Sickle Cell anemia (SCA) or hemoglobin SS is a genetic red blood
cell disorder in which the hemoglobin; the protein in red blood cells that
carries oxygen throughout the body; is shaped like sickles or crescents. The misshapen
blood cells with affected hemoglobin can impact the human body by way of
misshapen cells getting stuck in blood vessels leading to pain blocked blood
flow which can cause organ damage to the spleen, brain, eyes, lungs, liver,
heart, penis, joints, kidneys, bones, and skin. These misshapen cells are also
unable to survive as long as unaffected blood cells which causes anemia; a
deficiency of red blood cells or of hemoglobin in the blood. Sickle Cell is an
inherited disease; passed from parents to children; which means people are born
with this disease and it is not contagious to anyone unlike viruses or
bacteria.

 In a healthy human the
individual carries two hemoglobin A genes. If the person has a hemoglobin S
gene then they have the sickle cell trait, if they carry two hemoglobin S genes
then they have sickle cell. This disease is passed when both parents have the
sickle cell trait (AS) or disease (SS), which one in twelve African Americans carries
this trait. The individuals with the trait can suffer from complications
associated with sickle cell but it is rare. A simple blood test usually done at
birth can show if you have the trait or the disease. (Site https://medlineplus.gov/sicklecellanemia.html) Along with hemoglobin S there are several other abnormal
hemoglobin genes that can lead to sickle cell. If one parent has the hemoglobin
S gene and the other caries one of these other abnormal hemoglobin genes the
child can be born with Hemoglobin SC, Hemoglobin S?0 thalassemia, Hemoglobin
S?+ thalassemia, Hemoglobin SD, or Hemoglobin SE.  If the parents of a child both have the trait
(AS) then the child has a 25% chance of inheriting two normal genes, a 50%
chance of inheriting the sickle cell trait (AS) and a 25% chance of inheriting
two hemoglobin S genes or sickle cell disease. Both males and females can get
sickle cell disease and sickle cell trait, and every time the couple or parents
have a child the percentage remains the same. (Site https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease)

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Hemoglobin (Hb) is a protein in red blood cells (RBC) made up of
alpha and beta chains. In individuals with sickle cell anemia the child
receives two defective genes for the beta chain. This can causes the RBC to
take an abnormal shape from a round donut shape to an elongated “C” or sickle
shape. Normal RBC’s can move inside of small vessels of the body with ease
delivering important oxygen to tissues in all organs of the body. When a sickle
cell with its “C” shape enters a small vessel it can get stuck or wedge on valves
or vein’s bifurcations. This can cause extreme pain, and block blood flow
causing tissue damage, tissue death, or organ death which can be fatal for the
patient. These cells also have a much shorter life span then normal RBC’s. A
normal RBC can live for about 120 days in circulation, whereas a sickle RBC
usually dies within 10 to 20 days causing anemia in patients. (red book)

The most common symptoms of sickle cell are pain and complications
from anemia. Anemia is a condition marked by a deficiency of RBC’s or of
hemoglobin the blood stream. This can cause fatigue, rapid heartbeat
(tachycardia), shortness of breath, headache, difficulty concentrating,
dizziness, pale skin, leg cramps, and insomnia. All of the signs and symptoms
differ however depending of if you have the more common SS type of sickle cell
or if you have one of the more rear types. Most all children diagnosed with any
form of the disease have anemia. The other symptoms vary from case to case and
include, acute chest syndrome (inflammation, infection, or occlusion of small
vessels in the chest), aplastic crisis (when bone marrow temporarily slows RBC
production due to infection), hand-foot syndrome (swelling of hands and feet
common in infants), infection, painful crisis (caused by cold or dehydration),
splenic sequestration crisis (spleen becomes enlarged from collecting the
deformed RBC’s), stroke, leg ulcers, bone and joint damage or pain, gallstones,
pulmonary fibrosis, kidney damage, painful prolonged erections, delayed growth,
and eye damage. (red book)

In the United States, sickle cell anemia or hemoglobin SS mostly
affects African Americans. However, forms of the disease can be found in
individuals with Mediterranean ancestry (Greece, Italy, and turkey), Middle
Eastern ancestry and Indian ancestry. Diagnosing sickle cell can be
accomplished from prenatal DNA testing, peripheral smear, solubility testing,
or Hb electrophoreis (or thin-layer isoelectric focusing).  Prenatal DNA testing is used for any and all
patient’s regardless sickle cell type. It is recommended for any patients with
a high risk factor for sickle cell, meaning families with a history of sickle
cell. Chorionic villus (wispy projections of placental tissue) sampling is used
to gather DNA at 8-10 weeks gestation. At 14 to 16 weeks amniotic fluid can
tested.  (site green book)

