Professional Documents
Culture Documents
Sickle Cell Anemia
Sickle Cell Anemia
disease
HUDA ASIF
CIMS MULTAN
Case
Pallor
swelling of body, 3 MONTHS
Fever on and off
History of presenting
illness
At the age of 6 months, patient
develop low grade fever on, off,
intermittent, relieved by antipyretics
with pallor, irritability and abdominal
swelling. No history of bleeding from
any other site of body. No history of
petechial hemorrhages, and blood
transfusion.
Past history
Pallor +
Jaundice
Spots, ecchymosis -VE
LNs
Liver
SPLEEN
Edge of spleen palpable.
Laboratory investigations
Anisocytosis+++
Hyp++
Macrocytosis+
Target cells+
Poikilocytosis++
Microcytosis++
Polychromasia+
Pencil cells OCC
Sickle cells -
Lipid profile
LFTs
RFTs
Urine RE
PCR
Shows homozygous Hb-S mutation
Serum Ferritin 44.5ng/ml
Hb Studies
Hb electrophoresis
Bands of Hbs, HbF, HbA2
Hb F quantitation 25.5%
Hb A2 quantitation 2%
Hb S 72.5%
Sickling/ sickle solubility test
Family screening advised – positive
Genetic counseling
Parents test
Retics 0.3%
Diamorphia+ WBC 6.1
Micro + Hb 13.6 Hb
Aniso + electrophores
MCV 69.1 is
Poik +
Pit 304 HbA 67.5
Target cell few
P 57 HbS 29.2
Elliptocytes few
Sickle cells-
L 27 HbA2 3.3
ocassional M 07
Tear drops few
Mother (sickle cell trait)
BLOOD COUNTS
PERIPHERAL BLOOD FILM
SICKLING TEST
HEMOGLOBIN SOLUBILITY TEST
HEMOGLOBIN ELECTROPHORESIS
HPLC
Solubility test
Screening test for newborn
DNA ANALYSIS
Types of cells in
RBC MORPHOLOGY smear
Normochromic Sickle cells
Anisocytosis Target cells
Poikilocytosis
Howell jolly bodies
Sickling test
Method:
1) A sample of venous blood or capillary blood may be collected
for this test. (*Venous blood from the arm.*Capillary blood from
the finger tips or ear lobes and in infants from the heel of the
foot.)
2) Mixing blood with the reducing agent, sodium metabisulphite,
will induce sickling in susceptible cells.
3) the results can be viewed under a microscope after 20
minutes.
Normal RBC Sickled RBC
*Positive sickling test associated with a normal haemoglobin is
likely to indicate a patient with sickle cell trait.
Positive Test HbS
Negative Test HbA
This test is a qualitative test. It is simple and quick, used to
identify the presence of HbS.
Sickle Solubility Test (SST)
Method:
A rapid and inexpensive technique used to screen for the
presence of sickling hemoglobins, can be used at home.
A positive result must be confirmed by another method
(HPLC or electrophoresis) to confirm the presence of Hb S
and to distinguish Hb AS (carrier state) from Hb SS (sickle
cell disease).
•Disadvantage: Other insoluble hemoglobins, such as Hb
C-Harlem, will also give a positive result.
1) Erythrocytes are lysed by saponin.
Depend on phosphate solubility
2) The released hemoglobin is reduced by sodium
hydrosulfite in a phosphate buffer.
3) Reduced HbS is characterized by its very low solubility
and the formation of neumatic liquid crystals (tactoids).
The resulting tactoids of HbS causes the solution to remain
turbid.
The presence of HbA under these same conditions results in
a clear red solution.
Hemoglobin Electrophoresis test
Aplastic crisis
• Paravirus B19. Divides in RBCs precursors and destroys
them
Stops erythropoiesis for two or three days. Causes
reticulocytopenia
Disappears within one week with management and blood
transfusions
Hemolytic crisis
• Common in patients with G6PD deficiency
Trigerred by malaria, septicemia, drugs
Factors affecting severity
Extent of oxygen loss
Acidity of the environment
Concentration of HbS in RBC
Amount of HbF in RBC
Infections
Low oxygen tension
Concomitant medical conditions (e.g., sarcoidosis, diabetes mellitus, herpes)
Dehydration*
Extreme physical exercise
Physical or psychologic stress
Alcohol
Pregnancy
Cold weather
complications
OCCULAR*Retinopathy Blindness.
RENAL* Sickle cell nephropathy Chronic renal
failure.
**In pregnancy spontaneous abortion.
ORTHOPEDIC*Aseptic bone necrosis.
GENITOURINARY*Priapism Damge to the Penis
and Impotence.
management
• Blood transfusions:
– Acute chest crisis
– Decreases the risk for strokes
– Defrasirox: iron chelator
• Folic acid daily intake
• Penicillin
• Malaria chemoprophylaxis
• Hydroxyurea.
– Reactivates fetal Hb production
– Decreases severity of attacks
– Increases life span
– More effective with Erythropoietin.
• Bone marrow transplant during childhood.
• 5-HMF. This natural compound binds to red blood cells and increases
their oxygen. This helps prevent the red blood cells from sickling.
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.
Sickle cell gene and
malaria