Hello - I'm new here

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Hello - I'm new here
« on: June 16, 2007, 05:15:03 PM »
Hello all,

I am rather new to this forum.  I found it after having a more accurate diagnosis of my Thal. Minor.  My family was tested back in the late 60s at the Univ. of Michigan and diagnosed as Beta Thal. minor trait.  My father carried the gene, however my sister has a letter, dated 1970, from the UofM asking for further testing for my mother, but apparently this was never done.  My mother and father are both deceased.  Before we were tested at the UofM, we were diagnosed with anemia and my brother and sister were given iron.  My brother apparently never took them, but my sister who did take them now has permanent damage to her digestive system.

My sister has had major problems from the Thal for most of her life.   Fatigue, low hemoglobin, very yellow skin.  I on the other hand, have not had noticable symptoms until about 5 years ago at the age of around 48.  At that time I had a good gyn. doctor that immediately recognized that I was having problems and sent me to a hemotologist in the area.  Blood work was done and here were the results:

H & H :  9.9 and 32.7
MCV:     81
Platelet:   241
Hemoglobin A:  76.7%
Hemoglobin A2:  3.2%
Hemoglobin F:   20%
Iron levels:  242
TIBC:   280
Ferritin:  191
Reticulocyte:  2.7%
Haptoglobin:  <9
LDH:  224
Total bilirubin:  1.7

Hope that wasn't too much detail, but there are very knowledable people on this site that understand all these numbers better than I do at the moment.

At my first visit I was told to take folate acid at 1mg a day.  My hematologist, has been very interested in my case, and has been persistant in having me come in quite often.  The test shows that my LDH have been increasing slightly to around 350.   I was asked to take an MRI to scan the liver in 2005, which did show diffusedly diminished signal throught the liver consisten with iron overlad/hepatic hemosiderosis.  A liver biopsy was suggested but I declined.  The findings were reviewed again and they were thought to be secondary to extramedullary hematopoiesis.  Based on what I understand, my levels are too low to cause significant hepatic iron overload.  And I'm just not willing go undergo any unnecessary hospital procedure.

After that initial visit, blood tests showed that over a few years my hgb increased to 10.1 and is now at around 11.

Then in Nov. of 2005 I was asked to see the head of the Hemotology/Oncology department, Dr. Eric M. Mazur.  And I discovered the difference between a practicing Dr. and one who is more administrative.  My hemotologist, Dr. Richard Zelkowitz, is very sweet, but I call him "Dr. Hit and Run", because he never has enough time to answer all my questions and I always leave his office with more questions than answers.  But Dr. Mazur had the time to sit me down (over an hour in his office) and go through as detailed as possibile, explaining my Thal.   And here is a snipet of his report. 

"The patient presents with an unusual thalessemic syndrome characterized by mild anemia, mild micrcytosis, mild chronic hemolysis and a significantly increased hemoglobin F level of 20%.  This appears most consistent with delta/beta thalessemia, although its presence in a woman of northern European heritage is unusual. In addition, the patient's hemoglobin A2 rather than reduced, is consistently at the upper limits of or just above normal, ranging between 3.2 and 3.4%.  In delta/beta thalssemia, HB A2 levels are usually decreased to normal.  Given the atypical features of the patient's thalessemia, I have called Dr. Bernard Forget (Yale University) for informal consultation given his national expertise in the thalessemic cyndromes.  I do not think that the patient's hemoglobin is low enough to account for her fatigue or her other systemic symptoms."

My dr. finally decided to have me go see Dr. Bernard Forget at  Yale Univ. Hospital.  He is a research dr., and was rather refreshing since he had a bit more knowledge and time to answer my questions.   He had Mayo Clinic test for concomitant herditary spherocytosis and that was ruled out.  He thought it was time to do DNA testing, however that is on hold at the moment until I can find out if my insurance company will cover the cost.

Once again in his report he says:  "The patient also is concerned about her persistent fatigue and she somehow relates it to her low hemoglobin and hematocrit. Looking back into her medical records, her homoglobin and hematocrit have remained stable for many years.  We believe that her fatigue is probably not related to her mild anemia."   Also, "Dr. Forget spoke to the patient at length and discussed diagnostic possibilities for the hemolytic component of her apparent beta thal. intermedia syndrome."  That was something that definitely made me sit up and listen and eventually lead me to this forum.

I do have hypothyroidism, but have been on medication for quite a while and that seems to be working.  But I continue to have quite a bit of fatigue, need to sleep long hours, need to nap from time to time, migraines, lack of tolerance of hot days, some very foggy days, inability to have good concentration, and dehydration.  I've had to cut back on my activities quite a bit.  I used to ride horses a lot, but I'm now down to trail riding from time to time, and many times I just feel like taking the horse for a walk.  I am fortunate that I don't work a full time job, but I have been very busy with having a new house built for the last year (we are in the final stages.)

After reading many posts on this forum, I am not convinced that there is some other problem I am dealing with other than my Thal. that causes this amount of fatigue.  I do believe that peri-menapause has something to do with it, but I must say, that area is a huge dark hole with doctors.

Well, that is most of the information about me and Thal.   I must take this moment to thank all the people who willingly commit their time and energies to helping people like myself.

I have so many questions, but do not have the time right now to ask them.  I'm getting ready to go to Europe with family in two days.  I'm actually kind of dreading this trip.  I do not sleep well when I travel even locally.  I have been on Amitriptyline for a few years and that has helped me at home, but not as much when I travel.   My husband has been very supportive, but he loves to travel to distant places (and I do too), but I dread the thought of going to distant lands in a fog and trying to just survive the day without getting too sick.  Ugh.

