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[emersive]

So, heres the deal my friend and I are working on a genetic disease project, and we are going to teach a group people about thalassemia.  We want to include some history about thalassemia...  We have looked all over the web for some specific facts and we have been unable to locate them.  We decided that you all are probably the best experts that we can ask to be informed about the diesease and it's history.  So if you all would be so kind as to help us with a few questions we have that would be great. 

1)We need to know when and how thalassemia was discovered as well as who discovered the disease.
2)When is the diagnosis usually made that someone is affected by the genetic disease?
3)What is the hardest part of having thalassemia?
4)What things would you like the public to understand better about your disease?
5)Is there anything else that you think would be important for us to know or understand about thalassemia?

[Andy]

1) Thalassemia was first described by Dr Thomas Cooley in 1925, when he observed the disorder in patients of mediteranean ancestry, and called Cooley's anemia until doctors at the University of Rochester coined the name thalassemia, which means "sea in the blood" which is a reference to the fact that thalassemia is prevalent in the Mediteranean Sea area. Thalassemia was historically found in warmer areas of the world and became prevalent in those areas because they coincide with the areas where malaria is also prevalent, and thalassemia provides some protection against malaria, resulting in more thal carriers surviving malaria epidemics than non-thals, thereby inflating the percentage of those populations carrying the thal genes. In Thailand, it is estimated that at least 30% of the population carries some variation of a thalassemia gene.

2) There are three main types of thalassemia. Minor, intermedia and major. Beta thalassemia is a genetic blood disorder that is caused by defective hemoglobin genes. There are two genes involved, one from each parent. If one gene is defective, the condition in known as thal minor. If both are defective, it results in intermedia or the more severe major, depending on the severity of the gene mutation or deletion. Thalassemia can be detected by blood tests, but major is usually noticed within the first year, as the child will not develop at a normal rate and may become sickly. In most states in the US, thal will be discovered with routine blood tests after birth. Intermedia is usually noticed during the first few years of life, and minor will be noticed in any complete blood count by the small mis-shapen red blood cells that are found in all three types of thal.

I can't answer #3 and can only give some comments on #'s 4 & 5. I'll leave the rest to the thals here to answer.

I would like to comment that what we would like to see is a much better educated public when it comes to thal. Thalassemia major was once a universally fatal disorder, with patients surviving no later than their early 20's, but with modern treatments, thalassemia has been reclassified as a chronic (not fatal) disorder, and thals can live long fruitful lives. People need to be educated to this fact and change their thinking in terms of survival of thals and provide them equal opportunity in life.

The need for blood donations is always high because of thal, and the need for money put into research is great. It is very likely that better treatment and even cures are within reach if adequate funding is given to thal research. The public also needs to be made more aware about thalassemia worldwide, as it is a huge problem in many countries, such as India, Pakistan and Thailand, and is a growing problem elsewhere, inculding the US, as more Asians emigrate. 

[Nur]

The hardest part of having Thalassaemia.... 

Well, for me, it is being unable to plan for future events of my life like holidays, weddings etc..for more than a month's time. This is because of the monthly transfusions that i have to do. The blood is hard to get and it usually depends on the donor. if they came on time, then i can plan ahead but usually they don't so any future plan has to be put on hold.

I wish the public to be more educated about Thalassaemia and be more considerate and understanding because it is hard to get a job.

There should be more effords towards reseach for a cure because that's what we want above all. The research should include adult patients too because what is mostly done now can have better results if preformed in a child. Adult need the chance for a cure too. 

[§ãJ¡Ð ساجد]

The hardest part of Thal in developing countries like Pakistan is...

EVERY THING!!!

From birth to death this disease affects all aspects of life. Whether social or personal. I have a lot to vent about, but below is the summary of the major phases of life.

Parents have hard time maintaining the treatment such as availability of blood, Desferal and the finances involved for it such as cost of Desferal, needles, BT sets and sometimes even the cost of blood. We have to note here that a lot of people here are poor and have a real hard time financing the treatment in their limited income. The government hospitals may provide limited relief in cost of treatment (excluding Desferal) but the availability of blood remains the main issue.

Next the children have a hard time complying with the treatment. The first thing that comes to mind is the needle prick. Ports are not used here and thus everyone has to suffer the pain every time they go for a TX. The use of Desferal is limited too (If one can afford it) while the launch of Exjade is planned nowhere in the near future due to it's rumored high cost. There is no such thing as medical insurance here. I was amazed (and somewhat envious) about such a thing existed when I first read about it on this site!

Next comes the social part. If a lucky Thal. kid survives his childhood, then it's not over yet, there is a lot in store for him. The school routine gets disturbed due to TX. Desferal hinders their performance if they get a painful bump due to last night's infusion. Teachers need to be cautioned about the kid's health lest they give the regular harsh treatment to poor performing students (Oh yeah, that still happens in some schools here)

Next comes the college life. Almost similar to the school life but the kid is now a teen and can bear the needles and painful bumps etc. But since now he is more socially active; this causes it's own problems. You get that weird look from everyone as if they are asking "Is something wrong with you?" some people actually ask it and it is really hard to give them an explanation in a few sentences. Furthermore if you have a physique like mine then there is an added comment "Hey Kid! What are you doing in this College/University? Go to school! HA HA HA" Which makes me and want to give them a three quarters face lock stunner! 

Finally in professional life you get discriminated all the time and have a hard time finding a job. Furthermore the personal life is not pretty either! You get dumped like trash by the other sex and have a real hard time finding someone who will marry you without being concerned about Thal.

