Sickle Cell Anemia: Hba Α Β Hba …….. Α Δ Hb F ……… Α, Γ

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Sickle cell anemia

Hb A 2, 2
Hb A2 .. 2, 2
Hb F 2, 2
Hb variants are more than 400. Most has no
significance.
The commonest hemoglobinpathies are chain
variants (S, C, and D .etc)
Abnormal Hb occurs due to:
o Point mutation in a single amino acid e.g. HbS
(90%).
o Point mutation codon.
o Fusion mutation resulting in hybrid globin
chain (Hb Lepore).
HbS: (2, 2)
The most frequent hemoglobinpathies. Here the chain undergoes structural changes which are
inherited and this is the result of replacement of
Glutamic acid by Valin, in position # 6 in the
polypeptide chain in chromosome # 11.
This will result in sensitivity of this Hb to hypoxia.
Distribution of HbS genes:

1. Equatorial Africa: e.g. Nigeria 30% of
population has sickle cell trait.
2. Mediterranean.
3. Middle East.
4. India.
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The gene frequency is highest in regions hyper

endemic in malaria.
The gene has persisted because heterozygotes gain
slight protection against falciparum malaria. (This is
an example of polymorphism).
Detection of Hb s gene:
1. Sickling test: incubate with reducing agent (NaMetabisulphate) but this doesnt distinguish
between AS, SS, HbS sickle cell Thalasemia.
2. Solubility test: specific for HbS.
3. Hb-Electrophoresis: S moves same as D
confirmed by solubility test.
4. Isoelectric focusing of globin chains may be used
to detect in week.
5. Detection of DNA mutation.
Sickle cell disease (SCD):

It consists of:
1. Sickle cell anemia (SS). Both parents must be
carrier of gene.
If both are carrier 25% chance to get SS diseased
child, 50% carrier, 25% normal.
If both are diseased (SS) all their children are
diseased.
If only one parent is diseased so all their children
will be carrier.
If one is only carrier so 50% chance to get
carrier.
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2. Sickle cell disease.

In double heterozygous e.g.
# sickle Thalasemia.
# sickle + Thalasemia.
Pathogenesis:
Deoxygenated HbS is 10 times less soluble than
deoxygenated HbA, as a result deoxygenated HbS
crystallizes inside the RBCs forming cylindrical
polymers arranged around a central axis, and this
causes the deoxygenated RBCs to become shaped like
crescent (sickle).
Sickling within intact RBC and in free solution
affected by non- S Hb.
* HbA & HbF dont precipitate in polymerization.
* HbF inhibits polymerization of HbS so those cells
that are relatively rich in HbF are protected from
sickling.
* HbC, D &O precipitate in polymerization.
Precipitating factors:
1. Unknown (mostly).
2. Hypoxia.
3. Dehydration.
4. Exposure to:
a- cold reflex vasospasm.
b- Hot wither .. Dehydration.
5. Psychological stress.
6. Acidosis.
7. Infection.
8. Physical exercise (hypoxia).
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Clinical features:
Signs and symptoms dont appear until after the
sixth month of life at which time most of HbF has
been replaced by HbS.
a) Among the constitutional manifestation of sickle
cell anemia:
Delay of growth and development
and general failer to thrive.
Tendency to develop serious infection
especially due to encapsulated
organisms. (E.g. pneumonia, H.
influenza.) Due to impairment of
splenic function which prevent
effective clearance of circulating
bacteria.
b) Anemia:
Symptoms of anemia:
1. Easy fatigability.
2. Headache.
3. Dizziness.
4. Palpitation.
5. Blurring of vision.
6. Nocturia.
7. Pallor
SS homozygotes have a sever hemolytic anemia
with Hct between 18- 30%
i.e. Hct.
Plasma Hb is moderate.
There is in life span of RBC (mean 10 15 days)
normally half life is 120 days .
Hemolysis is mainly extra vascular.
Plasma haptoglobin is generally low or absent.
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Most pts have mild jaundice .. 2- 4 mg/dl of

indirect bilirubin i.e. increased.
**Evidence of hemolysis:
o Serum bilirubin ( unconjugated)
o Urine urobilinogen.
o Faecal stercobilinogen.
o Serum haptoglobin.
o Reticulocytosis.
o Bone marrow erythroid hyperplasia.
o LDH, K.
The anemia becomes increasingly sever if
erythropiosis is suppressed as in A plastic crisis
which may be due to:
a) Folic acid deficiency.
b) Infection by virus especially Parvo
viruses B19.
* A plastic crisis differs from above by of
Reticulocytes count.
c) Symptoms due to vascular occlusion:

This occurs by the sickled red blood cells as they lose
their deformability (ability to change their shape)
which increases the blood viscosity and then occludes
the flow in the microcirculation.
Symptoms are divided to:
I- symptoms that are directly due to vascular

occlusion:1. Painful crisis.
2. Bone.
Fat embolism.
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Bone marrow ischemia.

