sickle cell disease

1. PRESENTED BY,
DARLA .SRINIVASA RAO MSc MLT
13-PML-11
SUBMITTED TO,
Dr D.CAROL

2. Sickle Cell Anemia or Sickle cell disease

3. ANEMIA
Anemia means deficiency of hemoglobin in the
blood, which can be caused by either too few
red cells or too little hemoglobin in the cells.
TYPES
Hemorrhagic anemia: anemia due to
hemorrhage is known as hemorrhagic anemia.
Hemolytic anemia: Hemolysis means
destruction of RBCs.(sickle cell anemia)

4. Types ,,,,,
Nutritional deficiency anemia : nutritive substances
such as iron, protiens and vitamins like C,B12,and
folic acid are necessary for erythropoisis .the
deficiency of these substances leads to
nutritional deficiency anemia.
Aplastic anemia: Aplastic anemia is due to the
disorder of red bone marrow.
Anemia of chronic disease: It is characterized by
short life span of red cells caused by disturbance
in iron metabolism.

5. Sickle cell anemia
Hemolytic anemia
Causes: 1) liver failure
2)Renal disorder
3)Burns
4) congenital or acquired default in the shape of
RBCs.
Sickle Cell Anemia

6. Sickle Cell Disease
What is sickle cell disease?
• Sickle cell disease (SCD) is a group of inherited red
blood cell disorder.
• Healthy red blood cells are round and they move
through small blood vessels carrying oxygen to all
parts of the body.
• In sickle cell disease ,the red blood cells become hard
and sticky and look like a C-shaped farm tool called a
sickle.

7. Continue,,,,,,,
• Sickle cells die early , which causes a constant
shortage of red blood cells.
• Sickle cells can get stuck in small blood vessels
and block the flow of blood and oxygen to
organs in the body . these blokages cause
repeated episodes of severe pain , organ
damage, serious infections , even stroke.

8. Who is affected by SCD….
• It is estimated that sickle
cell disease affects 90,000
-100,000 people in the
United states , mainly
Blacks or African –
Americans.
• These disease occurs
among about 1 of every
500 Black or African –
Americans and among
about 1 out of every
36,000 Hispanic American
births.

9. Pathology ..
• Caused by mutation in
beta globin gene –at
sixth position , glutamic
acid is replaced by
valine.
• Red blood cells typically
live 90-120 days , but
sickle cells only survive
10-20 days.

10. Types of sickle cell disease
1. Sickle cell anemia:
Homozygous state for HbS (βS- βS)
2. Sickle cell trait :
Heterozygous carrier state for HbS (βS -β)
 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.

11. If both parents have sickle cell trait?
AA-normal
AS-sickle cell
trait
SS-sickle cell
Anemia

12. 3. Sickle cell – β thalassemia :
Double heterozygote in which sickle cell gene
is inherited from one parent and beta
thalssemia gene from other parent .
gene type (βsβo-βsβ+)
4. Combination of Hbs with other abnormal
hemoglobin (HbSD, HbSC, HbSO(arab
disease),HbSE).

13. Loss of oxygen
Polymer or rigid rods leading to sickled RBCs
RBCs stick to blood vessels
Stasis
Hypoxia
Pain(vaso-occlusive crisis)

14. Symptoms
• No symptoms infants????
It is able to block the sickling action of the
RBCs so infants who have inherited the
disease do not develop symptoms.
people with sickle cell gene who continue to
carry some HbF are better protected from
severe from of the disease.

15. Symptoms…
• Pain
• Visual blurring
• jaundice
• Syncope
• Dactylitis
• Neck stiffness and head ache
• Neurological symptoms
• Infection
• Leg ulcer
• Weakness and pallor
Dactylit
is
Leg
ulcer
Small remnant
of
spleen
Dying tissue of
leg

16. DIAGNOSIS
• PERIPHERAL SMEAR
• SICKLING TEST
• HB ELECTROPHOROSIS
• PCR

17. SICKLING TEST
Principle :
Sodium meta bisulphite reduces the oxygen tension
inducing the typical sickle – shape of red blood
cells.
Sample:
Fresh blood in any anticoagulant.
Method:
mix 1 drop of blood with 1 drop of 2% sodium
meta bisulphate solution on a microscope slide.

18. In microscopic field …

19. TREATMENT
• There is no single best treatment for all people
with Sickle cell disease.
• Treatment options are different for each
person depending on the symptoms.
• Treatments can include receiving blood
transfusions, maintaining a high fluid intake
(drinking 8 to 10 glasses of water each day),
receiving IV (intravenous) therapy (fluids given
into a vein) and medications to help with pain.

20. Main treatment methods
There is no known cure for sickle cell anemia.
The four main treatment options are:
• Blood Transfusions
• Drug Treatment
• Blood and Marrow Stem Cell Transplantation
• Gene Therapy

21. Prevention
 Genetic screening
 Testing for sickle cells in babies.
 Chronic vill sampling
 Amniotic fluid sampling
 Fetal blood samplin
 Daily penicillin for newborn babies with the
disease.