New Thal. Minor Diagnosis

Hi there Debbie!!

First of all, the best thing in my opinion to do is...don't freak out.  Like some members have said, this is not a freak out diagnosis...but a diagnosis of patient waiting and watching and waiting some more.

Like Andy said, during my pregnancies, I had alarmingly low iron, b12, and hemoglobin/hematocrit levels.  They call this a severe hemolytic anemia episode, which usually happens to intermedias/majors, but can happen in minors under stress (severe illness, pregnancy, etc.) With my most recent pregnancy, my episode was so bad I was hospitalized for 10 days and recieved three transfusions.  My spleen enlarged to 18 cm, which will be removed this coming monday.  My son is now 11 weeks.

I am categorized as minor only because I have one defective gene from my mother.  My father has another Hb gene mutation, which might explain my severe form of symptoms, however I do know of several minors with symptoms like mine.  I have recently found out that my daughter Karol has been diagnosed as minima, only because she has yet to show symptoms.  I hope it stays that way!

I have been told by my hematologist to take a special vitamin called Repliva that they're marketing to thals with low iron levels.  It has CHELATED iron, a form that will not build up in an injurous way in your organ and bone tissues, and a LOT of B12.  I FEEL WONDERFUL!  I have to take tea with any meals with red meat, because of the very high levels of iron.  Your daughter could also drink milk with her red meat...Your body will readily take the iron from the more easily digestible milk, and discard the red meat iron, which is really hard to break down.  You might notice that your daughter has trouble breaking down red meats and heavy greens like rappini, broccoli, and spinach.  My body just doesn't bother to digest these...and it makes for painful indigestion. Too bad I love them 

Your daughter may experience a lower immune system - I was ALWAYS sick as a child.  I've always been  very fatigued...And I have severe allergy to latex, which my doctor says is prevalent in thals, along with asthma.  I don't know why the latex allergy comes into play, but the asthma is explained by our low oxygenization of our bodies from our fault red blood cells.

Ok, I could go on forever...And you're probably asleep by now...But if you have any more questions about my experience, ask in reply or PM me. 

Much Love -
Courtenay

hi
asthma is common for thal patients?  really?  i've never heard that!  i have had allergies my whole life and my daughters do as well.  my oldest who is 4 has recently started showing signs of repidly progressing asthma........hmmm........maybe thal is not the main cause, but something to think about maybe?   
thanks for a little tidbit of info

Desertthal-

I find the Vicks Vaporizer/Humidifier from Walmart ($20) does WONDERS for my lung function.  Try it!

Thanks for the Info Andy, To be honest I did not knew details about Thal Minor and always assumed it was a "minima" condition. I was not reading the posts on Thal Minor section and just tried to pitch in your absence and Danielle, but I guess half knoweldge is dangerous than anything else.

Well, I guess it is not as simple as it looks like.

Regards

Hi All,
     I think sometimes intermedias are mistakenly diagnosed as minor, especially if they are heterozygous for thal. If people test out heteozygous, doctors assume that can only mean minor, but there are other factors which can be involved to make the anemia more severe. Some minors do very well, while others have many more problems.
      I was diagnosed late in life as having thal minor because I was heterozygous for thal, but my anemia was more severe than the normal thal minor category. My diagnosis was eventually changed to intermediate, and I started transfusions when I was 51. It turns out that my alpha genes may be involved in making my beta thal more severe. I will  get DNA testing for this in May, to find out if this is correct.
     I think there are other factors which can make a thal minor more severe, such as with Kathy. The sickle cell factor may be affecting her thal status. Who knows what other conditions make anemia worse; they are just learning about these things as more research is done.
     Hopefully your daughter just carries the trait, with no other complications. At least you know to keep on eye on her health, and to be aware if anything changes. DNA testing for beta and alpha gene involvement is a good idea, just to know what you are dealing with.