Bone marrow infarct.
3. Dactylitis (hand and foot syndrome):
Painful dactylitis due to infarction of the small
bones of hand and foot leads to digits of
varying length seen in children. It is not
common here.
4. Aseptic necrosis of bones:
e.g. femoral, humeral heads.
5. Renal medullary infarction:
- Hyposthanuria (inability to concentrate urine
with specific gravity).
Papillary necrosis.
6. Priapism: spontaneous painful erection of the
penis.
7. Stroke: (vascular occlusion in the brain)
leads to - seizures.
Coma.
8. Prolifrative retinopathy: due to ischemia. Not
common.
9. Leg ulcers: due to poor blood flow.
II) Symptoms indirectly due to vasoocclusion:

Infection (function of asplenia).
III) Uncertain:
o Miscarriage.
o Renal failure ( prevalence of
membranous glomerulonephritis).
o Sudden death.
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**vaso occlusive crisis:

Which either 1) Micro infarct. Painful crisis.
2) Macro infarct. Organ damage.
i) Micro infarct:
The morbidity and mortality of SCD are due to
primarily recurrent vaso occlusive phenomena
(painful crisis).
This attack appear suddenly involving the:
- Abdomen.
Chest.
Joints.
Bone. Etc...
1/3 preceded by infections.
The frequency of painful crisis is variable.
Precipitating factors are mentioned earlier.
# Differential diagnosis of painful crisis effecting
abdomen:
a) Acute abdomen.
b) Biliary colic.
c) Appendicitis.
d) Perforated viscous.
N.B: pt with sickling has normal bowel sounds and no
rebound tenderness.
# Differential diagnosis of chest pain:
a) Acute pleuritic chest pain.
b) Pneuminitis.
c) Pulmonary infarction.
Diagnosed by culture & gram stain and others.
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# Differential diagnosis of pain localized in

extremities:
a) Osteomyelitis.
b) Acute arthritis eg Gout , R.A
c) Septic arthritis.
Examine joint fluid:
o No crystals.
o No bacteria.
o WBC 100- 1000. Mononuclear mostly.
o Clear fluid.
ii) Macro infarct:

Will leads to chronic organ damage.
** Effects
of sickle cell disease on body

organs and systems:
1) Heart:
SS homozygotes frequently develop CHF.
CHF could be due to RHF (right sided heart failure)
which is due to pulmonary embolism that happen in
SCD.
Or CHF is high out put failure that happens in SCD.
Chronic sever anemia and hypoxemia impose a
sustained burden on the heart.
Most pts have ESM (ejection systolic murmur) due to
hyper dynamic circulation.
They rarely develop MI.
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2) Lung:
1. Acute chest syndrome: it is due to vaso
occlusion of pulmonary vessels (intra arteriolar
ones)
a- Fever.
b- Infiltrate ( WBC)
c- Chest pain & tachycardia.
Differential diagnosis includes:
- pneumonia.
- Pulmonary infarction.
- Acute pleuritic chest pain.
That is why empirical antibiotic is given.
*Note: Resting arterial po2 usually due to
intrapulmonary arterial venous shunting.
2. Pulmonary hypertension.
3. Pulmonary infraction.
3) CNS:
Stroke due to vaso occlusion. Hemiplegia more
frequently than convulsion, coma or visual
disturbance.
Usually pt makes complete recovery.
4) Eye:
o Retinal infarction blindness .
Rare especially here.
o Peripheral vessel disease.
o Arteriovenous anomalies.
o Vitreous hemorrhage.
o Retinitis proliferans.
o Retinal detachment.
o Papilledema.
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o Note: ocular complications are more in SC &

sickle Thalasemia.
o They are uncommon in SS.
o The most important is:
infarction.
Prolifrative changes.
Both can lead to retinal detachment.
o Usually Prolifrative changes are self limited.
But routine ophthalmologic evaluation is
advised.
5) Hepatobiliary:
1. Jaundice.
Due to chronic hemolysis. Usually mild 2- 4
mg/dl.
2. Sickle hepatopathy.
Due to intrahepatic sickling which will cause
the following:
- infarction.
Cholestasis.
Deterioration of liver function.
All will cause serum bilirubin and
deepening of jaundice.
3. Hepatitis:
HCV, HBV
Due to blood transfusion.
4. Gall stone.
Pigmented stones develop in > 50% of pt and if
they lead to common bile duct obstruction
the bilirubin will up to high level and
jaundice deepens.
It is difficult to differentiate between
cholecystitis from acute abdominal crisis.
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Do you think that you will find large liver in

