion on our diagnosis of alpha thal trait
2.  what lifestyle/diet changes to make, etc.
3.  get genetic counselling/ be presented with options for having children

I'm thinking of consulting a hematologist and a geneticist as well.  Am I going the right direction here? I'm very confused. 

Thank you so much for all the help!

April

     Sorry you are having so much trouble. You sound like me back in the '70's. My college infirmary doctor gave me iron pills, too, and they made me really sick. I was supposed to have minor also. My hemo. was similar to yours, and eventually was in the 6 range.  It was 10 years later (and lots of health problems later),  before I got a diagnosis of thalassemia intermediate. Then it was about 10 years after that (and many doctors and clinics later), when I got help from a Thalassemia Center. I totally agree that going to a center where there are doctors who specialize in Thalassemia is the way to go. Spare yourself the pain and agony of going through years of inadequate healthcare. There are very knowledgable people out there who can help you.
     Depending on where you live, there are 6 centers of excellence in the U.S.: 

New York (contact Dr. Patricia Giardina - 212-746-3404);
Oakland, CA - (contact Dr. Elliott Vichinsky - 510-428-3372);
Philadelphia (contact Dr. Alan Cohen - 267-426-5336);
Boston (contact Dr. Ellis Neufeld - 617-919-2145);
Chicago (contact Dr. Alexis Thompson - 773-880-4618);
Los Angeles (contact Dr. Thomas Coates - 323-669-2352)

     .

     

Hi April,

The doctors you have listed are the heads of the Centers for Excellence at their respective hospitals. They are all excellent doctors. If I have to pick one center as the best, I will say Oakland and Dr Vichinsky, but they are all great doctors. Dr Vichinsky may also be the top doctor in the world when it comes to alpha thalassemia. At Oakland, thy have saved alpha thal major babies by beginning transfusions in the womb, as the baby will not survive until birth otherwise. I would suggest contacting Oakland first.

Thanks for the quick reply, Andy. 

Will check the U.S. geography first, then try to contact the best possible doctor we can go to. Let you know what happens!