In short; with Thal. in Pakistan:


"LIFE $UCK$!!!"

Sorry about the offensive comment but I really needed to vent out as I recently have suffered one of the "Experiences" mentioned above.

Take care, Peace!

[pplrjsh]

So, heres the deal my friend and I are working on a genetic disease project, and we are going to teach a group people about thalassemia.  We want to include some history about thalassemia...  We have looked all over the web for some specific facts and we have been unable to locate them.  We decided that you all are probably the best experts that we can ask to be informed about the diesease and it's history.  So if you all would be so kind as to help us with a few questions we have that would be great. 

1)We need to know when and how thalassemia was discovered as well as who discovered the disease.
2)When is the diagnosis usually made that someone is affected by the genetic disease?
3)What is the hardest part of having thalassemia?
4)What things would you like the public to understand better about your disease?
5)Is there anything else that you think would be important for us to know or understand about thalassemia?

 I am to add about 1) is Thalassemia is a greek word,thal means Land, ssemia means Sea.
2) At around 6 months of age at this age fetal Hb can be properly measured but symptoms are from birth as the child will be restless will not digest even mother's milk,the story of affected starts from 6 months after clinical examination on screening & DNA analyzation.
3) All the parts are affected because there is low Hemoglobin. Oxygen / RBC'S not meeting the requirement.
4) Donate Blood for our survival we need every 3rd week blood transfusion to maintain a mean Hb of 9-10%,
    as this is a genetic blood disorder,the other thing public to understand is please do not make fun of us on our short in length & delayed puberity because ther are not enough blood donors to meet our requirement to maintain a mean Hb of 9-10%. we  too have senses & can perform 100% if given the chance only excuse will be every 3rd week 4to 6 hours for a transfusion.
5) As the side effect of blood transfusion the iron gets deposited in the body as the absorbation capacity is nominal so there is a iron overload which has to be removed by costly drugs oral / injectables & has toxicity of these medicines,body loses certain minerals that needs to be attended,it is rosy but with thorns.
with regards
pplrjsh     

[emersive]

Thanks everyone for your comments, if anyone else wants to add anything please keep going, this has been rather enlightening for me.  I am sure that the class my friend and I will be teaching will also learn quite a bit from what you have all posted.  I will encourage those present to donate blood more frequently.  I think most people take forgranted that they don't need blood transfusions, which makes them forget of the great need that others need for it.

What are the consequences of not recieving a timely transfusion? 
How costly are treatments for thalassemia? (If you don't mind me asking...)
If I understand what has been stated, thalassemia also stunts growth? 
Usually those with thalassemia appear to be younger then they really are?
As far as finding a job goes its hard because of employeers or what specifically makes it a challange?

[emersive]

Okay from what I have read the majority of people use a pump to do iron chelator treatments, what is the pump like, is it portable?  Heavy?  Can someone point me to somewhere where I can see a picture of one of these pumps?  Is exjade, or the pump treatments more expensive?

[§ãJ¡Ð ساجد]

Hi,

1)The consequences of anemia induced by not receiving TransX are a lot. The oxygen supply to organs is reduced resulting in their improper function. Most important is the heart which has to work hard to compensate the lack of Oxygen supply to the organs. This causes several heart diseases such as weakening of it's muscles and abnormal growth of tissue due to extra exertion. Furthermore the bone marrow also has to work extra time to make more blood which goes all in vain as the genetic code on it is the real fault and the extra created blood is useless. This results in expansion of bone marrow in bones and results in deformation of brittle bones in childhood such as the cheek bones and forehead etc. which makes a child look like something like "The Chipmunks" (A particular cartoon)

2) The cost is variable. Some charitable organizations provide Transfusions for free while some may just provide the blood and service of TransX (Staff nurse) while you pay for the other things like cannula(needle) and TransX set etc. In some cases you have to pay for everything even the blood and service charges. etc.

3) If the HB is not maintained at the normal level, then the lack in oxygen definitely retards organ functionality and thus effecting growth.

4) Well, in my case, yes, but there are lots of Thals. who look perfectly normal. Maybe it also has to do something with genetics. My family has a couple of people who look younger than their age but my Thal. has seemed to cause more delay than the rest of the young looking chaps.

5)In most cases they just discriminate Thals because of their treatment dependency and fear of high cost if the employer provide medical benefits.

6) I have an old fashioned pump which is quite big and you have to carry it in an underarm holster like the police officer's gun. Nowadays, more smaller and lighter ones are available which can easily hide in your pocket.

(The bigger one)


(The smaller one)


Take care, Peace!

[namitha]

Hi,

LIFE ITSELF IS A PROBLEM WITH THALASSEMIA!

I have thal inter and have a relatively easier time. I live in Bangalore where transfusion services and medical care is good, but that doesnt lessen the nuisance of carrying thal. It's like having a snake in your hip pocket all the time. You never know when the DAMN THING will take it into its DAMN HEAD to bite. Sorry about the language. As brother Sajid say's we all need a vent and this is it. My blood boils . The good thing in Bangalore is there is some awareness and things are not bad at all. One can live with thal and be a professional too.

Regards,
Namitha

[emersive]

I am working on making a thalassemia website, for my presentation, so far things are going pretty well..  I still have a ways to go.  The website will be entirely information. for the presentation... later I will probably ask you all to go check it out, to make sure what is written is acurate.  I think this website, and you all have been the best source that I have had in learning about the diease.  You guys are great!