Monday, March 16, 2009

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preimplantation genetic diagnosis saves the life of Andrew.



news has been in Spain in recent days the cure of a Seville hospital's brother's first baby medicine English. Andrew (in the picture left) was a child who suffered beta thalassemia major, a genetic disorder characterized by the production of hemoglobin defective causes enormous anemia in making patient has to be subjected to frequent blood transfusions because not only the hemoglobin carries oxygen to the cells but erythrocytes (red blood cells) that also carry a large extent destroyed, it binds to the iron absorption by the body increases with transfusions are making accumulate in the heart and liver to produce long-term serious cardiac problems. In addition, patients with this disease have a life expectancy of no more than two decades.
The cure for this disease goes through the bone marrow transplant (the factory of blood cells) in order that the patient begins to produce functional hemoglobin, however this technique has a major drawback is that the donor must be compatible with the patient, at this point should be noted that there is a huge match among siblings. There are three types of bone marrow transplantation, autologous (with bone from the patient), syngeneic (with marrow from an identical twin of the patient) and allogeneic (With bone from another person), nor to say that in thalassemia does not make sense autologous marrow transplant patient and that the absence of twins eliminates the possibility of syngeneic. The only solution is finding a donor, and in this case Andrew (the little star of seven years) had none after searching on a global base of more than eleven million donors. If a brother was born healthy stem cells were obtained from the umbilical cord could be used to regenerate diseased marrow, but ... how do you ensure the birth of a brother Free of Thalassemia?.
A technique called preimplantation diagnosis solución.En came to make the synthesis process is to obtain several embryos through in vitro fertilization . When the embryo is formed by only a few cells (6 to 10) is extracted from them to study their DNA. The extracted material is multiplied by a technique called chain reaction reaction (PCR ) and subjected to hybridization with DNA fragments containing alleles of the disease (if two fragments are equal, hybridize). If there is hybridization disease allele and therefore the embryo will result in a thalassemia fetus, however if there is not this is a healthy embryo is implanted in the mother lead to the brother whose umbilical cord stem cell collection to be implemented.
Andrew was subjected to a destruction of diseased marrow with strong chemotherapy to proceed then replaced with cells from neonatal cord. The result is a success , since 95% of circulating blood cells and their derived little new bone.

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