Sickle Cell Anemia

PRESENTED BY:

HAFSA MARYAM

4TH YEAR

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.

James B. Herrick

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.

1. Sickle cell anemia.2. Sickle hemoglobin

C disease.3. Sickle beta plus

thalassaemia.4. Sickle beta zero

thalassaemia.

“It is a specific type of sickle cell disease in which there is homozygosity for the mutation that causes HbS”.

1.HbSS disease

2.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.

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

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

Loss of oxygen.

Polymers or rigid rods leading to sickled RBCs

RBCs Stick to blood vessels

Stasis

Hypoxia

Pain ( vaso-occlusive crisis)

Beta chains bind with other beta

chains

polymerization

VASO-OCCLUSIVE CRISIS

10-20 days

People with sickle cell gene who continue to carry some HbF are better protected from severe form of the disease.

It is able to block the sickling action of the RBCs so infants who have inherited the disease do not develop symptoms.

Vaso-occlusive crisis.Aplastic crisisSplenic sequestration crisis.Hemolytic crisis

PainAutosplenectomyAcute chest syndrome

FeverChest painHard breathingPulmonary infiltrateon chest x-ray.

PallorTachycardiafatigue

This crisis is

triggered by

parvovirus B19

infection.

Abdominal painRestlessnessFeverDrowsinessCold extremitiesLiver and spleen increased in size.

It is triggered by: Malaria Septicemia Drugs Glucose-6 phosphate deficiency

Extent of oxygen lossAcidity of the environmentConcentration of HbS in RBCAmount of HbF in RBC

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

Sickle pulmonary diseaseCholelithiasisOphthalmologic complicationsTransfusion related ulcersLeg ulcersAvascular osteonecrosis e.g., of hip bone.

Priapism Infarction of penisErectile dysfunctionosteomyelitisAcute papillary necrosis of kidneyLoss of body water in urineAnemiaDelayed growthPsychological problem

Splenic sequestration syndromeParvovirus B 19 infectionAcute chest syndromeOver-whelming post auto-splenectomy infections.

StrokeDecreased immune reactionsIntrauterine growth retardationAbortionCongestive cardiac failureChronic renal failure

PainVisual blurring

Neurological symptoms

Syncope

Infection

Neck stiffness

and headache

Weakness and pallor

Family Hx and Hx of

transfusion

Dactylitis Leg ulcers

Jaundice

Dactylitis

Dying tissue of leg

Leg ulcer

Small remnant of spleen

Peripheral smearSickling testHb electrophoresisPCR

Sickle cellsTarget cell

NormochromicAnisocytosisPoikilocytosisHowell jolly bodies

Sickle cell

Target 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.

USE It is a qualitative test. This test is used to

identify HbS erythrocytes.

Sickle cell

anemia

normal Sickle cell trait

AFSC

USE: It is a quantitative

test. It not only confirms

the presence of HbS but also quantifies it.

Chest radiographyBone radiographyUltrasonographyBone scansHead CT or MRI

PneumoniaOr

Acute chest syndrome

Avascular necrosis of hip boneMarrow expansion

Pain managementBlood transfusionDrugsBone marrow transplantation

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

Male = 42 yearsFemale = 48 years

Genetic screeningTesting for sickle cells in babies.

Chronic vill samplingAmniotic fluid samplingFetal blood samplin

Daily penicillin for newborn babies with the disease.