sickle cell pt?
Of course hepatomegally is not common in them
unless there is:
- intra hepatic sequestration.
- Intrahepatic cholestasis.
- If they receive blood and they develop hepatitis.
- Complication of the treatment e.g.
Hemochromatosis but not common.
- Extramedullary hemopiosis in the liver.
6) Genitourinary:
The hypertonic environment of renal medulla can
cause sickling and formation of papillary infarction
even in individuals with sickle trait.
Note: papillary infarction occurs due to vascular
occlusion by the sickled cells.
* The renal symptoms are as follow:
1- Polyuria:
Because they have hyposthanuria (loss of ability to
concentrate urine, so urine has low osmolarity
(diluted urine) this will leads to increase amount so
the pts are prone to dehydration.
2- Painless Hematouria: usually unilateral
(AS, SC, SS).
3- Pain + Hematouria:
Because of papillary necrosis and if you investigate
you will find transient elevation of creatinin.
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4- If the pt had renal infarction, he will never forget it

(no way) because it cause sever agonizing pain with
sever Hematouria and fever.
5- They may have glomerulopathies (membranous
type)
e.g. nephrotic syndrome, it is not very common but it
may happen due to membranous nephropathy.
**Later on may end by renal failure because of
previous 5 causes above.
Note:
a) hyposthanuria , papillary necrosis and
renal infarction are due to sickling but :
b) Membranous nephropathy is an idiopathic
immunological process going on.
Note:
Pts usually have uric acid but no evidence of uric
acid nephropathy.
6- Priapism: persistence, painful penile erection.
If persist it will leads to impotency.
It occurs due to vascular occlusion so blood will
accumulate causing persistence erection.
7) Skeletal system:
1- Infarction.
Which causes the following:
a) Pain crisis.
b) Aseptic necrosis e.g. - head of femur.
- head of the humerus.
(Especially in SS, SC)
c) Hand & foot syndrome (dactylitis) in
children (infarction of phalanges).
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2- Bone deformities due to expansion of bone

marrow. (Bossing)
x- Ray findings:
- Biconcave fish mouth vertebrae are
pathognomonic of sickle cell disease.
- bony trabeculation and thickening of
cortex of long bone.
- Sclerosis.
- Aseptic necrosis.
3- Osteomyelitis (common) salmonella is a frequent
pathogen but still staph. is the commonest cause.
# If you get swelling over the shaft of tibia in pt with
SCD the diagnosis is:
o A vascular necrosis
swelling, pain, tenderness.
o Osteomylitis.
# How to know a vascular necrosis?
Do an x-ray . You will see an area of necrosis in
the bone.
# Do you expect to get sinus and pus coming out from
the bone in acute osteomyelitis?
No if you find sinus in the bone discharging pus it
should be chronic.
# What is the x-ray finding in acute osteomyelitis?

The x-ray finding is . No thing.
And this is what proves that it is an acute state.
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# What is important of this?

To differentiate whether this is avascular necrosis
or acute osteomyelitis.
# How do you know that the sinus is from the
bone,
not from the skin?
Because you find the skin attached to bone and you
cannot move it.
8) Haemopoitic:
1. Spleenomegally.
If in infancy then later due to repeated
infarction there will be autospleenoctomy at
adulthood.
Spleenomegally at adulthood happen if pt has
sickle cell Thalasemia.
2. Splenic sequestration.
Here hemolytic crisis leads to sever
congestion of spleen by sickle cell so the pt
goes into shock and dies.
Spleenomegally. Shock Hypotension
. Death.
Note: Sequestration crisis (where blood is
pooled in the spleen) happen in:
- pt < 5 year old.
- Young with SS.
- Adult with SC or S B Thalasemia.
3. Autosplenoctomy (asplenia) :
This is because of repeated infarction of the
spleen by the sickle cells whichleads
to spleen atrophy and then fibrosis.
This is demonstrated by:
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- pocked cell > 2%.

- Howel jolley bodies.
- Spleen scans.
4. Expansion of bone marrow due to
hyperplasia.
5. A plastic crisis.
Due to infection by parvovirus B19.
There will be: - rapid drop in Hb.
- Low Reticulocytes or no (< 4%).
- bone marrow.
It happens only one time in the life of pts.
9) Immune System:
o 2ry to hyposplenism there will be
opsinization defect.
Usually infection with encapsulated
bacteria e.g.
Salmonella.
H. influenza.
Pneumococal.
10) Skin:
Leg ulcer due to stasis. Not common here.
11) Pregnancy:
o Incidence of pyelonephritis.
o Incidence of pulmonary infarction.
o IUFD (intrauterine fetal death).
?What are the types of crisis in sickle cell pt

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1- Vaso occlusive crisis.

