Sickle Cell disease: is a genetic disorder that affects erythrocytes (RBC) causing them to become sickle or crescent shaped.  The effects of this condition due to an abnormality of the hemoglobin molecules found in erythrocytes.  Sickle cell anemia is a serious disease in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."  Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain the protein hemoglobin. This iron-rich protein gives blood its red color and carries oxygen from the lungs to the rest of the body.  Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin S found in the cells.

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Sickle Cell Anemia
Mr. Sagar Kishor Savale
(M. pharm First year Student)
(Department of Pharmaceutics, North Maharashtra University, college of
R.C.Patel Institute of Pharmaceutical Education and Research, Shirpur, 425405,
Dist.Dhule, Maharashtra.)
2015-016
avengersagar16@gmail.com
1. Introduction
 Sickle Cell disease: is a genetic disorder that affects erythrocytes (RBC) causing them
to become sickle or crescent shaped.
 The effects of this condition due to an abnormality of the hemoglobin molecules found
in erythrocytes.
 Sickle cell anemia is a serious disease in which the body makes sickle-shaped red blood
cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."
 Normal red blood cells are disc-shaped and look like doughnuts without holes in the
center. They move easily through your blood vessels. Red blood cells contain the
protein hemoglobin. This iron-rich protein gives blood its red color and carries oxygen
from the lungs to the rest of the body.
 Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized
by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin
S found in the cells.

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2. 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. Incidence of Sickle Cell Anemia
 In the United States approximately 1 in every 375 African Americans are born with
Sickle Cell Disease each year.
 Sickle Cell Anemia is most common among people whose ancestors came from sub-
Saharan Africa; Spanish-speaking regions in the Western Hemisphere (South America,

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the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries
such as Turkey, Greece, and Italy.
 Sickle Cell Anemia occurs more often among people from parts of the world where
Malaria is common.
 Interesting Fact: People who have the sickle cell trait, (gene) are less likely to have
severe forms of Malaria.

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4. What Is Sickle Cell Anemia
 Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape.
Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and
sticky and tend to form clumps and get stuck in the blood vessels. (Other cells also may
play a role in this clumping process.)
 The clumps of sickle cells block blood flow in the blood vessels that lead to the limbs
and organs. Blocked blood vessels can cause pain, serious infections, and organ
damage.
 Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood
has a lower than normal number of red blood cells. This condition also can occur if
your red blood cells don’t have enough hemoglobin.
 Red blood cells are made in the spongy marrow inside the large bones of the body.
Bone marrow is always making new red blood cells to replace old ones. Normal red
blood cells last about 120 days in the bloodstream and then die. They carry oxygen and
remove carbon dioxide (a waste product) from your body.

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5. The origin of Sickle Cell anemia
The change in cell structure arises from a change in the structure of hemoglobin.
A single change in an amino acid causes hemoglobin to aggregate.
6. Sickle Cell Mutation

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7. Genetic Recessive Disorder
 Sickle Cell anemia is a recessive genetic disorder resulting from a mutation on
chromosome 11, which is responsible for the synthesis of B – strand of the hemoglobin
molecule.
 It can be passed from generation to generation but is only majorly presented if the
offspring has both allele for the disorder.
 If one parent has sickle cell trait (HbAS) and the other does not carry the sickle
hemoglobin at all (HbAA) then none of the children will have sickle cell anemia.
 There is a one in two (50%) chance that any given child will get one copy of the HbAS
gene and therefore have the sickle cell trait.
 It is equally likely that any given child will get two HbAA genes and be completely
unaffected.
 If both parents have sickle cell trait (HbAS) there is a one in four (25%) chance that
any given child could be born with sickle cell anemia.
 There is also a one in four chance that any given child could be completely unaffected.
 There is a one in two (50%) chance that any given child will get the sickle cell trait.
 If one parent has sickle cell trait (HbAS) and the other has sickle cell anaemia (HbSS)
there is a one in two (50%) chance that any given child will get sickle cell trait and a
one in two (50%) chance that any given child will get sickle cell anemia.
 No children will be completely unaffected.
 If one parent has sickle cell anaemia (HbSS) and the other is completely unaffected
(HbAA) then all the children will have sickle cell trait.

