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.
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".
