HISTORY OF SICKLE CELL DISEASE
June 19 is observed as “World Sickle
cell day” every year.
On 22nd December 2008,
The United Nations General Assembly decided to celebrate “World Sickle cell day”
on June 19 every year to raise awareness about Sickle cell disease. Sickle cell
disease is recognized as a public health problem and ‘one of the world’s
foremost genetic diseases’.
In this post, lets see the history
of sickle cell disease (SCD).
SCD was first discovered in 1910
in medical history. But it was known in Africa even atleast five thousand years
before and was called by various names.
Here it goes, how the SCD came into
light in medicine.
A young dental student, Walter
Clement Noel from the island of Grenada, was studying in Chicago. He had
complaints of pain and symptoms of anemia, for which he visited a cardiologist
Dr. James B.Herrick. Noel was seen by Herrick resident Dr.Ernest Irons as
Herrick was not interested in this case.
Dr.James B. Herrick and Dr.Ernest
Irons.
And now the surprise came to
everyone. Irons saw Noels blood under the microscope and he saw the red blood
cells having the shape of sickle cells. Herrick saw this in the chart and got
interested as he thought this might be a new disease. He subsequently published
a paper and described it as sickle shaped cells. The mystery of this disease
was getting deepened as more cases emerged. One thing was clear, it occurred
primarily in persons of African origin. In 1922, Dr.Verne Rheem Mason, medical
resident at Johns Hopkins, named the disease as Sickle cell anemia, based on
the description of Ernst Irons.
Sickle
In 1927, Hahn and Gillespie
discovered that red blood cells from persons with SCD could be made to sickle
by removing oxygen. They also found that the relatives of this SCD patients had
this trait of sickling when deprived of oxygen
but had no disease. This condition was known as “sickle trait”.
Many people were working on this
SCD which led to publication of two significant articles in 1949. One was by
Col.E.A. Beet, a military doctor from Portugese East Africa, now Mozambique in African
Medical journal and the author was by Dr.James V. Neel, Chairman and founder of
the Department of Human Genetics at the University of Michigan in American
journal Science. It showed that SCD was
inherited. It can be either homozygous (SS) or heterozygous (carriers or AS).
In 1951, Dr.Linus Pauling, the
famous Nobel Prize- winning chemist and his colleague, Dr.Harvey Itano, discovered
that the patients with SCD had a different chemical structure in their hemoglobin.
Hence, Dr.Pauling coined the term “molecular disease” for disorders which
resulted from proteins with abnormal chemical structure. In 1951, SCD was the first disease in that group,
though thousands of diseases are known now. The actual amino acid substitution
was discovered by Dr.Vernon Ingram in 1956.
In 1970s, more details were
revealed about this disease and better tests for detection were developed. In
the following years, better ways of treatment emerged which improved the
quality of life of patients. Genetic counseling became an important measure. Great
progress has been made in understanding the disease and its treatment.
A disease, which can be traced
back to more than five thousand years in Africa, discovered only in 1910 in America,
by a medical resident and the disease being named after an agricultural
implement owing to the shape of red cells is Sickle cell disease.
References:
1. www.sicklecell.howard.edu.
2. Images
taken from Google images.
Written
by Dr.Priyavadhana.
Wow. Very interesting. No one have came this history before. We only read what is mean by sickle cell nd findings. But u have explained the history behind it . Thank you
ReplyDeleteThank you for your kind words.
DeleteInteresting read ma'am..
ReplyDeleteThank you
Delete