Hemoglobin Variants: Are You Really A Minor?

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Offline Andy Battaglia

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Hemoglobin Variants: Are You Really A Minor?
« on: November 18, 2006, 06:32:39 PM »
I would like to start a discussion about a subject that has been for the most part, neglected by doctors and researchers and I hope everyone with anything to say will join in. Since this work has been mostly neglected and is touched on almost only by association with other studies and there is such a demand for information, we should do what we can to further understanding of this topic, with the hopes that those who have been told they are minors and won't have any problems, can finally get some answers.

When we look at thal minors we see a variety of symptoms that run from barely noticeable to transfusion dependency. Can a minor really need transfusions or is there more than one beta thal gene at work? Perhaps in the case of beta zero thal minor a patient may need transfusion and even if not, may suffer some harsh symptoms, but what about all the other people who are told they have minor and that it shouldn't be a big deal, but still have significant health and quality of life issues? What do we tell the Kathy's of the world who obviously have significant health issues that are thal-related but as of yet, have not been explained or treated? How do we explain Jean's intermedia, so that a patient doesn't have to wait over half a lifetime to get proper treatment? How do we get the information to someone like Courtenay, who was told that minor will not pose any problems, only to discover the existence of another gene that can lead to serious problems and even death during pregnancy? Can these cases be adequately described as minor?

OK people, thal minor has been virtually ignored and minors have even been sometimes mocked by others who feel that minors should be happy to not be majors. The time has come that some attention be paid to minors and the sometimes significant health problems that arise from minor.

My feeling is that in many of these cases of unexplained symptoms that other genes come into play. There are over 900 known hemoglobin gene mutations. Over 200 of these are classified as thal related mutations. Only about 25% of these 900 genes have been ruled out as possibly thal related. That leaves hundreds of other gene mutations that may also be thal related. Many of these mutations have only been discovered in recent years and little is known about their effects, either by themselves or when combined with the beta thal gene. As researchers continue to unravel these mysteries, more will become apparent as this information is crossed-referenced using software programs that may someday be able to predict a person's condition by their genetic makeup, and to also design treatment specifically for that patient. This is not really some distant ideal as this work is already begun and shows great promise.

I would like to start a discussion about thal minor and also the involvement of other gene mutations and their role in the severity of symptoms. I will be posting any relevant information as I find it and I hope that anyone with info or questions will participate. If you know you have an unusual combination of genes and are called a minor, please post and describe your condition to us. Is your condition different from what you were told it would be? What types of symptoms do you have? Have you ever undergone testing for related hemoglobin mutations? Has it ever been suspected that something besides minor is at play? Have you ever gotten any answers that made sense? There are many questions so please feel free to participate

We can begin what the medical profession has been slow to undertake. Let's talk about minor in the context of it being a serious enough problem to address. Many minors have few if any problems but many others suffer daily and perhaps there are things being overlooked that could lead to better diagnosis and treatment of minor. Let's do our part to get this discussion moving. We do not exist in a vacuum and what is written here, will be available to anyone looking for information and hopefully can bring a voice to the many minors suffering, but being ignored.
Andy

All we are saying is give thals a chance.

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Kathy11

Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #1 on: November 19, 2006, 12:09:24 AM »
hello Andy.
Where I'm concerned,I would be happy if only these Doctors did find the time to investigates and explain what was going on with me .what confuses me is I know i'm sick but the doctors keep on denying it.they comes up with with all kind of silly diagnosis,got me worried and often reach  for their prescription and fill me with all kind of drugs so that I dosed off and keep quiet :rotfl :rotfl :rotfl I find it laughable if I wasn't so cross with them.
First of all I feel that we need to have doctors trained to detect thal and give  treatment to maintain our health.Maybe I wouldn't be so worried if I knew exactly whats going on with me.up to now, no one has been able to tell me anything other than I have sickle cells trait and thal minor that does not cause problem.Its like an insult to my intelligent.
I know if I was in another part of the world, maybe I would get the consideration where my health is concern.I would like to be taken seriously by the medical professionals.not passed around like a ball.
[b]Here in Australia they say that are  doing so, but is not true .People like me just get put on anti psychotic drugs because they don't know what to do with..regardless wether I have display psychotic behaviour which or not and I have not I'm a level headed person but I do get depressed at times [/b] . I know better, if and when I die I want to be fully aware of my surrounding ,so that I can look at everyone in thier eyes.
If we all just accept and keep quiet there wouldn't be any change.
I  hope there is an improvement in my life time because the situation is appauling right now.
I have to stop because I get so fustrating talking about my history with the medical professionals.
Kathy

