Sickle cell anemia is a disease wherein the hemoglobin, or the protein in the red blood cells that carry oxygen, when viewed under a binocular zoom stereoscopic microscope are shaped like a sickle, or the curved instrument that is used in harvesting. Imagine a crescent moon shape, as opposed to a round shape, which is the normal shape. Sickle cell anemia is an inherited blood disorder and people from African ancestry are most affected by it. The blood disorder occurs when a person inherits two abnormal genes, one from each parent. The shape of the sickle cells are not permitted to flow easily through the blood stream, and have a tendency to stick or clump together. The result may be the painful clogging of blood vessels and the organs are deprived from much needed oxygen that is vital to function properly.

In an effort to improve the therapeutic measures for sickle cell anemia, scientists from the laboratory of Whitehead Member Rudolf Jaenisch embarked on a study where laboratory mice with the sickle cell disease trait were treated by the reprogramming of their own cells to an embryonic stem cell state, without having to use eggs, as most stem cell researches do. The process is called Induced Pluripotent Stem or IPS and is the first proof of therapeutic applications in mice and the reprogramming of cells.

Jacob Hanna, the lead author of the study, explains that in creating the IPS cells, they had to start with the cells from the mice afflicted with the disease. Using a binocular zoom stereoscopic microscope, the cells were amended by laboratory techniques that used retroviruses to introduce genes into the cell’s DNA. The genes that were inserted are called Oct4, Sox2, Lif4 and c-Myc and are known to work together in order to regulate and keep the cells as the scientists want them, in an embryonic stem cell like state. These IPS cells were painstakingly chosen according to their morphology. They were then verified to determine if they expressed specific gene markers of the embryonic stem cells. With a binocular zoom stereoscopic microscope, the c-Myc gene was taken away from the equation, as this may promote the growth of cancer in the treated mice. Then the researchers differentiated embryonic stem cells to precursors of adult bone marrow cells, which are transplanted into the affected mice to promote normal blood cells. They did this by obtaining precursor cells from the IPS cells, put a normal gene to replace the defective gene and injected the cells back into the mice afflicted with the sickle cell anemia.

After the blood of the treated mice was analyzed using standards as laboratories use for humans, the researchers found that the disease was remarkably reduced, and the blood and kidney functions were almost normal. This means that the IPS cells have potential in therapy use, just like embryonic stem cells are being used. The bonus is that it doesn’t have the ethical and legal issue associated with it, as the creation of embryonic stem cells has. Further research is being conducted to determine if the IPS cells works just as well in other diseases.  Read more on this subject