Thal Thoughts

(I have a previous post within the thread labeled Nutritional Advice???)

I should clarify that my specialty is not Hematology.  I completed medical school two years ago and I am currently training in the specialty of Radiology.  However, since my wife and son both have thal minor, I have done much reading on the subject within the medical literature. 

Personally, one of the most eye opening articles was published in the New England Journal back in 1997 (N Engl J Med 336:1298, May 1, 1997)  which was a epidemiological survey of thal minor in Hong Kong.  They basically tested a few thousand asymptomatic kids in high school and found that 1 in 15 to 1 in 20 have thal minor.  Take home point is that thal minor is EXTREMELY common in certain parts of the world...especially regions of South East Asia.  The thal gene is common for a reason...it provides a very real EVOLUTIONARY ADVANTAGE compared to non-thals.  But with this advantage comes the tradeoffs of symptoms that are frequently discussed on this site.  Everything in life comes with a tradeoff...nothing is free, especially when it comes to survival!


I also found, through my readings, that Deepak Chopra's children and wife are beta thal minor.  He gives an interesting perspective on it in his writings....

Over 30% of the population of Thailand carries a thal gene. There are over 100 known thal mutations in Thailand alone. You are very right. Thal is a far bigger problem around the world than has ever been realized and although being a carrier has provided a definite advantage in terms of surviving malaria, thal major is the unfortunate consequence of this genetic protection. Since the known amount of thal majors in the US has increased from 1000 to 1800 in just a few years, we can see that we are on the verge of a very serious problem in this world. As the poor countries have developed, we have seen demand for medical care for thals greatly increase, where previously thal majors were left to die in environments where there was no hope at all. As these countries develop, thal is becoming a huge problem. It is no longer acceptable to let thals die and I believe we are on the verge of major changes in the approach to thal. No longer will we be told that the thal problem is too small to attract the attention and funding needed to find treatments and a cure. As the Asian countries develop, health care will be looked on as a right and not a luxury. Care for thals will becomes the reality. In this group we have primarily seen the thals that have some advantages and have been able to receive treatment but truthfully, this is the minority in so many countries. In India, it is estimated that at least 10,000 thal majors are born every year and 80-90% of them never receive any treatment. As these countries develop, this will be addressed. There is no choice. No developed nation will accept the death rate that India, Thailand, Pakistan etc., accept now. 

We are at the forefront of this battle with our work to educate and create awareness about thal. All thal carriers need to understand that before they mate with another, that other person should be tested for thal. Only by awareness and testing can we ever hope to control this monumental problem. All known possible carriers should be tested. In the US, 42 out of 50 states require testing for hemoglobin disorders at birth. This needs to be the norm throughout the world if we are to have any hope of controlling thal.

Malaria has been the reason thal carriers are so prevalent in certain areas of the world and now that malaria is being dealt with we must also look to deal with the blood disorders that have been the result of the malaria parasite not being able to thrive in the bodies of those carrying these disorders. This is not a problem that can or will be ignored. With the number of thal carriers in the world being in the hundreds of millions (40 million in India alone) our world will not have a choice. Thal will bankrupt us financially if solutions are not found. Prevention, treatment and yes, a cure are not ifs, but whens.

We will be most effective when every member realizes the scope of thal and does everything possible to educate and create awareness about thal. Do not underestimate the reach of our "little" group. And don't leave any stone unturned. We are in a position to create a much wider awareness of thalassemia and related blood disorders. Let's take advantage of every door that opens to spread the word about thal. In your post you mention Deepak Chopra. I doubt any of you know that Deepak Chopra is heavily involved in a comic book company by the name of Virgin Comics. Deepak is bringing Indian mythology and the tales of their gods and goddesses to a world that has known little if anything about this culture, through the use of the comic book medium. What is also very interesting in our context is that Virgin Comics is one of the companies in the empire of Sir Richard Branson, billionaire businessman and adventurer. Branson is unusual. If you have ever heard him interviewed, you quickly realize that he is a man who operates by his own rules and who understands that in this age of intelligence and communication, that we need to find new solutions to the problems of the world and that this should be accomplished by people working things out peacefully, with full respect and regard for each other. I mention this because thal research and treatment requires money and we need to find sources for the funding for this work. With this in mind, why don't we try to reach people like Richard Branson and appeal for help with funding. The amount that Thalgen is looking for to run trials for a gene therapy cure for thalassemia is relatively small in comparison to the amounts Branson typically makes in business ventures. We need to enlist the help of this very type of person to help us find the funding for treatment and a cure. We have quite a few members in India. Do we have anyone with connections to Deepak Chopra? Can we make an appeal to Branson through Chopra? Leave no stone unturned and we will succeed.

Link to the book by Dr. Chopra in which he discusses thalassemia in his family.  Page 98 of "Creating Health"

http://books.google.com/books?id=PNXWmSfdIlMC&pg=PA98&lpg=PA98&dq=deepak+chopra+thalassemia&source=web&ots=x1I196O0ut&sig=ZAP3owQ16v9pRQCSdQS2nUcqZio#PPA99,M1

As a member of the medical community, I can tell you that thalassemia is an underrecognized disease.  My wife was misdiagnosed as having iron deficiency and dangerously took iron suppliments for a few months before the correct diagnosis of thalassemia was made.  In my own training, thalassemia was discussed for a total of one hour during my four years of medical school. 

As more asian people immigrate to the US, the frequency of thal conditions will con't to increase.  I tell all of my collegues, especially those from thal dense areas, about how my son has thal minor, just to bump up their awareness of it.  If just one couple gets tested before they conceive because of me, I will be happy.  However, the more people I can influence the better. 

And yes, the most important thing a thal minor can do in life is to have their partner tested before they conceive.  I highly recommend seeing a genetic counselor as primary care physicians in America are not well educated on the variety of genetic alterations that can cause thalassemia (as Andy discussed).  Genetic testing is required as certain types of thal minor (one gene deletion alpha thal) can look perfectly normal on blood tests alone.  However, if a one gene deletion alpha thal and a two gene deletion alpha thal conceive, there is a 1 and 4 chance that the child will have three alpha genes deleted, which is a VERY symptomatic condition.  Similar subtelties go along with the other thal conditions.

Andy, let me know if there is anything I can do as a medical doctor to facilitate efforts to help fund research aimed at prevention and treatment of thal major.  Personally, I feel that the grunt of energy should be placed on prevention as the technology to genetically screen couples exists already.  Efforts should be made to make this technology cheap enough so that less modern countries can benefit. 

Genetic therapy is still a pipedream.  As far as I know, there are no successful long term genetic therapies for any condition.  By no means should we give up on research...but we still have many hurdles to overcome. 

An analogy can be made with cars...We have invested billions into hydrogen powered vehicles, but we already have a good and functional hybrid car that has nearly double the fuel efficiency of standard cars (The Prius).  It just has to made cheap enough so that people will buy it.

A common saying within medicine is, "The enemy of good is better."