Joan

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Offline Zaini

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Re: Hello - I'm new here
« Reply #1 on: June 16, 2007, 07:21:13 PM »
Hi Joan,

 :welcome to the forum,rest be assured that you have found a perfect place to get your answers,Andy is very helpful and knowledgeable,me myself is a thal minor,and have experienced fatigue most of the times,Happy Traveling,  :biggrin  I hope everything will be ok with you.

LOVE,

ZAINI.

^*^Xaini^*^

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Offline Andy Battaglia

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Re: Hello - I'm new here
« Reply #2 on: June 16, 2007, 08:30:55 PM »
Hi Joan,

I agree with Dr Forget that DNA testing is the correct step to take to try to understand your condition and which steps can be taken in regards to treatment. Your insurer needs to understand that this would be the best way to determine an eventual treatment.

It is open to dispute that your Hb hasn't been low enough to cause your symptoms. We have so many minors with similar Hb levels who also have similar problems. I also would be curious if your high HbF level may be a factor, since HbF is not as efficient as adult Hb in delivering oxygen to the cells. I would like to know what the doctors say about this, as HbF can be very useful to people with low Hb levels, but since it is not as efficient as normal Hb can this make a difference in symptoms?
Andy

All we are saying is give thals a chance.

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Offline Christine Mary

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Re: Hello - I'm new here
« Reply #3 on: June 17, 2007, 06:46:11 PM »
Welcome Joan!!!

 :hugfriend

I'm a mom of a thal major.She will be 10 months in 2 weeks. Unfortunatley I, too, am learning as time goes by about thal and all of the stuff that goes along with it.
So, I cant offer you too much advice,but I can tell you that this site has helped me tremendously by teaching me and guiding me on thal. You will love the people here, just as much as I do!

They will be your extended family....  you wait and see  :biggrin



Lauryn's Mom

Re: Hello - I'm new here
« Reply #4 on: June 19, 2007, 05:35:18 AM »
Hi joan,
welcome to the site,hope you find all the info u need to help you & make plenty of great friends along the way! Best wishes  :biggrin

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Offline Lyanne

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Re: Hello - I'm new here
« Reply #5 on: June 19, 2007, 11:33:00 AM »
Hi Joan,
  Welcome!!!!!! I know you have come to the right place, Hope you find this site helpful and hope to hear from you always..............Take care!
LYANNE :yahoo

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Offline AL

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Re: Hello - I'm new here
« Reply #6 on: June 20, 2007, 05:52:28 AM »
Hi there! welcome welcome,,frankly speaking i'm new here too but it helps a lot! there are so many friends in here who are friendly and willing to help others, and offcourse they are experienced as well.

Welcome Aboard

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Offline Danielle

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Re: Hello - I'm new here
« Reply #7 on: July 01, 2007, 11:27:15 PM »
Hi, Joan!  Welcome to the site!  Good to see you posting with us.   :hithere

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Offline jzd24

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Re: Hello - I'm new here
« Reply #8 on: July 09, 2007, 02:24:30 PM »
Hi Joan, good to hear from you. This site has many very knowledgeable and intelligent people who are extremely helpful. Everyone is so supportive. Good luck with your trip. I agree that traveling can be difficult for anyone with sleep or fatigue issues. Hope things go well. Jean

Re: Hello - I'm new here
« Reply #9 on: July 12, 2007, 07:18:48 PM »
Thank you all for your encouragement.  My trip went well, even with very hot weather.  I was able to sleep which helped a lot!

I do appreciate the problems people are having with doctors.  This site has been extreemly helpful.  While I do have a good Hemetologist, when I ask him questions he usually answers me at a level that is hard for me to understand.  I had a visit with him a few days ago, and I gave him the report from my January visit with Dr. Forget (a Thal. specialist at Yale), and as he was reading it he made the comment that it was written for morons.  I politely told him that it was easy for me to read and understand.  I hope he got the hint.  I suspect not.

Andy, I did not ask your question about the HbF.  I just felt he wasn't going to give me a good answer.  I did have a Gyno. that said that HbF is more effective at high altitudes.  She didn't say why.  Any thoughts?

Joan

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Offline Andy Battaglia

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Re: Hello - I'm new here
« Reply #10 on: July 13, 2007, 02:54:15 AM »
Hi Joan,

Fetal hemoglobin has a higher affinity for oxygen than adult hemoglobin. This is how the baby is able to draw oxygen from the mother's hemoglobin while in the womb. The HbF is able to attract oxygen from the mother's Hb because it attracts oxygen better than adult Hb, so the oxygen is drawn thriough the placenta into the fetus.  At high altitudes where the air is thinner and there is less oxygen, hemoglobin with a higher affinity for oxygen would attract more oxygen. This is why HbF would be more effective at high altitude. This leads to why HbF is not as efficient as Hb in delivering oxygen. The higher affinity for oxygen also means that it doesn't give up the oxygen as easily as Hb does. This is why I am curious about your high HbF level and if that could contribute to your fatigue.

I do not like the attitudes some doctors adopt in regards to access to medical information. Information should be presented so that patients can understand it (something we strive to do here) and not so that only someone who has been to medical school can decipher. Patients who understand their own bodies and what goes on inside are better equipped to do the things that will enhance their own health. A good patient can make a good doctor better. I am so glad you told him how you felt about the report, and I also hope he takes the hint. Dr forget should be commended for making sure the information in his report was written to be understood.
Andy

All we are saying is give thals a chance.

 

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