Re. Sickle Cell Anemia

[Guest guest]

Jeff,

Below I have pasted passages from Functional Medicine Update, a quarterly digital version of a newsletter from HealthComm, the research organization under Jeffrey Bland's leadership. It is, of course, unrelated to TCM, but if you wish to research the current state of Tx of this disorder you may wish to do a search including fetal hemoglobin.

(For some reason the paragraphs from the 2 separate pages printed in different fonts.)

This example of molecular medicine echoes the theme Dr. Linus Pauling originated in 1949. Together with Dr. Charles Itano, he wrote a landmark article on sickle cell anemia that was published in Science magazine that year.2 They described sickle cell anemia as a molecular disease and defined, for the first time, how a single point gene mutation on the genome could create a substitution of one amino acid for another on the heavy chain of the globin of hemoglobin. That substitution produced a change in the shape of the molecule of hemoglobin, causing it to pack and become more hydrophobic. It crystallized with itself and produced the observed birefringence, and caused the red cell to change shape and become sickle-shaped. That sickle cell cuts its way through the vasculature, producing symptoms in distant organs. A single genetic event produced this wide-ranging series of effects.

 

 

 

 

Nearly 50 years after Dr. Pauling had published his original paper, the New England Journal of Medicine in 1993 published an article validating the sickle cell theory.3 Investigators reported they could upregulate the gene expression of fetal hemoglobin in individuals who carry the genetic characteristic of the sickled hemoglobin by administering an infused level of sodium butyrate, the sodium salt of the simple 4-carbon fatty acid butyric acid. When its expression was upregulated in the adult, the fetal hemoglobin could dilute the sickled hemoglobin and prevent it from packing together and crystallizing, averting the shape change of the red cell associated with the sickle crisis. Here is a way of actually modifying gene expression, even when an individual carries the mutant gene associated with the single point gene mutation on the globin molecule involved in sickle cell anemia.

No one, regardless of his or her belief about vitamins, minerals, or nutrients, can underestimate the impact of this emerging understanding of the molecular origin of disease on health care.

2. Pauling L, Itano HA, Singer SJ, Wells IC. Sickle cell anemia, a molecular disease. Science. 1949;110:543-548.

3. Perrine SP, Ginder GD, Faller DV, et al. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the b -globin disorders. N Engl J Med. 1993;328:81-86.

 

(Searching the nejm archive, I found the above article here: http://www.nejm.com/content/1993/0328/0002/0081.asp)

 

 

I hasten to say i have never treated this disorder and only refer you to these references i have stumbled across recently.

My apologies if this is elementary with regard to what the family has already tried.

 

Ann Brameier