Download - 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.