Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta-globin gene of hemoglobin. It results in rigid, sickle-shaped red blood cells that can block blood vessels. The disease was first described in the early 1900s and is most common among those with ancestry from sub-Saharan Africa, South America, Central America and India. Treatment focuses on managing pain, preventing infections, and in severe cases, blood transfusions or stem cell transplants. With proper medical care, patients can live into their 40s or 50s on average.

1. Sickle Cell Anemia
Presented by: Harkanwaljit singh
Regd.No.16mslshg11

2. James B. Herrick
HISTORY
•The African medical literature reported this condition in
the 1870’s where it was locally known as ‘ogbanjes’.
• The sickle cells were first explained in 1904 by a
Chicago cardiologist, James B. Herrick.
• The disease was named “sickle cell anemia” by Vernon
Mason in 1922.
• The association of this disease with alteration of
hemoglobin was published in 1949 by Linus Pauling
and coworkers.
• Origin of mutation occurred between 3,000 to 6,000
generations ago, approximately 70 to 150,000 years
before.

3. • It is a group of disorders that
affects hemoglobin.
• People with this disease contain
an abnormal hemoglobin
called HbS in their RBCs.
• It is an inherited blood disorder,
an autosomal recessive
disease.
• Sickle cell anemia.
• Sickle hemoglobin C disease.
• Sickle beta plus thalassaemia.
• Sickle beta zero thalassaemia

4. “It is a specific type of sickle cell disease in which
there is homozygosity for the mutation that causes
HbS”;
(HbA HbA)............................ Normal
(HbA HbS)............................. Carrier
(HbS HbS).............................. Sickle cell
1.HbSS disease
2.SS disease

5. • Produced due to the point mutation in hemoglobin beta
gene (HBB gene) found at chromosome number 11.
• It results from the substitution of valine for glutamic acid
at position 6 of beta-globin gene.
Hbs

6. There are effects at DNA level:

7. There are effects at protein level:

8. DISTRIBUTION

9. It is an inherited condition in which both HbA and HbS
are produced.
HbA=60% > HbS=40%
Such individuals are asymptomatic.
They act as carriers and can transmit the disease to
their offspring's.
AS
SICKLE CELL TRAIT

10. If one parent has sickle
cell anemia and other is
normal, all children will
have sickle cell trait.
If one parent has sickle
cell anemia and other
has sickle cell trait there
is 50% chance of either
with each pregnancy.
If both parents have
sickle cell trait.
Normal
Sickle
cell trait
Sickle cell
anemia
INHERITENCE

11. Abdominal pain
Bone pain
Breathlessness
Delayed growth and
puberty
Fever
Jaundice
Rapid heart rate
Susceptibility to
infections.
COMMON SYMPTOMS

12. Dactylitis
Dying tissue of leg
Leg ulcer
Small remnant of
spleen
CONDITIONS

13.  Peripheral smear
 Sickling test
 Hb electrophoresis
 PCR
DIAGNOSIS

14. Sickle cells
Target cell
Normochromic
Anisocytosis
Poikilocytosis
Howell jolly bodies
Sickle cell
Target cell
Howell
jolly body

15. Cells with HbS Cells with HbA
METHOD
 2drops of 2% sodium
metabisulphite
+
 1drop of blood
observed at 15 and 30
minutes.
USE
 It is a qualitative test.
 This test is used to identify
HbS erythrocytes.

16. Sickle
cell
anemia
normal Sickle cell
trait
A
F
S
C
USE:
 It is a quantitative test.
 It not only confirms the
presence of HbS but also
quantifies it.

17. Pain management
Blood transfusion
Drugs
Bone marrow
transplantation
Gene Therapy
TREATMENT

18. Medication
 Antibiotics. Children with sickle cell anemia may begin taking the antibiotic
penicillin when they're about 2 months of age and continue taking it until
they're at least 5 years old. Doing so helps prevent infections, such as
pneumonia, which can be life-threatening to an infant or child with sickle
cell anemia.
 Pain-relieving medications. To relieve pain during a sickle crisis.
 Hydroxyurea (Droxia, Hydrea). When taken daily, hydroxyurea
reduces the frequency of painful crises and may reduce the need for
blood transfusions.
 Vaccinations to prevent infections - Childhood vaccinations are
important for preventing disease in all childrens.

19. Blood Transfusion
 In a red blood cell transfusion, red blood cells are
removed from a supply of donated blood. These
donated cells are then given intravenously to a person
with sickle cell anemia.
 Blood transfusions increase the number of normal red
blood cells in circulation, helping to relieve anemia.

20. Stem Cell Transplant/Bone Marrow
Transplant
 A stem cell transplant, also called a bone marrow
transplant, involves replacing bone marrow affected by
sickle cell anemia with healthy bone marrow from a
donor.

21. Experimental treatments
 Gene therapy. Because sickle cell anemia is caused by a defective gene,
researchers are exploring whether inserting a normal gene into the bone marrow
of people with sickle cell anemia will result in the production of normal
hemoglobin. No human trials using genes specifically for sickle cell have yet been
done.
 Nitric oxide. People with sickle cell anemia have low levels of nitric oxide in their
blood. Nitric oxide is a gas that helps keep blood vessels open and reduces the
stickiness of red blood cells. Treating with nitric oxide may prevent clumping of
vessels .
 Drugs to boost fetal hemoglobin production. Researchers are studying
various drugs to devise a way to boost the production of fetal hemoglobin. This is
a type of hemoglobin that stops sickle cells from forming.
 Statins. These medications, which are normally used to lower cholesterol, may
also help reduce inflammation. In sickle cell anemia, statins may help blood flow
better through blood vessels.

22. Patients receiving
proper medical care
may learn to lead
relatively normal life
Average life expectancy
of patients suffering
from is
Male = 42 years
Female = 48 years
PROGNOSIS