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Offline sue

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #2 on: November 19, 2006, 04:34:45 PM »
Kathy

Im not sure if your following me or if I am following you, but so much of what you write sounds like me speaking!!

Every time I have had probs with my thal, I have come up against doctors who believe that my problems can have anything to do with my blood as minor has no side effects!! Remember I live at the other end of the world to you!!

Even the local  hemotologist has refused to see me, because he does not think my problems are related to my blood. My GP recently tried to infer that my symptoms may be caused by stress................. he wont suggest it again!!

Finding this site has been a bit like coming home, because finally I have found other people saying they have the same problems as me!!

So much of what Andy has written above makes sense to me, Im thinking of taking a print out of it with me to the GP's next time I go. Why do they expect us all to be the same?

Can anyone tell me, is there a page on this site that lists sympathetic Gp's and specialists doctors in thalassemia minor?



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Kathy11

Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #3 on: November 19, 2006, 10:10:58 PM »
Hi Sue.
In reading   your posting, I already sense your relief and your empowerment.
And you are helping me to further undestand my issues by sharing your stories.Yes we are at both end of the world and we didn't colaborate our stories ,but the similarities are remarkable.
There are many more women out there whom suffer in silence ,as  we are considered to be in a better situation with access to a computor and we need to continue with telling our stories.and hope for change.
 This is why, it is so important that we do speaks out without shame because we need to change the ongoing belief that" minors does not cause any Problem"and we  want the doctors to be more accountable for the middle age,Pre/or post menaupause because this doesn't mean it is the end of a woman lives.
I would encourage everyone to come out with their experience and lets works toward  better care for thal in general.
Actually my heamatologist was too busy impressing his student rather than paying attention to my needs and my medical history I got upset and stormed out of his surgery.
Now I'm trying to stay Alive by taking care of myself the best way I know how.
Sue I'm happy you are getting some kind of help from our excellent forum.
Good luck.
Much Love kathy.




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Offline Zadkhi

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #4 on: November 25, 2006, 10:06:21 AM »
A big reason I have such trouble treating my depression is that there are simply too many avenues from which to attempt to treat it from.

When talking about variations in symptoms of thalassemia patients, from minor to major, we also need to consider other possible factors.

We might be feeling super tired this week, but could there be other things going on that's affecting our energy levels besides thal?

The reason my depression is so freaking difficult to treat is because I have a co-morbid health condition, which is my HgH Disease.  I also have asthma and tend to get sick easily, which is a byproduct of my anemia.

Someone who has thal and has let's say diabetes, or depression, or high blood pressure, a really high-pressure job or family life or whatever else, might experience exacerbation - worsening/intensification - of symptoms or may even provoke symptoms when 'normally' there wouldn't be any.

My mother has the trait/minor form of alpha thalassemia and where people might think she shouldn't be showing any symptoms, she gets tired more easily, gets REALLY tired when she's on her period, and is sometimes a bit pale.  She also has high blood pressure and worries A LOT and has had depression before.

For myself, I can definitely say that having both HgH Disease and bipolar disorder sure makes it confusing to tell what is causing/provoking what and add my penchant for illnesses into the mix and it's really almost impossible to tell which came first - the bad mood that provoked my illness or the lower Hg levels from an impending illness provoking my mood and then exacerbating the illness.

So yeah.

I really think a lot has to do with co-morbidity (and yes, it's a morbid word, but it means that there's a coexistence of other health conditions) and and also lifestyles and how people take care of themselves.

