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Bone Marrow Transplant
I would like to know if Bone Marrow Transplant changes the genotype of a sickle cell disease patient?
Short answer: the genotype of your blood cells is changed, nothing else.
This is how a stem cell (progenitor cell that can become any type of cell) transplant is done:
First you have to have a “match”. The match is done by testing to see if the markers of immunity (HLA) are the same for the person donating the progenitor cells as the person receiving the cells. Not all the markers can be tested, so the 10 most important are. This means if you have a full brother or sister with immune cells that match yours probably other markers that are not tested will also match and you have a donor. You may not have a full brother or sister and in that case you might be able to find a “matched unrelated donor”, someone who by chance has these same 10 markers on their immune cells as you do, but they are not as fully matched as a full brother or sister. There are other types of donors: cord blood stem cells or haplo-identical donors (like a parent).
The cells that are collected from the donor originate in the bone marrow, they are the cells that can become all of the cells in your blood, most importantly if you have sickle cell disease, the red blood cells. These are the only cells that these progenitor cells are able to change into. Your blood is changed, but nothing else. After you have a transplant and are able to have children (some people are sterile after a transplant from the therapy to allow the progenitor cells to survive and grow in your bone marrow) the chances of having a child with sickle cell disease is the same as it was before the transplant.
There is a whole field of “regenerative medicine” that is focused on finding ways to restore organs to normal function. Some of the therapies use different types of progenitor cells to restore function.
I have sickle cell SS and I am 40 years young. I get pheresis blood exchange every 3 weeks and it has worked for me the last 4 years but due to other problems, what do you think about the bone marrow transplant? My sister and I are in the process now because I decided I wanted to do this.
There are studies looking at transplant for adults. Go to ClinicalTrials.gov and you will see that there are many trials for sickle cell disease. What is best for you? Only you and your primary care provider can sort that out. Everything in medical practice has positive and negative effects, benefit and risk. You can decide how much risk you are willing to accept with a transplant. When you are looking at studies see who is running the study. Look them up online. You can ask what their track record is, how many transplants have they done for people with sickle cell disease? What were the outcomes? How many people have completed the study, have there been problems with outcome. If a study cannot give you any information about outcomes you have to weigh that in your decision. Not something to take lightly. Primary Investigators (PI) are doing the study because they feel it will (a) advance medical science or (b) it will be of benefit to people with sickle cell disease. They are not equivalent, advance medical science: more risk. Benefit people with sickle cell disease, probably less risk. PI’s have a bias. Most will be up front and let you know the risks in very frank terms. If you are relatively healthy you can expect to have a better outcome than someone who has had complications of their sickle cell disease.
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