Sickle cell disease cured in France with genetic engineering

Sickle cells can aggregate in narrow blood vessels and cause pain


By Talha Soluoku and Ajide Elizabeth

A major breakthrough has been recorded in the world of genetic engineering therapy,scientists have been able to
genetically modify the instruction given to the bone marrow by stem cells of sickle cell patient causing an alteration in sickle shaped cell production process to give healthy red blood cells instead.

Sickle cell disease results in the formation of abnormally shaped red blood cell (RBC) whereby the RBCs produced in the bone marrow is sickle shaped instead of being rhomboid shape, the alteration in shape is caused by the malformation of hemoglobin resulting in both inability of the cell to take up oxygen for transport and also inhibiting the free flow of blood cells in blood vessels especially capillaries, all these culminate in pain, ischemia, organ damage and could be fatal.

Health benefits of the procedure

The pioneer procedure was carried out in France by a team headed by Prof. Philippe Leboulch at the Necker Children Hospital on a 13 year old French teenager with sickle cell disease. The therapy has worked for 15 months and the child has not been on any medication, neither has he been transfused nor admitted for any complications of sickle cell disease. The child now produces normal red blood cells.

New hope for many
This therapy is a first of its kind in the world and its promises to put smile on the face of many soon, it basically involves the researchers extracting the bone marrow from the patient, harvest the stem cells and genetically alter the sequence responsible for giving command that lead to production of ‘ sickled cells’ to do otherwise ( produce robust, healthy red blood cells), thereafter the diseased stem cells are all eliminated to give room for the newly refined stem cell to act using chemotherapy. Leboulch stated that ‘’ at this stage, the new cells had started to produce new blood cells and we hope this will be stable for the life of the patient’’ he said that there are about 7 other cases presently undergoing the same therapy in the US although results are not yet out.

Another good news is that the method is not only limited to the treatment of sickle cell disease , it is also presently being used by Leboulch and his team to treat several genetically induced blood problems like thalassemia, for which clinical trials at phase 2 and phase 3 are ongoing in different parts of the world.

Notes of caution
While stating that the procedure would be more effective and have a higher chance of success in neonates and infants relative to adults the professor was cautious with his hopes stating that ‘’ now, we want to be cautious, of course we don’t want to say that this is the cure for tomorrow or the next day for everybody, at the same time what we have observed is really convincing, and we just hope that we can move along to make it available to patients.’’
Although still at an early stage and requiring more time to fine tune, the medical world are seeing the light at the end of the tunnel.

To reiterate the impact of sickle cell disease (SCD), below are important facts about the disease:
1. Sickle cell disease is a lifelong condition caused by a faulty gene that affects how red blood cells develop.
2. SCD mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin.
3. People with sickle cell are often at an increased risk of contracting serious infections or become anaemic leading to tiredness and shortness of breath.
4. People with sickle cell disease require comprehensive health care because of several complications that may arise as a result of the disease.

5. It is estimated that each year over 300 000 babies with severe forms of these diseases are born worldwide, the majority in low and middle income countries.

6. Approximately 5% of the world’s population are healthy carriers of a gene for sickle-cell disease or thalassaemia. The percentage of people who are carriers of the gene is as high as 25% in some regions.

7. These conditions are most prevalent in tropical regions; however population migration has spread these diseases to most countries.

8. Sickle-cell disease predominates in Africa.

WHO says sickle-cell disease can be managed by simple procedures including:

• High fluid intake
• Healthy diet
• Folic acid supplementation
• Pain medication
• Vaccination and antibiotics for the prevention and treatment of infections
• A number of other therapeutic measures

Author: Faisol Oladosu

Faisol - founder of Ajipe.com

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