In my case, I have a good health owing to a decently healthy lifestyle from childhood to adulthood, so discrepancies in my Hg levels and symptoms more than likely come from coexisting health conditions and the "push me push you" nature of comorbid illnesses.


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Offline jzd24

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #5 on: November 26, 2006, 07:02:50 AM »
     I know what you are talking about. Things are not clear cut, and get confusing. I don't know if some of my problems are from my thal intermedia, or from my fibromyalgia. I tend to think that many minors are being misdiagnosed, and may really be intermedias. This is just a feeling I have which is not based on research.
     My father supposedly had the minor beta form, and he died of a massive heart attack at age 54. He never had genetic testing or anything, so we don't know exactly what was going on with him. Maybe he had other genetic complications that were never dealt with. Maybe he was really an intermedia. My brother has the minor form and he feels bad a lot of the time.
     I think it should be standard procedure for doctors to do beta and alpha gene testing on all those suspected of having minor or intermedia. I had my beta genes tested, but not my alpha. Now I have to go back again to get the alpha test done. I don't understand why they didn't do it at the same time. I suppose it boils down to money, as many things do.
     Anyway, I think this is a great thread to start. Come on minors, tell us what it's like. Also important would be to know how many of you have had genetic testing, and was it for beta or alpha, or both? Take care everyone, Jean 

Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #6 on: November 28, 2006, 11:35:31 PM »
my 3 yr old boy is thal minor , they only picked it up because  his iron was low , he has had some synptoms , hes pale and he also sleeps alot , its all new to me  so i dont know wether to accept iron for him or will it cause more harm than good , i also dont know if its dangerous  because ive not really been told anything apart from when he gets older and have his partner/ wife screened  so there child doesent become a major
      plz help im confused about it all   ty  tc xxxxxx

Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #7 on: November 29, 2006, 12:03:55 AM »
i went to the doctors  because my 3 yr old boy was sleeping all the time and he looks really pale , not eating much  but then again he would have his good days and bad days at eating ,  so the doctor gave him a blood test and picked up that his iron was low  and questioned  thal minor   but then she aslo offered me iron for him  , but then she said he may not need it because  it could be because of thal minor  and he doesent need treatment , im really confused about all this  could u help me plz because i dont really know how serious this is and does it get worse as he will get older , but to tell you the truth im dont know wether or not to accept iron or not

   thank-you for your time  olivia   < uk >

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Offline Andy Battaglia

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #8 on: November 29, 2006, 01:09:39 AM »
Hi Olvia and welcome to our group,

Has your son's hemoglobin level been checked? The level can tell you if he is minor or intermedia.
Your son requires further testing to determine if in fact he is a thal minor or possibly thal intermedia. It is also possible that he has some combination of genes like one beta thal gene and the HbE hemoglobin gene. He may be a minor and other factors may be aggravating his condition. Iron deficiency anemia can co-exist along with thal minor, but it needs to be confirmed before trying iron supplements, as iron can be dangerous in the long term, as it builds in the body and can reach levels that can cause damage to the organs.

Doctors will often give iron for a short time (one month or so) and then test again. If the red blood cell count hasn't risen, then thal minor is suspected and the iron is discontinued. A more definitive test would be a serum ferritin test, which can will give a much better reading of what your son's iron levels are. I would also recommend DNA testing of both parents and the boy, specifically looking for not only thal beta genes but also alpha, HbE and any other gene mutations that can cause problems in combination with beta thal.

Please make sure your son is taking folic acid supplements daily. The doctor may have already suggested that, as all doctors familiar with thalassemia would. Also, please read through the posts in our section on thalassemia minor and our section on nutrition at

http://www.thalassemiapatientsandfriends.com/index.php?topic=118.0

If your son is a minor, he won't require any treatment but he will need to follow a healthy diet and get some regular moderate exercise. As I said, there may be other factors at work, such as iron deficiency or folic acid or vitamin B12 deficiency. The only way to correct the problem is to find out what he is dealing with. Further testing is needed.

