Saturday, September 19, 2015

Do You Really Know About Sickle Cell Disease? (Part 2)

The origin of the mutation that led to the sickle-cell gene was initially thought to be in the Arabian Peninsula, spreading to Asia and Africa. It is now known, from evaluation of chromosome structures, that there have been at least four independent mutational events, three in Africa and a fourth in either Saudi Arabia or central India. These independent events occurred between 3,000 and 6,000 generations ago, approximately 70-150,000 years.  So this just goes to show you that sickle cell disease (SCD) has been around for a very long time, since the 1600’s, and behooves me that the research, therapies, or even a cure has not been developed or discovered for brown people who are affected by this disease.  It is the only disease where the body mutated the red blood cells to preserve the body from malaria in the areas where SCD is known to originate.

The transatlantic slave trade was largely responsible for introducing the sickle cell gene into the Americas and the Caribbean. However, sickle cell disease had already spread from Africa to Southern Europe by the time of the slave trade, so it is present in Portuguese, Spaniards, French Corsicans, Sardinians, and Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease appears in most of the near and Middle East countries including Lebanon, Israel, Saudi Arabia, Kuwait and Yemen.  The condition has also been reported in India and Sri Lanka. SCD is an international health problem and truly a global challenge.

The majority of sickle cell cases occur among African Americans who are either from Africa or can trace their lineage back to Africa. Other populations that the sickle cell gene is common in are located in the Mediterranean, Middle East, and India areas. These geographic locations are also home to the disease of malaria. It is believed that sickle cell anemia originated in these locations in response to malaria. People infected with sickle cell anemia are less vulnerable to malaria. This has caused an environment where people with the sickle cell disease survived due to less mortality from malaria. As the slave trade began, blacks that were transported to areas devoid of malaria no longer had a use for the sickle cell disease and so it became nothing but a debilitating hindrance.

There is a collection of clinical findings that was unknown until the explanation of the sickle cells in 1904 by the Chicago cardiologist and professor of medicine James B. Herrick (1861-1954).  Herrick’s intern Ernest Edward Irons (1877-1959) found "peculiar elongated and sickle-shaped" cells in the blood of Walter Clement Noel, a 20-year-old first-year dental student from Grenada, after Noel was admitted to the Chicago Presbyterian Hospital in December 1904 because he suffered from anemia.

It was not Noel’s only hospital stay, he was readmitted several times over the next three years due to what the doctors assumed to be "muscular rheumatism" and "bilious attacks". Noel completed his studies to become a dentist and returned to the capital of Grenada (St. George's) to practice dentistry. He died of pneumonia (which is a common reason of death for those living with SCD today) in 1916 and is buried in the Catholic cemetery at Sauteurs in the north of Grenada.

The disease was named "sickle-cell anemia" by Vernon Mason in 1922. However, some elements of the disease had been recognized earlier: A paper in the ''Southern Journal of Medical Pharmacology'' in 1846 described the absence of a spleen in the autopsy of a runaway slave.  This is common for most who have the SS hemoglobin, for the spleen to shrivel up like a raisin and is non-functional from birth.  However, those living with SC hemoglobin like myself the spleen is oversized and non-functional and will continue growing in the body until it ruptures.  I’ve experienced my spleen rupturing!  It grew to the point that it was beginning to move other organs around it, pushing to make more room for itself.  My spleen was removed and it was white and gray in color while the other organs around it were red and functioning properly.  It was the size of a premature baby, when a normal healthy spleen should be red like the organs around it and the size of a fist.

The African medical literature reported this condition in the 1870s, when it was known locally as ''ogbanjes'' ("children who come and go") because of the very high infant mortality rate caused by this condition. A history of the condition tracked reports back to 1670 in one Ghanaian family. Also, the practice of using tar soap to cover blemishes caused by sickle-cell sores was prevalent in the black community.

Linus Pauling and colleagues were the first, in 1949, to demonstrate that sickle-cell disease occurs as a result of an abnormality in the hemoglobin molecule. This was the first time a genetic disease was linked to a mutation of a specific protein, a milestone in the history of molecular biology, and it was published in their paper "Sickle Cell Anemia".

~By Tina Kay 

Sickle Cell Awareness Month 2015 (Part 1)

Sickle Cell Awareness month is September every year…and every year I share with you facts about SCD, information that will help people living with SCD, and how you can make a difference….but the most important thing I thought I could share with you, by not being transparent and sharing with you the good, bad, and real ugly with you, my FB family….Sometimes I think I’m simply wasting my time on this crusade to educate the public while trying to make life a little easier and worth living for people like me, who live with SCD….We need you (the person reading this) to do something this year!  Not another walk, run, gala, dare, or anything that is just fluff….In days to come I will share how you can help and give  lots of information about a disease that does not get much attention!  Watch out for “Painting for a Purpose Parties” and local high schools will compete against each other in the Birmingham, AL area, where you can find art work created by those living with SCD in an art gallery near you and how you can save lives and give people like me a better quality of life….You can be the change maker with it costing you very little to nothing but your time.  It’s time for a change and stop waiting for someone else to break the cycle and cause a change.

: In its simplest terms, the red blood cell is like a car driving throughout the body & every part of your body needs the oxygen that is supplied by the red blood cell.  So think of a regular red blood cell as a brand new shiny car that’s never been driven and is ready to take the road for an across the country trip (its shaped like a Krispy Kreme doughnut that’s nice an soft), all gassed up and ready to roll.  On the other hand you have a sickled red blood cell as an old lemon of a car (a Krispy Kreme doughnut that’s been sitting in the box for about a week, it’s hard, and someone has taken a bite out of it and put it back into the box) the air doesn’t work, it makes noises, cuts off whenever if feels like it causing traffic jams, parts are constantly coming off and just not very safe to drive)……A regular red blood cell has a life of 120 days & a sickled red blood cell will live in the body for 10-20 days at best…the job of the red blood cell while its taking this cross body (or country) drive is to drop off oxygen and pick up carbon dioxide and other bad gases that need to be removed from the body….The red blood cell travels through arteries & veins to get the job done and provide the organs, brain, tissue, bones, and even places in the body we don’t even think about with the oxygen needed to continue to do its job as a body…..However, the regular red blood cell has no problems getting through tight spaces because it was designed to be soft, squishy, and easy to maneuver throughout the body with no problems…..but the sickled cell isn’t even fit for the roads inside our bodies b/c they are hard, break easily, and cause traffic jams anywhere oxygen is needed within the body which is everywhere…..If the body does not have or get oxygen supplied throughout the body it dies (and everything needs red blood cells in the body to function properly).  So here we have a brand new cell (the shiny car) and a broken, damaged, and causing traffic jams throughout the body and can just barely make it to the state line on a cross country (body) trip.  The percentage of sickled cells found inside someone who lives with Sickle Cell Disease is extremely high (60-95%).  What are the chances that someone living with SCD living a long and awesome quality of life?

~Tina Kay