AP Biology Student Looking for Insight

Hello, my name is David, I am a 16 year old student in North Carolina. I recently developed an interest in thalassemia when I found out about my family history of the condition. I was blessed with not receiving it, but my baby cousin was not so lucky. In my AP Biology class, we have learned about genetic disorders, and now we are doing a project on this. I saw this as the perfect opportunity to learn more about thalassemia, spread awareness, and help out. I want to know... What is an average day like? What do thal patients want to be able to do easier?

Hi faltdavid and welcome to the site

I think that being comfortable with chelators is best thing thals want to be easier in terms of administration, side effects and price too.

And we definitely hope for a cure one day
Feel free to discuss whatever you want

Manal

Thanks Manal!

I need to do some background research on chelation. I know it's removing excess iron in the blood, in this case, as a result of frequent transfusions, but I don't know much about how. I know that since it's iron, the chelator is deferoxamine, but how does the process work? And you said that it was uncomfortable, if you don't mind my asking, how is it?

Thanks,
faitdavid

Hi David,

on the forum,

For me it would be awesome if my daughter would not need transfusions,i know the most part of thalassemia major is receiving transfusions but i dream about one day when there would be something to keep her hb at levels that can help her grow without getting transfusions,if that makes any sense  .

Chelators can be uncomfortable in many aspects,like if you talk about desferal,who wants a needle in their tummy the whole night,and it also effects bone growth in growing children,and with Defriprone/Ferriprox/L1 there is always a fear of neutropenia and so many of our members have complained of joint pains while taking Defriprone.With Asunra,you have to keep an eye on kidney and liver functions or it can hurt em.So yeah for me eliminating the source of extra iron i.e transfusions would be good.

Good luck with your project

Zaini.

Hi david, I'm sure you will get more info from more experienced parents and patients on this site but I can tell you that we have a 20 month old boy whos daily life so far is pretty normal. He began transfusions at 3 months old when his body transitioned from producing fetal hemoglobln to adult hemoglobin. This happens to all children around 3 to 9 months of age if I'm not mistaken. The only difference is that these children are not able to produce the adult hemoglobin on their own. My son was monitored after the first transfusion to determine how long he would need between transfusions and after a few months it was something that was done every 3 to 4 weeks. He is a normal child full if mischief and although he doesn't enjoy the monthly visits he doesn't seen to be effected by his condition yet. It gets tougher when he gets sick because the intervals between weeks are cut shorter.

We have not started chelation however, doctors recommend that these patients start the process when his ferretin hits 1500. I believe they will start him on exjade. You can refer to the topics under this site under iron chelation corner. You will actually find a good amount of articles and info on the different types.

 

You are welcome faltdavid. Actually I don't use chelators till the moment so I will leave the detailed description for any of the members to explain it, but in brief deferral, is administered by putting a needle in the tummy for around twelve hours. This is so harsh on children especially that those twelve hours will definitely be during their sleep time so I guess it makes sleeping uncomfortable. Also being uncomfortable leads to uncompliance and therefore leads to iron overload with all it's side effects.

There is two other chelators, one is so expensive that you have to be insured to use it and the other is oral but it won't suit anyone
Manal

Thank you all,

Zaini- I think the only way it would be possible not to need transfusions would be if we could modify DNA in the RBC's so that they could produce the beta protein again. I know they have found the gene loci of the mutation, but I don't believe we are able to do that on a large scale yet so that all RBC's would have that gene... It's possible that some iron could be removed from blood before it is transfused, but it may reduce the efeectiveness. Oh yes... I wasn't sure where the pump went, I didn't know it was in the tummy, that would certainly be uncomfortable and make it a bit harder to sleep.
Thanks!

Cari- The post about your son was the first one I saw on this site, actually! It's good that he is having a pretty normal life so far. Yes, babies begin to produce adult hemoglobin normally at around 6 months, give or take a month or two. In thal majors, the beta protein is not manufactured correctly, and then a beta chain can't be formed as part of the normal adult hemoglobin. How much blood does he receive each transfusion?
And thank you for the reference!

Manal- I can see why noncompliance would be a problem, yes. To me, I think the benefits would outweigh the discomfort, but that comes from someone who hasn't experienced it.

David

Hi David,

Welcome to the site!

I *had* to reply to your message, when I saw it due to a funny coincidence - my daughter, who also has Biology in her high school and has to do a school project for the year, also selected Thalassaemia for her school project - mainly, I think, because she can get all her dope from me, sitting at home, while not having to do much research! Also, thanks to all the good reviews being received by Vampires lately, she probably thinks it is cool to have a Vampire Dad!

So, to your question - what is a normal day for a Thal?

In most cases, very much like yours I suspect, when I was your age - go to school/college, see if you can cut classes, hang out in the cafetaria, break as many rules as you can safely get away with, play video games, read some books, and do the least amount of studies that could potentially get you an A grade!  The difference were the days when one went to the transfusion centre, when the whole thal thing sits on your head  and sick days, when you generally get sicker with the common bugs/parasites than your friends would. 

