Sickle Cell

Anemia
What is it?
What is it?
Sickle cell anemia is an inherited disorder of
the red blood cells caused by mutations in
the hemoglobin genes. These mutated blood
cells are shaped like sickles.
The gene
Hemoglobin Subunit Beta (Also Known as HBB) is a
gene that helps code for Beta-globin, an essential
protein that works with hemoglobin

Sickle Cell Anemia is caused by a substitution

mutation in the HBB gene that changes a single
amino acid in beta-globin. The amino acid glutamic
acid is replaced with the amino acid valine at position
6 in beta-globin.
History
Ernest E. Irons was the first person to report on SCD in 1910 however his
boss, James B. Herrick was credited with the discovery because at the time,
Irons was Herricks intern.

Irons saw "peculiar elongated and sickle-shaped" cells in the blood of a man
named Walter Clement Noel, a 20-year-old first-year dental student from
Grenada.

In 1954, through the process of Hemoglobin electrophoresis, Doctor Vernon

Ingram discovered multiple subtypes like HbSC disease

Pictured: (top) Dr. Vernon Ingram, (Bottom) Dr. Ernest Irons

Patient “Zero”
Ellis Island immigration paper containing
Walter Clement Noel, born in 1890 was an immigrant from Noels details (Very bottom)
Grenada and came through New York to study dentistry.

Noel was very smart and was one of the few African
Americans in 1904 who were allowed to study in college,
however after struggling with a leg ulcer, went to the
Chicago Presbyterian Hospital where he was treated by
Doctor Herrick and Doctor Ernest E. Irons.
Demographics
Sickle cell disease occurs more commonly among people who The number of people with the
live in tropical and subtropical sub-Saharan regions like disease in the USA is about
Brazil, Central Africa, and Southeast Asia 100,000 or 1 in 3,300, typically
affecting Americans with ties to
African ancestors. In the USA,
about 1 out of 365 African-
American children have sickle
cell anemia.
 Symptoms of sickle cell anemia
Vision problems
Acute Chest Damage to the blood vessels in the eyes can
lead to vision impairment or even blindness
Syndrome
A condition that can cause breathing
Swelling
Blood flow obstruction can lead to
problems, fevers, and a cough
swelling, particularly in the hands
and feet.
Fatigue
Reduced oxygen delivery due to Pain Crisis
abnormal red blood cells can lead
to fatigue and weakness. Episodes of pain caused by
sickle shaped blood cells
Jaundice blocking blood vessels
When the skin turns yellow Growth problems
due to your blood cells
Children with SCD may experience delayed
growth and puberty due to chronic illness.
 Who’s more at risk?
Gender
The ratio of men to
women affected by SCD is
almost 50/50. The ratio of
diagnosed males to
females was 49/51.

51% Female 49% Male

 Key numbers
20,000,000
People affected by SCD worldwide
1,538,500
Of those affected are of African decsent

100,000+
People affected by SCD in the US.
 Diagnosing Sickle Cell Anemia
How?

Blood tests
The most common way of
diagnosing SCD is by
running blood tests.
A pathologist will run tests
on your blood sample and
run it through a process
known as electrophoresis.
 Treatment
Blood transfusions
Red blood cell transfusions may be
recommended to replace sickled cells
with normal red blood cells, improving
oxygen delivery and reducing
complications.

Bone Marrow Transplants

a bone marrow transplant from a matched donor
can potentially cure sickle cell disease by
replacing the patient's defective bone marrow
with healthy marrow.
 Famous people with SCD

King Tutankhamen
Tionne
Miles Davis Tiki Barber
Egyptian king Jazz artist Professional NFL “T-Bozz”
Player Watkins
Singer (TLC)