More than 70,000 Americans suffer from sickle cell anemia, an inherited blood disorder that can be very painful and has no cure.
Fortunately doctors may be on the verge of discovering new treatments.
The hospital is a painfully common place for Juanita Gougis and Dave Auberry.
They have sickle cell anemia, and pain is just part of it.
In Dave's case it affected his growth. For Juanita it meant countless days away from school and social events.
Blood transfusions and surgery can reduce the risk of stroke and other complications, but there is no cure yet.
Dr. Yutaka Niihara may change that.
He made a surprising discovery when he was doing research on sickle cell.
"We did not want to believe it because it just seemed so simple," Dr. Niihara said.
The researchers found that when they applied glutamine, a common amino acid and nutritional supplement, to sickled cells in the lab it caused them to open up and become the normal ball-like shape.
"What this treatment does, is we are adding substance that is going to increase anti-oxidant in red blood cell and this seems to prevent all the damages that's caused by sickling," explained Dr. Niihara.
When Nihara and his team began to administer a strong form of glutamine to patients, the results were astonishing.
"We had about 85 percent success. One child had kidney dysfunction which is not uncommon for sickle cell patients. After starting on this medication, the kidney function start to normalize and this was really a fascinating story for me because this was one case where things actually reversed," he said.
Juanita and Dave volunteered for the study.
"It's better to try something that could possibly give me less frequent crises. Even if it doesn't work for me, it might work for the next person that has sickle cell," Dave said.
Dave's crises went down from once a month to once every three months.
Juanita, who used to go to the the hospital for treatment six times a year, only went once in the last year and a half.
Researchers hope to one day start the treatment in infancy in order to prevent organ damage.
Fortunately doctors may be on the verge of discovering new treatments.
The hospital is a painfully common place for Juanita Gougis and Dave Auberry.
They have sickle cell anemia, and pain is just part of it.
In Dave's case it affected his growth. For Juanita it meant countless days away from school and social events.
Blood transfusions and surgery can reduce the risk of stroke and other complications, but there is no cure yet.
Dr. Yutaka Niihara may change that.
He made a surprising discovery when he was doing research on sickle cell.
"We did not want to believe it because it just seemed so simple," Dr. Niihara said.
The researchers found that when they applied glutamine, a common amino acid and nutritional supplement, to sickled cells in the lab it caused them to open up and become the normal ball-like shape.
"What this treatment does, is we are adding substance that is going to increase anti-oxidant in red blood cell and this seems to prevent all the damages that's caused by sickling," explained Dr. Niihara.
When Nihara and his team began to administer a strong form of glutamine to patients, the results were astonishing.
"We had about 85 percent success. One child had kidney dysfunction which is not uncommon for sickle cell patients. After starting on this medication, the kidney function start to normalize and this was really a fascinating story for me because this was one case where things actually reversed," he said.
Juanita and Dave volunteered for the study.
"It's better to try something that could possibly give me less frequent crises. Even if it doesn't work for me, it might work for the next person that has sickle cell," Dave said.
Dave's crises went down from once a month to once every three months.
Juanita, who used to go to the the hospital for treatment six times a year, only went once in the last year and a half.
Researchers hope to one day start the treatment in infancy in order to prevent organ damage.
Sickle Cell Disease is an evolutionary response to Malaria. If we can stop sickle cells from forming, will malaria be a greater threat?
Sickle Cell disease has supposedly been around for 70,000-150,000 years.
"Available calculations suggest that this gene has developed between 3000 and 6000 generations, approximately 70000-150000 years ago", (http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijhe/vol1n2/sickle.xml)
In all the regions where this disease originated, there is an endemic of malaria.
Malaria is a disease caused by protozoan parasites and are transferred between individuals by a vector (mosquitoes). Malaria has many affects on individuals, however since we have covered most of this in class; I will go over the general sociological and economic effects (Same with Sickle Cell Anemia).
Malaria infects about 400-900 million and kills 3 million of these a year and the vast majority infected are under 5 years of age. The death rate could double in twenty years if conditions remain the same (http://www.ajtmh.org/cgi/reprint/64/1_suppl/1-c) In Sub-Sahara Africa, 85-90% of fatalities from Malaria occur.
Malaria has also been a cause of poverty in many Sub-Saharan countries, it is estimated to cost $12 Billion US Dollars per year.
Since Sickle Cell Disease is a result of a recessive trait, those which are homozygous recessive have a high chance of death. People who are homozygous dominant, will be affected by malaria. The true advantage is to be heterozygous. Heterozygous individuals have a dominant trait, and a recessive trait, which lets them become immune to malaria and still able to live. This is where the problems with this treatment begin, will more people die from Malaria because we cure sickle cell anemia?
Some doctors say that the trade off is better for those with sickle cell disease to take Glutamine because Malaria can be prevented by other methods such as Mosquito nets or Jesuits Bark.
http://www.newadvent.org/cathen/08372b.htm
Personally, I find that anything that will save lives is a good thing.
"Available calculations suggest that this gene has developed between 3000 and 6000 generations, approximately 70000-150000 years ago", (http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijhe/vol1n2/sickle.xml)
In all the regions where this disease originated, there is an endemic of malaria.
Malaria is a disease caused by protozoan parasites and are transferred between individuals by a vector (mosquitoes). Malaria has many affects on individuals, however since we have covered most of this in class; I will go over the general sociological and economic effects (Same with Sickle Cell Anemia).
Malaria infects about 400-900 million and kills 3 million of these a year and the vast majority infected are under 5 years of age. The death rate could double in twenty years if conditions remain the same (http://www.ajtmh.org/cgi/reprint/64/1_suppl/1-c) In Sub-Sahara Africa, 85-90% of fatalities from Malaria occur.
Malaria has also been a cause of poverty in many Sub-Saharan countries, it is estimated to cost $12 Billion US Dollars per year.
Since Sickle Cell Disease is a result of a recessive trait, those which are homozygous recessive have a high chance of death. People who are homozygous dominant, will be affected by malaria. The true advantage is to be heterozygous. Heterozygous individuals have a dominant trait, and a recessive trait, which lets them become immune to malaria and still able to live. This is where the problems with this treatment begin, will more people die from Malaria because we cure sickle cell anemia?
Some doctors say that the trade off is better for those with sickle cell disease to take Glutamine because Malaria can be prevented by other methods such as Mosquito nets or Jesuits Bark.
http://www.newadvent.org/cathen/08372b.htm
Personally, I find that anything that will save lives is a good thing.
1 comments:
It's a "damn if you do, damn if you don't" type of thing...although you might agree that a cure to sickle cell disease is a good thing there is the flip side...
Some people even oppose to the use of anti-malarial nets....
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