The human body requires a constant supply of oxygen to our body, which is carried to the tissues of our body through the movement of red blood cells in our vessels. These cells contain many molecules of haemoglobin, which is a compound specialized in binding the oxygen we breathe and transport it around the body. The sickle cell trait is a genetic mutation that is carried in DNA and alters the haemoglobin molecule, ultimately causing a change in the shape of red blood cells. In certain conditions, the changes in the red blood cells result in a characteristic sickled or crescent shape instead of the normal, round doughnut shape.
To put this medical condition into perspective, imagine changing the shape of cars in a city so that they could not fit on the streets. This would not be a problem while driving on the highway, but when the streets become narrow, the cars would crash into one another and traffic would stop. This is what may happen when the red blood cells are misshapen.
Sickle cell disease has many associated health issues, including the impaired ability of red blood cells to transport oxygen to the body’s tissues. The change in the shape of red blood cells hinders their ability to pass through the body’s tiny capillaries without getting wedged inside and obstructing blood flow to downstream tissue. This process may have widespread implications, both in the short and long term ranging from sudden intense pain crises to accumulated damage to the heart, lungs, liver, kidneys, spleen, bones and joints.
The only potentially curative therapy for sickle cell disease is a stem cell transplant, which isn’t routinely performed as it comes with a large number of risks and is reserved for those not responding to other treatments. Medication is available to decrease the incidence of acute episodes and to try and modify the progression of the disease, and some patients will require blood transfusions for acute episodes. These advancements have resulted in the majority of those diagnosed surviving into adulthood, although their life expectancies are still greatly stunted with leading causes of death attributed to cardiac and pulmonary causes.
Though sickle cell disease is a serious health issue in Vancouver, several organizations help educate patients about their condition. However, last year it was identified that the sickle cell disease issue was completely undocumented in rural Nepal. This summer, a group of UBC medical students will be travelling to Western Nepal to continue a sickle cell screening project that commenced in 2015. The team will be working with local scientists and healthcare professionals to screen as many people as possible while offering counselling and referrals to those who test positive.
The sickle cell trait is known to be common among a subset of the Nepali population of Tharu origin. Last year’s team found that approximately 10% of the people screened had sickle cell. This represents a massive unknown in the Nepali population that is likely a significant factor in the health outcomes for patients in rural Nepal. Our team hopes to make a meaningful difference to the lives of the people through screening and health education. If you would like to find out more information about the trip or would be willing to make a donation, please visit the website at www.ubcsicklecell.wordpress.com and https://www.canadahelps.org/…/ubc-med-nepal-sickle-cell-sc…/. Donations of any amount are greatly appreciated and any support you have to offer will go directly to screening more patients on our trip this summer. Our long-term vision is to publish the research and continue to work with local Nepali health care practitioners to improve care for those diagnosed with sickle cell disease. We hope that we may then encourage the Nepalese government to provide better support and health care subsidies to those diagnosed with sickle cell disease.
On behalf of the 2016 sickle cell screening team at UBC, we appreciate any and all support that you may be able to offer and welcome any inquiries about our planning process or the trip itself.
2016 Nepal Sickle Cell Screening Team