We have many minors in our group and I am sure you will find some answers here, so please ask all the questions you have.
Andy

All we are saying is give thals a chance.

Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #9 on: November 29, 2006, 11:41:16 PM »
thanks so much for your help it helped me  alot  and i will let u all know what the out come is

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Offline C3nZ0

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #10 on: November 30, 2006, 11:03:15 AM »
Hi Andy,
When I was 14y I had my first arrhythmia (some tipes), I have made some test (also holter),  but all the test is negative (but in this test I don't had any aritmic problem  :dunno ; found only a prolapse of "mitrale" valve)
Now I had some pain in my legs, e other problems, but my doctor has said to me is nothing.

Now, that I know I'm have iron problem, I ask myself which of these problems are caused from that (iron and thal)... :hmm

Tomorrow (is 2 week  :mad that i'm staying at home with little fever) I will speak with my doctor (not thal doctor) and I will make the same question he, but I know that he already doesn't know the answers  :gaah.... I hope he calls to my "thal doctor" and they'll decide to re-make some test (first my heart)

You spoke about how to feel a minor o liker.... It's true: I feel like "not meat" or "not fish", are not healthy, but I don't belong to the Major  :hmm

Anothet question that I have is if my hemoglobine will come down to levels that need of transf, but I down find this...

I hope that you can understand me...sorry :banghead
« Last Edit: November 30, 2006, 01:08:42 PM by C3nZ0 »

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Offline Andy Battaglia

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #11 on: November 30, 2006, 04:12:03 PM »
Hi Vincenzo,

Even though your hemoglobin is on the low side, it is not close to the range where you would need transfusions. You may never need transfusions as your body seems very capable of creating new red blood cells that can carry sufficient oxygen throughout your body. Your problem seems to be that your liver and spleen are destroying these red cells prematurely. The excess production of red blood cells stimulates your gut to absorb excess iron, leading to iron overload. The red cells function adequately to keep an Hb of 12, but they don't live as long as normal. As long as your red cells contain enough hemoglobin, you will not need to transfuse.

The pain in your legs is most likely a result of the high activity in your bone marrow, which is overproducing red blood cells to replace those that are constantly being destroyed. This is common in thalassemia patients or in anyone who has low hemoglobin or is producing large quantities  of red cells.

I do agree that seeing a thal specialist would be of some help.
Andy

All we are saying is give thals a chance.

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Offline Manal

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #12 on: November 30, 2006, 11:59:05 PM »
Dear Andy

The red cells function adequately to keep an Hb of 12, but they don't live as long as normal.

I really can not get this because the above statment contradicts with the nature of thal. How a thal person can have red cells that functions adequately to keep good HB. Supposedly in thal you don't have ''quality'' blood nor normal life span. Am i making sense??

Manal

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Offline Andy Battaglia

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #13 on: December 01, 2006, 12:13:27 AM »
Hi Manal,

It is due to Vincenzo's combination of alpha and beta thal that causes this seeming paradox. His red blood cells are fairly functional. Hence his close to normal HB. It is low but manageable. However, the gene mutations give him red blood cells that his liver and spleen recognize as not "normal", due to either their shape, size or coating, and this is what leads to the hemolysis. Even thought the RBCs function well enough to keep his Hb at just a little below normal, the organs still remove the RBCs. This creates the extra production of RBCs in the bone marrow, which creates a higher demand for iron, leading to his gut absorbing iron at a 50% rate, which is 10 times normal.

So, even though his blood functions close to normal, his organs cause the hemolysis by destroying his RBCs prematurely, leading to the chain of events described above. Keep in mind that as far as beta, he is a minor, but it is the combination with the alpha genes that create the odd RBCs.
Andy

All we are saying is give thals a chance.

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Offline Danny.H

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Re: Hemoglobin Variants: Are You Really A Minor?
« Reply #14 on: September 10, 2014, 07:56:53 PM »
I do not know for sure if I have one more thing but I was talking with a new doctor and he is saying that maybe I also have a genetical problem of folate absorption.
Daniela

 

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