PRESENTED BY,DARLA .SRINIVASA RAO MSc MLT13-PML-11

SUBMITTED TO, Dr D.CAROL

SICKLE CELL DISEASE

Sickle Cell Anemia or Sickle cell disease

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.

TYPESHemorrhagic anemia: anemia due to

hemorrhage is known as hemorrhagic anemia.Hemolytic anemia: Hemolysis means

destruction of RBCs.(sickle cell anemia)

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.

Sickle cell anemia

Hemolytic anemia Causes: 1) liver failure 2)Renal disorder 3)Burns4) congenital or acquired default in the shape of

RBCs. Sickle Cell Anemia

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.

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.

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.

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.

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.

If both parents have sickle cell trait?

AA-normalAS-sickle cell traitSS-sickle cell Anemia

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).

RBCs stick to blood vessels Stasis

Hypoxia

Pain(vaso-occlusive crisis)

Loss of oxygen

Polymer or rigid rods leading to sickled RBCs

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.

Symptoms…

• Pain• Visual blurring • jaundice • Syncope• Dactylitis• Neck stiffness and head ache• Neurological symptoms• Infection • Leg ulcer• Weakness and pallor

Dactylitis

Leg ulcer

Small remnant of spleen

Dying tissue of leg

DIAGNOSIS

• PERIPHERAL SMEAR • SICKLING TEST• HB ELECTROPHOROSIS• PCR

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.

In microscopic field …

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.

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

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.