Once again I hit the wrong key and sent my post before I was finished.
     Kathy, I know you get so frustrated with all your medical problems - and rightly so, you have had too much to deal with and haven't had good medical care from doctors or much support in general. I feel so bad for you.
     Sajid, you mean well, and are such a sweetie. We learn from each other, and we are here to support each other. I know that was your genuine intent.
     We are all still learning about thal! I have learned incredible amounts from this site, and talking to all of you. That has been such a positive thing for me. Debbie, I hope reading the posts helps you become more informed, and gives you the real-life testimonial info. on living with thal. Good to have you with us. Take care everyone, Jean   

Now I am getting anxiety attacks, and my head is spinning. My son is Thal Minor and to my ignorance we never looked at him and thought to be Minima. I just digged into my papers and found his diagnosis as follows:

These tests were done two and a hafl years ago
Hb 94g/l, mcv58.9, HbA2=5.1%, HbF=3.0%, serrum ferritin=12.9ug/l

Genomic DNA was isolated from the blood sample and the B-globin gene was analysed by PCR using the amplification refractory mutation system (ARMS) and direct nucleotide sequencing.

The results are consistent with patient being heterozygous for the IVS-I-(-1) G>C beta zero-thalassemia mutation (HBB g.92G>C)

The alpha gene cluster was analyzed by Southern hybridization using probes specific for the gamma and alpha globin genes. The results are consistent with patient having the normal alpha globin gene arrangement.

An early response is appreciated.

Hey, I didn't mean to alarm anyone! I'm not knowledgeable enough to give you any feedback except that it sounds like the alpha genes are not involved. I am just learning about all the gene stuff, so I don't know what it all means yet. I'm sure someone will know something about the information you posted. Good luck, Jean

Desertthal,

In addition to the thal, a possible asthma cause could be your location. There are some illnesses that are found in the southwest desert that affect the lungs long wth certain rotoviruses. It may be worth checking into to make sure none of these are a factor.

Wow!

First there was just Thal. Major and Minor. Then they later found that Alpha and Beta are also a factor of different outcome. Then they introduced Intermedia between the two.

I always believed that a Thal. minor having more troubles should be considered Intermedia as the majority of Thal. minors can go on without showing any symptoms (like my parents) or keep themselves perfect by regular checkups etc.

Now we have new classifications!!! Minima and Minor! They are closing the gap between every type.

I guess that's the reason that caused all the confusion as I really though that Kathy should have herself classified as Intermedia and not mislead Mrs. Debbie to think her kids are Intermedia instead of minors.

So, it's my bad. Sorry for the misunderstanding. 

Take care, Peace!

     Sajid, you mean well, and are such a sweetie. We learn from each other, and we are here to support each other. I know that was your genuine intent.

Thanks for the kind comments, Jean!

I had really misunderstood the thing and thought that Minors were not complicated like Intermedia.

Take care, Peace!

Hi there Kathy,
reading about your experiences made me feel bad.  but what really got my interest is when andy said you also have a sickle trait.  my son was diagnosed with beta thal sickle cell disease.  he has thal minor from me and sickle trait from his dad.  he does not present as a thal patient.  when these two abnormal haemoglobins combine, the disease presents itself as sickle cell, hence the pain and many problems you have experienced.  i sympathise with you because to watch my 4 year old endure the pain, the tiredness, the inability to put on weight was heart wrenching. 

so kathy is it worth getting another electrphoresis and asking them to give you the percentage of sickle cells you have as i know in my sons case it was the sickle cell percentage that was making his life an absolute misery.

keep me posted
vicky

We have even had a one gene thal in our group who transuses regularly. If you have beta thal zero, you can have a very low Hb level and all the problems of an intermedia.

Andy, your quote from above, does it have anything to do with the result below:

The results are consistent with patient being heterozygous for the IVS-I-(-1) G>C beta zero-thalassemia mutation (HBB g.92G>C)

Hi Vicky,
Nice to meet you and thank-you for your concern,I requested a DNA test and was categoricaly refused and was told it was too expensive,And since I was over fifty yrs old  they cannt afford to do such test it useless it wont help me.
My gp told me that not much is known about SickleCell and in a sense she couldnot do much for me other than treat the complications e;g   the cardiovacular problem and the metabolic problem.
I have already suffer from an  ischemic heart failure even then they didnt make the association.
I'm on all kind of medication including aspirin daily.
My health is on the declined and I do have lots of pain at times more than other.
for the past seven years ive been visiting doctors often always with more of less the same complaint but no one seems to know or bother to find out what is wrong with me,
I am tired of hearing them telling me stories  .It is sad but I'm ready to go where i will be painfree and peacefull.no regrets ive had a reasonably good life.
Again thank-you Vicky
Regards Kathy

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