Sickle Cell Anemia

Presented by: Harkanwaljit singhRegd.No.16mslsh

g11

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.

• 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

“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 disease2.SS disease

• 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

There are effects at DNA level:

There are effects at protein level:

DISTRIBUTION

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

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 traitSickle cell

anemia

INHERITENCE

Abdominal painBone painBreathlessnessDelayed growth and pubertyFeverJaundiceRapid heart rate Susceptibility to infections.

COMMON SYMPTOMS

Dactylitis

Dying tissue of leg

Leg ulcer

Small remnant of spleen

CONDITIONS

Peripheral smearSickling testHb electrophoresisPCR

DIAGNOSIS

Sickle cellsTarget cell

NormochromicAnisocytosisPoikilocytosisHowell jolly bodies

Sickle cellTarget cell

Howell jolly body

Cells with HbS Cells with HbA

METHOD 2drops of 2% sodium

metabisulphite +

1drop of blood

observed at 15 and 30 minutes.

USEIt is a qualitative test.This test is used to

identify HbS erythrocytes.

Sickle cell

anemianormal Sickle cell

trait

AFSC

USE:It is a quantitative

test.It not only confirms the

presence of HbS but also quantifies it.

Pain managementBlood transfusionDrugsBone marrow transplantationGene Therapy

TREATMENT

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.

Blood TransfusionIn 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.

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.

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.

Patients receiving proper medical care may learn to lead relatively normal lifeAverage life expectancy of patients suffering from is

Male = 42 yearsFemale = 48 years

PROGNOSIS