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 None will have sickle cell anemia.
 The parent who has sickle cell anemia (HbSS) can only pass the sickle hemoglobin
gene to each of their children.
Inheritance of Sickle Cell Anemia
Inheritance of Sickle Cell Anemia

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Inheritance of Sickle Cell Anemia
Inheritance of Sickle Cell Anemia
8. Sickle Cell Trait
Sickle hemoglobin (S) + Normal hemoglobin (A) in RBC
Adequate amount of normal Hb (A) in red blood cells
 RBC remain flexible
 Carrier
Do Not have the symptoms of the sickle cell disorders,
with 2 exceptions:
 Pain when Less Oxygen than usual
 Minute kidney problems

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9. Mechanism
 When sickle hemoglobin (HbS) gives up its oxygen to the tissues, HbS
sticks together
o Forms long rods form inside RBC
o RBC become rigid, inflexible, and sickle-shaped
o Unable to squeeze through small blood vessels, instead blocks
small blood vessels
o Less oxygen to tissues of body
o RBCs containing HbS have a shorter lifespan
o Normally 20 days
o Chronic state of anaemia

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10. Pathophysiology

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Complications
of Sickle Cell
Anemia
Hand-Foot
Syndrome
Splenic Crisis
Acute Chest
Syndrome
Pulmonary
Hypertension
StrokePriapism
Gallstones
Blindness
Organ
Damage

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11. Signs & Symptoms
Most symptoms present within birth until 4 months of age,
1. Shortness of breath
2. Dizziness, Headaches, coldness in the hands and feet
3. Pale skin
4. Jaundice ( a yellowish color of the skin, or white of the eyes.
Some people may have mild symptoms while others have more severe cases of these
symptoms.
Sickle Cell Disease Severe Symptoms
Sickle Cell Crisis: sudden pain throughout the body, this pain affects the bones, lungs,
abdomen, and joints. (This happens when sickle shaped cells block blood flow to the limbs and
organs causing organ and tissue damage.
Hand- Foot Syndrome: blocks the small blood vessels in the hands and feet in children, leads
to pain, swelling, and fever. Swelling in back of the hands and feet that spread to fingers and
toes.

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Splenic Crisis: spleen (found in the abdomen) fails to filter abnormal red blood cells and fight
infection.
Infections
Acute Chest Syndrome
Pulmonary hypertension: shortness of breath and fatigue
 Strokes
 Eye problems
 Gallstones – too much bilirubin (which is a compound broken down by hemoglobin
protein) that leads to stones in the gallbladder.
 Sores found in the legs, usually begin as small, raised, crusted sores on the lower third
of the leg.
 Multiple organ failure

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12. Diagnosis
1. Peripheral smear
2. Sickling test
3. Hb electrophoresis
4. PCR
Types of Cells In Smear
1 Sickle cells
2 Target cell

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Howell jolly body
12.1 Rbc Morphology
1. Normochromic
2. Anisocytosis
3. Poikilocytosis
4. Howell jolly bodies
Target cell and Sickle cell

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1. Sickling Test
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 and This test is used to identify HbS erythrocytes.

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2. Hb Electrophoresis
USe
1. It is a quantitative test.
2. It not only confirms the presence of HbS but also quantifies it
3. Imaging Studies
1. Chest radiography
2. Bone radiography
3. Ultrasonography
4. Bone scans
5. Head CT or MRI
4. Simple Diagnosis
 Can be detected with a simple blood test to detect sickle cell hemoglobin

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 In the United States, all States mandate testing for sickle cell anemia as part of their
newborn screening programs
13. Prevention
 Genetic counseling is advised for two parents who plan to have a child and are carrier
of the sickle cell trait
 1 in 12 African Americans are carriers of this trait
 It can be diagnosed within 10 weeks of pregnancy
 Sickle cell cannot really be prevented, however you can prevent the change in red cell
shape by:Getting enough fluids, Getting enough oxygen, and Quickly treating
infections
14. Treatments
 Effective treatments are available to help relieve the symptoms and complications of
sickle cell anemia, but in most cases there’s no cure.
 Pain medicine: acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs), and
narcotics such as meperidine, morphine, oxycodone, and etc.
 Heating pads
 Hydroxyurea,
 Folic Acid
 Blood Transfusions
 Screening-
1. Hemoglobin Electrophoresis

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 Simple Blood test
 Routine screening in high risk groups
 During pregnancy
 Before anesthesia
 Prenatal Testing
2. Amniocentesis
i. 16 and 18 weeks of the pregnancy
ii. small risk of causing a miscarriage (1 in 100)
iii. Chorionic villus sampling (CVS)
iv. 9th or 10th week of pregnancy
v. very small amount of material from the developing placenta
vi. slightly higher chance of miscarriage

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15. Reference -
http://www.stjude.org/stjude/v/index.jsp?vgnextoid=0f3c061585f70110Vgn
VCM1000001e0215acRCRD
http://www.nhlbi.nih.gov/health/health-topics/topics/sca
/