3. Hb A1- 97% of adult haemoglobin,
consists of 2 alpha & 2 beta chains.
Hb A2- Consists of 2 alpha & 2 delta
chains.
Hb F - 70 – 90% at birth, 25% by 1
month and 5% by 6months of age,
consists of 2 alpha & 2 gamma
chains.
4. 1. Sickle Cell Traits (HbAS) Adequate
amount of normal haemoglobin is
present, they are carriers, do not have
symptoms of sickle cell disorder.
2. Sickle Cell Anemia (HbSS) Most severe form of
disease
3. Haemoglobin C (HbSC)
4. Haemoglobin E (HbSE)
5. Haemoglobin S beta Thalasseamia-This
is a mild form of sickle disorder.
5. Sickle cell anemia is a autosomal recessive
genetic disease that results from the
substitution of Valine from Glutamic acid in
position 6 of beta globin at chromosome 11
leading to production of defective form of
haemoglobin.(Hb S)
Hb S is a structurally defective haemoglobin.
8. Deoxygenation leads to hydrophobic interaction
between adjacent Hb S molecules.
This leads to hydrophobic polymerization of red cell
membrane
The red cell cytosol becomes viscous gell as HBs
aggregates form and become needle with continued
deoxygination distortion of RBC into sickle form cells
Rapid haemolysis
Decreased elasticity of cell wall of RBC
Decreased life span 10 – 20 days. From 120 days
Clogging of RBC in microcirculation
10. SICKLE CELL TrAIT
40% hbS 60% hbA . hbA prEvENTS SICKLINg uNTILL
profouNd hypoxIA
hbf vS hbS
hbf INhIbIT poLyMErISATIoN , No SyMTEMS upTo 6
MoNThS
hErEdITAry pErSISTENT hbf SICKLE CELL dISEASE
LESS SEvErE
hbC vS hbS
IN hbSC hbS 50% + dEhydArTIoN of hbSC INCrEASEd
hbS poLyMErISATIoN CAuSE hbSC dISEASE
11. MCHC
INTrA CELLuLAr dEhydrATIoN INCrErSES MChC fACILITATES SICKLINg
Ph
dECrEASE IN ph INCrEAS dEoxygINATEd hbS AugMENTINg SICKLINg
Transit time of blood cells through micro vascular
bed
ShorT TrANSIT TIME LEAdS To AggrEgATIoN of dEoxygENATEd hbS-
SICKLINg
TrANSIT TIME IS NorMAL IN SpLEEN ANd boNE MArrow So
proMINENTLy AffECTEd
INfLAMEd vESSELS INfLAMEd TISSuE ArE proNE for dECrEASINg
TrANSIT TIME ANd proNE for SICKLINg
15. Obstructed microcirculation leading to ischemic injury to
organ
1. Avascular necrosis
2. Acute chest syndrome
3. Acquired asplenia
4. Splenic sequestration
5. Hand foot syndrome
6. Papillary necrosis in kidneys
7. Hyposthenuria and enuresis
8. Cerebral infarction
9. Skin ulceration
10. Retinal hemorrhage and retinopathy
11. Priaprism
16.
17. Acute splenic sequestration, pooling of blood
in the engorged spleen
Aplastic crisis – Seen in patients with parovrus
B-19 infection or folic acid deficiency leading to
decreased marrow erythropoiesis
Anemia
Pigmented gallstone
Jaundice
Delayed growth
22. Infectious crisis is due to functional asplenia
and decreased level of serum immunoglobulin
M (IGM) increasing susceptibility to infections.
Haemophilius influenzae, streptococcus
pneumoniae, mycoplasma pneumoniae, salmonella
typhimurium, staphylococcus aureus, and
escherichia coli are the common causative
microbes.
Common infections include pneumonia,
bronchitis, pyelonephritis, cystitis,
osteomyelitis, meningitis, and sepsis
23. CVS-Anemia and vasooclusive phenomena causing
myocardial ischemia and myocardial infarction, repeated
blood transfusion leading to restrictive cardiomyopathy.
Pulmonary-Acute chest syndrome
CNS-25% patient have TIA, strokes, cerebral hemorrhage
Hepato biliary system-Gall stone recurrent abdominal pain,
autosplenectomy
Urinary system- Haematuria, hyposthenurea and renal
failure
Ocular complication- Proliferative retinopathy, vitreous
hemorrhage and retinal detachment
Orthopedic – Hand foot syndrome, avascular necrosis of
hip, osteomyelitis
24.
25.
26.
27. 1. Young infants have recurrent edema of the dorsum of
hands and feet.
2. Infarction of cortex of long bones lead to prominent signs of
local inflammation.
3. Repeated infarction in the joints of large and small bones
lead to abnormal angled digits, malformed and frozen joints,
particularly at the knee and ankle.
4. Chronic leg ulcer is common in adolescent patients.
5. Abdominal examination may reveal splenomegaly if
sequestration is occurring otherwise the spleen is small in
size due to autoinfarction
6. Evidence of cholilethiasis is seen in patients as young as 3
years old.
7. By mid childhood most patients are underweight as
compared to children of their same age and height.
28.
29. 1. There is a higher rate of spontaneous abortion. A
miscarriage may happen up to 25% of the time.
1. There is ahigher rate of babies not surviving to
birth or being stillborn. 8-10% .
1. Birth weight is lower than average.
2. Infection is more common in women with sickle
celldisease during pregnancy, especially
bladder infection.
3. Increased chance of PIH and preeclampsia
4. Increased incidence of PPH.
30. Medical Complications
1. pain episodes 9. kidney damage and
loss of body water in urine
2. strokes
10. painful erections in men
3. increased infections
(priapism)
4. leg ulcers
11. blood blockage in the spleen
5. bone damage or liver (sequestration)
6. yellow eyes or 12. eye damage
jaundice
13. low red blood cell counts
7. early gallstones (anemia)
8. lung blockage 14. delayed growth
31. Hb-6-8gm%
Reticulocytes high
Peripheral smear may show sickle cells
Features of hyposplenism :Target cells and Howell-
Jolley bodies seen
Sickle solubility test
Sickling test with reducing agent Sodium
metabisulphide
Hb electrophoresis
High performance liquid chromatography(HPCL)
WBC may be elevated
Bilirubin may be elevated
Urinarary cast may be seen or trace of RBC in urine
Howell-Jolly bodies
37. Blood transfusion is currently the most
effective and proven treatment for severe
anemia of SCD, it significantly reduces crisis.
Blood transfusion reduces pain by increasing
the number of functioning RBC and by
increasing the oxygen caring capacity of blood
38. Bone marrow transplant is the closest thing
possible to the cure of SCA.
Helps in production of healthy RBC from
transplanted bone marrow
The success rate is 90 – 95%
39. Gene therapy is a relatively new idea of
inserting genes into the cells of an individual in
order to treat hereditary disease such as SCA,
in which a defective mutants alleles is replaced
with a functional one.
Gene therapy would be the best cure for SCA
in future, as of now it is on it’s experimental
stage.
40. Dialysis or kidney transplant for renal failure.
Cholecystectomy for pigmented cholelitheasis.
Hip replacement for avascular necrosis.
Surgery for eye problem.
Irrigation surgery for Priapism.
Wound care for leg ulcer.