New Thal. Minor Diagnosis

Hi Kathy,
It's me again.  I am so intrigued with what is happening with you.  wheresbouts in Australia are you??  Once Christian was diagnosed with what I'm presuming you have, doctors went all out and told us about the seriousness about it.  The heart disease and all you are experiencing are the sickle cells blocking the flow of blood to your organs.  Christians pain episodes were so bad that he would be put on morphine and that didn't seem to do much at times, so i can understand the exasperation you are feeling.  Christian is on regular blood transfusions now.

Kathy, you're right in saying here in Australia they don't know much about sickle cell, but your thal minor and sickle cell, manifests itself as a sickle cell disease patient.  Please check out some sickle cell disease forums.  the people on the websites understand what you are going through.  Don't get me wrong, i love this website because christian is on regular transfusions and will start chelating soon so this information is valuable, but the intense pain and feeling that your body is shutting down are all symptoms of sickle cell disease. 

So where are you.  In Sydney???

Thinking of you
Vicky

Hi Kathy,
     I wish we could get you to a Thalassemia Center somewhere and get some good testing done. I know that in the U.S., at these centers, some of the testing is free because of research studies. Are there any centers like this in Australia that you could go to? I know you are fed up with the medical profession, and I don't blame you after how they have treated you, but I still wish you could get some answers. 
     Just know that we are here for you, and we support you. Love, Jean

Jean: do you have a listing of these centers, or do you know where / how I can get a listing? I am still waiting to get an appointment for Nina with a specialist. If FEELS like it is taking FOREVER!!
Thank you
Debbie

Debbie,

Please look under treatment centers on our board. Every comprehensive care center in the US is listed there.

Hi Vicky.
I am so happy to hear you telling me about sickle cells. Ive done some research about sickle cells and I guessed that what is happening with my organs  but Ive been trying to explain to my doctor and it has fell in death ears.They all seems to think I crazy at a point that I dont go for help anymore, even when I am in terrible pain.The other nite I was in so much pain the thought of death cross my mine .I took pain killer then slept for two days,I must have overdose myself.
Finally, I meet a person that undestand and I so glad.I will e-mail you with my details  I'm in Perth far from sydney. Thank-you   so much
Regards
Kathy

Canadian Family,

As is often the case with specific genotypes there is very little useful information to be found about the effects of the mutations. Patients with homozygous IVS-I-(-1) G>C beta zero-thalassemia mutation often have a severe form of major, but it appears that the effect in heterozygous minor is very hard to predict. This genotype is often found in northern Indian and Pakistani populations. It has been documented and observed as as severe when both genes are affected but because the output of hemoglobin from the normal gene is variable, the effect on the minor patient can vary greatly. I would suspect that the low Hb in this case is directly related to this gene. However, as long as no other gene such as alpha thal is involved, it is most likely that you are already seeing the full effect of the mutation. An Hb of around 10 will cause noticeable anemia but the overall long term effect will depend on the patient's ability to deal with a lower Hb level. Diet, nutrition and exercise can play an important role in maintaining good health at Hb levels in this range. Do not underestimate the role parents can have in maintaining good health in a child with this Hb level. I would say the child is definitely a candidate for long term usage of wheatgrass in tablet or extract form. Even if there is no noticeable effect on the Hb level there may be a positive effect on overall health and energy levels.

Hi Debbie, I'm Court's Mom. My daughter is a Minor also... however, as Andy has stated... there is much to learn, understand and digest since even the medical community is learning more every day about the plight of thal minors. If there is any ONE person to guide you through this, it is Andy. Most speak from experiences... good and bad.... but Andy ... what can I say, he is extremely educated on the topic and on target!
Court has had her share of medical problems from a young age. I do believe now that it was due to her compromised immune system, however, she was never tested for that. Back then, they just said flu, virus... whatever, but never did bloodwork on her. Even when she was 3 and almost died (I had her in the hospital 2x and mds 3x), they never tested her blood, just told me to let whatever run its course on her fraille body and keep fluids going. Finally, when a doctor wanted to test her for lukemia (no swollen glads anywhere, no sore throat, no signs of ear involvement, but she maintained high fever of 102-104, didnt eat, had to force her to drink with straw and limp, couldnt walk on her own for over 1 week), I asked if he would at least give her an antibiotic until her father returned from out of town... and low and behold... within 12 hours my daughter was 1/2 back to good health! Of course, looking back is 20/20... but you have the ability to have this knowledge NOW... which is wonderful for your little princess.
Court was a pixy as a child, extremely thin, pastey white... we couldnt wait for her to get some hips to keep her pants up! LOL However, that changed with puberty and that was another chapter... so there are stages sometimes to this... almost levels or layers???
I'm not sure how much she has disclosed, so I wont go further here, but I will say... since I know this board does know... she had her spleen removed Monday. She had returned home, only to have to return to the hospital 1 day later due to pain/exhaustion/breathing problems.... she is currently recovering slowly, but with specialists that are giving her that added attention that thal patients need... ie: blood counts monitored.
I too am just learning things about thal, even though I AM the thal minor parent. It's a bit late for me... but I am learning with all of us.
One thing is for certain, find a MD that has knowledge about thal minor and who will make sure all the "i" are dotted and "t" are crossed when caring for your little one. Findingn out early should help make the right decisions.
Take care and God Bless All of You!  
Court's Momma... Geri

Hi,

Wishing Courtenay a fast recovery and best of luck for the future!



