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Sickle-Cell-Anemia-Beyond-the-Basics.pdf
1. Sickle Cell Anemia;
Beyond the Basics
Sickle cell anemia is a genetic blood disorder that
affects millions of people worldwide. In this
presentation, we will explore the intricacies of this
disease and its importance in our society.
Pranavi Uppuluri
2. What is Sickle Cell Anemia?
NORMAL BLOOD CELLS
Red blood cells are normally
disc-shaped and flexible,
allowing them to easily travel
through blood vessels and
deliver oxygen to the body.
SICKLE-SHAPED BLOOD CELLS
Sickle cells are misshaped and
rigid, causing them to get
stuck in blood vessels and
block the flow of oxygen-rich
blood.
BLOOD SMEAR TEST
A blood smear test can detect
sickle cells in the blood and
confirm a diagnosis of sickle
cell anemia.
Pranavi Uppuluri
3. How is it Inherited?
1 AUTOSOMAL RECESSIVE GENES
Sickle cell anemia is
caused by inheriting two
defective genes, one from
each parent. A person who
inherits only one gene is
a carrier but does not
have the disease.
2
HIGHER PREVALENCE IN
CERTAIN POPULATIONS
Sickle cell anemia is more
common in people of
African descent, as well
as certain populations
from the Middle East,
Mediterranean, and South
Asia.
3 GENETIC COUNSELING
Genetic counseling is recommended for couples who have a
family history of sickle cell anemia or are carriers of the
disease to understand their risks of passing it on to their
children.
Pranavi Uppuluri
4. Prevalence of Sickle Cell Anemia
WORLDWIDE
Sickle cell anemia affects millions of people
worldwide, with the highest rates in Africa,
India, Saudi Arabia, and Central and South
America.
UNITED STATES
Approximately 100,000 Americans have sickle
cell anemia, with the majority being African
Americans. It is estimated that one in every
365 African American babies is born with
sickle cell anemia.
Pranavi Uppuluri
5. Importance of Early
Detection and
Management
Early detection and management of sickle cell anemia can
greatly improve a patient’s quality of life and increase
their lifespan. Newborn screening tests can identify the
disease in infancy, allowing for early treatment and
intervention. Regular checkups and treatment can help
prevent complications and improve the patient’s overall
well-being.
Pranavi Uppuluri
6. Symptoms
1
EARLY CHILDHOOD
In early childhood, symptoms may include recurring
episodes of pain and swelling in the hands and feet,
infections, and anemia. Children may also be at risk
of stroke.
2
ADOLESCENCE AND ADULTHOOD
In adolescence and adulthood, the symptoms may
become more severe and frequent, leading to chronic
pain, organ damage, and a shorter lifespan. Patients
may require blood transfusions or even bone marrow
transplants.
3
LIFESTYLE MANAGEMENT
Patients can manage their symptoms and improve their
quality of life by staying hydrated, avoiding
extreme temperatures and high altitudes, and getting
regular medical checkups.
Pranavi Uppuluri
7. Complications of SCD
Leg ulcer Stroke Vison damage Delayed puberty
Acute chest
syndrome
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9. Treatment Options
HYDROXYUREA
Hydroxyurea is a medication that
can reduce the number of sickle
cells in the blood, helping to
prevent painful episodes and other
complications.
BLOOD TRANSFUSIONS
Blood transfusions can help
increase the number of healthy red
blood cells in the body to improve
oxygen flow and prevent organ
damage.
BONE MARROW TRANSPLANTS
Bone marrow transplants may be an
option for younger patients with
severe sickle cell anemia who have
a compatible donor.
Pranavi Uppuluri
10. Drink plenty of
water
Avoid exposure to
high altitude which
have low oxygen
levels
Excersice regularly
Lifestyle modifications for
prevention of SCD
Pranavi Uppuluri
11. Conclusion
There is no universal cure for Sickle cell anemia as it
is a genetic disorder but with proper management and
support, patients can live fulfilling lives. This year
2023, the World Sickle Disease Day theme is “Building
and strengthening Global Sickle Cell Communities,
Formalizing New-born Screening and Knowing your Sickle
Cell Disease Status”, a call to recognize the first step
(understanding the genotype in infants and adults) in
fighting sickle cell disease..
Pranavi Uppuluri