 Neonate screening is
available in all 50 states in the US, and the Hb electrophoresis is used. Hb
electrophoresis is a blood test used to measure and identify the hemoglobin in
your blood. Cellulose acetate or acid citrate agar, thin-layer isoelectric
focusing, or Hb fractionation by high performance liquid chromatography are the
recommended methods for Hb electrophoresis. (green book)

Older patients with a family history of sickle cell or symptoms of
sickle cell should be tested by peripheral smear, or Hb electrophoresis. A
peripheral smear or blood film is a thin layer of blood smeared on a glass
microscope and stained to closely examine blood cells microscopically. Both tests
will show sickling red blood cells, and in Hb electrophoresis, if sickling is
present, the red blood cell (RBC) count is usually between 2 and 3 million/ul.
The normal levels for men are approximately 4.7 to 6.1 million/ul; and in women
the normal range is 4.2 to 5.4 million/ul. (Green book)

Treatment for sickle cell can include analgesics for pain, IV
hydration for vasoocclusive pain crisis, transfusions, broad-spectrum
antibiotics for infection, immunizations, and folate supplements to help stimulate
RBC production. The most important time for a sickle cell patient is during
their infancy. Early diagnosis and treatment as well as on time and up to date
immunizations are important and have prolonged the life expectancy of sickle
cell patients above 60 years. Although there is a cure which includes stem cell
transplant or bone marrow transplant there is a large risk of rejection and it
still carries a 5 to 10% mortality rate. Antibiotics should be administered
immediately for any patient with a suspected bacterial infection. For pain
analgesics can help manage and should be used liberally. The most common being
opiods, IV morphine (continuous or bolus) is effective and safe. IV hydration
is one treatment that it is unclear if it really helps. Dehydration is the
cause of some pain crisis in these patients since dehydration is proven to
sickle cells but the administration of IV hydrations has never been proven to
limit the length or magnitude of the pain. 
Transfusions are primarily used as a preventive to reduce the chance of
having a severe episode of pain, stroke, organ damage or anemia. This is
communally utilized in patients with Hb levels below 5 million/ul, or if the
patient is currently having an episode including organ damage, priapism, or a
life threatening event. Transfusion are very common for sickle cell patients
when they pregnant. (green book) The final and newest treatment for sickle cell
is Hydroxyurea, which when taken daily is can reduce the frequency of pain
crises and seems to help prevent transfusions by stimulating production of
fetal hemoglobin. Fetal hemoglobin helps prevent formation of sickle cells but
hydroxyurea can increase your risk of infection which sickle cell patients
already suffer from. This drug is only available to individuals older than 5
and no long term studies have been completed, however, it is FDA approved. ( https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/diagnosis-treatment/drc-20355882
)

Sickle Cell for EMS if the patient knows or admits that they have
sickle cell is to treat the signs and symptoms presenting. However, one key to
treat these patients is not assume you can understand there level of pain. Most
of these patients have been in pain their entire lives and have a higher
tolerance to pain then most patients you will encounter. Administer opioid
analgesics for their pain is important, especially if they are in enough pain
to call 911. Follow all protocols per jurisdiction. ( https://emergencymedicinecases.com/emergency-management-of-sickle-cell-disease/
)

 Sickle cell anemia was
first discovered or documented in the United States in 1910; however the
disease itself has been present for at least five thousand years in Africa. Dr.
James B. Herrick was the first doctor to publish a paper in a medical journal
he termed “sickle shaped cells” however he did actually find the disease. The
patient Walter Clement Noel came to Dr. Herrick with complaints of pain
episodes and symptoms of anemia. Dr. Herrick however was a cardiologist and had
little to no interest in Mr. Noel and passed the case on to one of his
residents, Dr. Ernest Irons. Dr. Irons was the first person to view Noel’s
blood under a microscope and noted in the patients chart “having the shape of a
sickle” for the description of the red blood cells. Dr. Herrick found this
extremely interesting and with the hopes of finding a new disease took over Mr.
Noel’s case and published his paper.

Over the following 17 years
more and more cases presented primarily in individuals with African origins. In
1927, Hahn and Gillespie found that in persons with disease, red blood cells
could be oxygen deprived and forced to sickle. The individuals tested didn’t
always have the SS gene or the disease as we know today but the red blood cells
would still sickle leading to the discovery of the sickle trait. In 1949, two
separate articles authored by Col. E. A. Beet, a military doctor, and Dr. James
V. Neel, founder of the Department of Human Genetics at the University of Michigan,
where published stating conclusively that SCD was an inherited disease. Although
Neel generally gets credit for the discovery due to Neel publishing his work in
the American Journal Science which had a more readers then African Medical
Journal that Beet’s published in. Two years later in 1951, Dr. Linus Pauling,
famous for winning the Nobel Prize, and his colleague Dr. Itano, found that the
protein hemoglobin had a different chemical structure in individuals with
sickle cell. Dr. Pauling founded the term “molecular disease” for disorders
that result from abnormal protein structures. (site http://www.sicklecell.howard.edu/ABriefHistoryofSickleCellDisease.htm)