The other overhang is the whole iron thing - transfusions are a double edged sword - they keep your HB high, saving your life for now, while injecting a lethal, slow poison into you in the form of iron, that WILL eventually kill you, if untreated. Therefore, you endure all the fuss about chelation. With Desferal, it is not really the needle in the stomach or the thigh that is the real problem, but all the bumps and painful lumps that you get post infusion - that used to be my bane. Until L1/Kelfer came along - I think that saved my life.

Cheers

Poirot

Thanks!

Oh! That's funny. Yes, I get the feeling that it's become very normal, and that's good.  I think it's as if the extra iron is like a second disorder or something. Oh, yes. Kelfer is another oral chelator, right?

David

Yes David,

Kelfer/Defriprone/ferriprox/L1,different names for the same drug,and it is the first ever oral chelator.

Okay, thank you Zaini!

Wow an average day huh, well its pretty average...with a twist. I do everything everyone else does. Only thing different about me is that every now and then I have to go and refuel ;) and I have to take desferal infusions every night. I'm 22, so I go to school, I go out, I have a life and a part of that is transfusions and chelations. My doctors where always hesitant about letting me play team sports, so they would never sign the physical forms in middle and high school, but it didn't make a difference to me, I still played with friends and stuff just as hard as any other kid.

Physically- ya when its time for a transfusions, I generally get frequent headaches, I'm more tired through out the day,  and when its been a REALLY long time (sometimes I push transfusions of b/c I want to go on vaca or I cant schedule it the week its supposed to be) i can get short of breath sometimes (really probably only been twice in my whole life). I have found that working out, doing cardio, lifting weights generally helps me maintain an energy level through the month and has actually caused my hemoglobin levels to be higher that month (its actually something that really interests me, I keep looking for studies associating exercise and hemoglobin levels but I haven't found anything yet).

Transfusions- I go every 3 weeks. Biggest problem I have with them is that on one hand they give me life (lol my brother calls me his little leech ;) ) and on the other they cause side effects that could potentially kill me (iron). I hope and pray every day that the gene therapy trials that are currently going on an thalassemia patients are successful and sometime soon I can get the therapy.

Chelation- I didnt start until about 8 years ago, which really is late for thalassemia patients. Generally you should be monitoring iron from infancy and maintaining a relatively normal level. My parents, however, couldn't handle administering the daily infusions so I didnt start until I turned 16 and could do it on my own. I started on desferal but I was at the age where I didnt really know the consequences of not taking my medication and rebelled. I wouldn't take it all the time. Eventually I moved to Exjade because it was an easier regimen but my compliance was even worse because I couldn't handle the side effects. Then I hit a point around 18 or 19 where I got pissed at the world and everything because of the thal. it was my why me? phase. I rebelled, went completely off the chelators. I didn't know much about thal and I had never bothered to learn about it so when someone asked me about it i just said its a blood disorder that require transfusions. Eventually I started getting random liver and heart pains. I started looking up more information about thal and iron overload and realized that I was slowly killing myself. I immediately started back up on the chelation, but the damage was done. My levels were through the roof! its taken me 2 years to bring my iron down to about 7000. Its going to be a major accomplishment when I finally have it complete under control. The desferal is a pain in the butt (soft tissue if you want to be more accurate) but its keeping my iron in check so I take it religiously now and can only hope for a better pill form to be developed that I dont react as much to.

So your big question, what do thal patients want to be able to do easier?
I dont know how to answer this, its pretty much a toss up between the chelator and the transfusions. A safer, more efficient chelator would be welcome, but a cure would be ideal.

Hope this helps, if you have specific questions dont hesitant to message me!

Archana

Thanks for the response Archana! That's interestig how they disnt want you to play sports before and now you're finding that exercise helps keep your hemoglobin up. That is late for chelation! Now I think they start when ferritin hits 2000, and it was probably much higher at that point. Wow, 7000 is way up there! Good luck!
I was talking to a representative from Pfizer today (his som goes to my school) and he said that they're working on a stronger oral chelator that could work independently of desferals, so that's great. I think it's in phase 2 or 3 testing, and then it has to get approved by the FDA, which puts it around 3-5 years from the market...

David Fait

David,

The oral chelator mentioned is probably FerroKin, which is moving along in trials. New developments in chelation are necessary because there are various problems associated with every chelator currently being used. Another chelator that showed great promise is S-DFO (starch desferal), a chelator that would be administered for about one hour per week by IV. Not having to use chelation daily is quite attractive to patients who have to deal with one side effect or another on a daily basis. This drug could also supplement another chelator in patients with a high iron load. It would guarantee that an almost constant chelation takes place, which is the ultimate goal of iron chelation. Unfortunately, this drug has been stalled by a lack of funding. In my opinion, this drug would greatly improve chelation compliance among those bothered by side effects of the current chelators. I would really like to see it revived with new funding.

Yes Andy, I believe that was it. Like exjade causing liver and kidney problems, right? I just looked up the S-DFO, and it seems really good, but that's a shame about funding. Couldn't we get some anemia foundations like CAF and the Sickle Cell Foundation among others to contribute, since many blood disorders require frequent transfusion, and as a result, people with these conditions have high iron, and need chelation. I mean, I'm sure there would be a gooddeal of interest, but maybe not the amount of money needed for a large undertaking. Developing a drug costs almost a billion dollars, 12 years, and almost 1000 failed other drugs...