Take care, Peace!

I would appreciate some help.  My 2 year-old daughter has been sick off and on for months.  I asked for blood work back in August of '06 and it came back with abnormal cell morphology and low mcv and mchc.  The doc. said it was "nothing to worry about."  I asked for blood work in November because she was not getting any better and the results were the same.  Come January of 2007 I asked for blood work yet again.  This time the doc said "interesting results."  She tested positive for the Epstein Barre virus.  Here liver enzymes, biliruben, and other results were very high.  And once again her mcv and mchc were low with abnormal red cell morphology.  I was told not to worry because she had mono.  At the beginning of Feb. I took my dtr. to a new pediatrician who reviewed all previous labs and did a new CBC.  He said diagnosis Thal. Minor and iron def. anemia.  He put her on iron and retested her 1 wk. later.  The iron improved her blood for the iron defeciency anemia.  He said two factors were present.  One being iron def. anemia and the other being the thal. minor.  My questions are as follow.
1.  I believe I should take my dtr. to a hematologist.  Is this typically done with a thal. minor?
2.  I don't believe a doc can know which thal a person has just by a cbc or can he?
3.  What blood work should I be asking for?
Please someone help me with these questions. 

hi vertigo...
i just noticed your post today...sorry it seems no one responded to you yet....how have you been??
well,  in my opinion asking to see a hematologist for your daughter is important and it would definitely give you some much needed answers to all your questions.  regular family dr.s sometimes aren't as up on thal as we'd like them to be.
a cbc can not tell which thal your daughter has.  there are other tests that need to be done to find out.  do you know if it was you or your spouse handed this gene down to your daughter?  it might help to get both of you tested as well to find out if you haven't already   family history is a big part of the type of thal your daughter has.   
cbc tests are good to stay on top of your daughter's blood counts and to make sure she doesn't get too low.  ask for an electrophoresis (sp?) as well.  i'm sure other people on these boards can better answer the question as to what tests should be done.  just start with the basics with a hematologist and go from there!  good luck with everything!!
take care!

Hi,,

hey dears,, this all is really very confusing,i've had thal minor all of my life,, though i was acknowledged only three years ago and i m 26 right now,,but every single doctor here told me that there is nothin g to worry about,, though i often had a low hb ,,,and in my first pragnancy,,,after delievering my baby my hb was 7.2,,,but my gyn loaded me with iron and said i was only anemic,,, and when i came to knew about my being minor ,i.e when my daughter was diagnosed with thal major,,,every doc said that being thal minor was not a problem,,,and now all of this,,, i am confused,,how am i to confirm wether i am a minima or a minor?and do i have to take any kind of extra care?though both of my pragnancies were very difficult,, i experienced pain in my whole body through out my pragnancy ,,i was always stressed,,cranky (i am really afraid of getting pragnant again ) and even without pragnancy i am always having a pain here and there on daily basis,,,half of my time i m tired,feeling like not having enough oxygen,,,a bit suffocating,,and i think that there is something wrong with my metabolism   because even i stop eating i am gaining weight,,and exercise won't do much good,my menstruation cycle is not normal and i am having a polycystic ovaries syndrom,,is this all due to being thal minor (or minima,,as i am not sure)believe me i was very afraid when i read about courtenay having removed her spleen,,i wish i had joined that site much earlier,,, anyways i think anyone of u would be able to give me some information,,,oh and yes,,,get well soon courtenay  i wish u a speedy recovery,,

take care of urselves all of u

TATA,

Zaini.

Hi Zaini,

Has your thyroid function been checked? A low thyroid can cause weight gain and sluggishness. It's a simple blood test and the results will be back in a couple days. If you haven't had yours checked, do so. Low thyroid is corrected by taking one little thyroxine pill daily.

though i was acknowledged only three years ago and i m 26 right now,,but every single doctor here told me that there is nothin g to worry about

This needs to change and the best way is to spread Awareness. Especially, the doctors should know about Thalassemia(Minor) can create a problem when it comes to family planning. This is very important in high risk communities.

my menstruation cycle is not normal and i am having a polycystic ovaries syndrom,,is this all due to being thal minor

I do NOT think this is related to Thalassemia. Polycystic Ovaries are found in many non-thals too, but that could be one reason why you are gaining weight

Zaini --> you should talk with your siblings about them carrying the Thal(Trait) too. There are 25% change of your siblings also carrying Thal(Trait) and similar to you if they are left Undiagonised, they can be in a similar problem like you

Hi,,

thanx for ur replies,

Hi Zaini,

Has your thyroid function been checked?

No Andy my thyroid function has never been checked,,not a singl doctor suggested me that ,,though i think i'll get it checked now u hv suggested it,thanx again .

Zaini --> you should talk with your siblings about them carrying the Thal(Trait) too. There are 25% change of your siblings also carrying Thal(Trait) and similar to you if they are left Undiagonised, they can be in a similar problem like you

Yes Narendra,,i talked my siblings about them carrying the Thal(Trait),,when i came to know that i am a minor,as my sis is unmarried and my bro is married,,my sis heard me and got the test ,,she is not minor, ,but my bro didn't listen to me,,he has two kids,,,and they are normal,,so he is not worried,,though i still suggested otherwise,,coz he is most of the time ill and complaining,,but he won't listen, ,anyways i'll try to persuade him again ..Thanx for caring,,

Thanx again

LOVE TO U ALL 

ZAINI.