2- Hemolytic crisis.
3- Sequestration crisis.
4- A plastic crisis.
** In vaso occlusive crisis. pt mostly presents

with pain.
** Hemolytic crisis is the 2

and the pt present with
nd
most common
-- Anemia.
-- Jaundice.
Note no pain.
** If the pt present with jaundice and pallor

(anemia)What are the diagnosis?
1- liver disease :
It cause anemia because of:
a) Chronicity.
b) Hemorrhage.
c) Malabsorption.
d) A plastic anemia.
And of course it can cause jaundice.
2- Hemolysis :
Commonest cause of such combination.
e.g. in sickle cell anemia.
- Thalasemia.
- G6PD deficiency.
What is the type of hemolysis in sickle cell

pt?
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Extra vascular Why?

Because hemolysis occurs out side the B.V in the
spleen, liver etc.
Other conditions have extra vascular hemolysis:
Thalasemia.
Spherocytosis.
Eleptocytosis.
Autoimmune.
Intra vascular hemolysis (inside the B.V):

E.g.
G6PD deficiency.
Here there is no spleenomegally so it is not
the site of destruction, it occurs inside

B.V due to enzyme deficiency.
Malaria.
TTP (Thrombotic Thrombocytopenic
Purpura)
Hemolytic uremic syndrome (H.U.S).
Paroxysmal nocturnal hemoglobinuria.
DIC
Septicemia.
Clostridium welchi infection.
What will be the color of urine in sickle cell

pt during hemolytic crisis?
Usually they have normal color or colorless urine
because the hyperbilirubinemia here is due to
unconjugated one which will not pass the urine. Also
during hemolysis the urobilinogen (which has no
color or faint yellow color which is the color of the
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urine) increases in urine providing that pt is not

having an obstructive jaundice.
But they may have also tea color (dark)

urineWhy?
1- They are liable to develop pigmented stones
(common complication) which can lead to
obstructive jaundice.so the conjugated
bilirubin will be the one which increases and it
will be passed in the urine turning it to tea color
(dark).
2- Hematouria.. (Due to papillary necrosis).
It will give dark red urine.
3- Dehydration.
So if you get sickle cell pt and you ask him about
urine abnormality he said dark, dont say
expected because of his jaundice.
Note:
# Sickle cell disease is a very famous disease
associated with papillary necrosis as well as
renal infarction.
What are other conditions associated with papillary
necrosis?
- D.M
- Analgesic nephropathy (NSAID)
- Multiple myeloma.
# It is very easy to diagnose Hematouria
because if the pt collect the urine for
sometime and leave it to settle, the blood
will settle down while urine above it will be
clear to some extent.
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Why in intravascular hemolysis there is

dark urine?
Because of hemoglobinuria.
E.g. in G6PD deficiency the increase hemolysis will
leads to depletion of haptoglobin , which is the
molecule that bind the free hemoglobin
( Hb )
, so increase hemolysis cause.
increase Hb level that exceeds the binding capacity of
haptoglobin ,
therefore Hb will permeate the
glomeruli causing..hemoglobinuria , which
will give ..dark urine.
So in intravascular hemolysis the dark discoloration
of urine is not due to bilirubin even though in
intravascular hemolysis still it is indirect bilirubin,
which increases in hemolysis in general.
Note:
- Indirect bilirubin .will not passes the urine
because it is water insoluble.
- Direct bilirubin tea color urine
Because it is water soluble (conjugated).
-Direct bilirubin means obstructive jaundice
which occur in pt due to:
a) Pigmented stone (gall stone).
b) Intrahepatic cholestasis which can occurs
in any hemolysis in general. It is due to
inspissation of bile inside the biliary
canaliculi in liver causing some form of
obstruction.
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**Factors affecting the course of the

disease:
1. Genotype: SS usually has severed disease.
2. HbF level :
- protecting effect in preventing sickling.
- No change in pain.
3. Concurrent Thalasemia . They have
high HbF and less Reticulocytes, and the RBCs
are smaller that allow them to pass through the
microcirculation more easily. So vaso occlusive
crisis and hepatoslenomegaly are less common.
4. Other factors.
N.B: there is an evidence suggested that presence of
HbF with Thalasemia preserve splenic functions for
a certain extent for a longer period in pts.
** Causes of Death:
1)
2)
3)
4)
Intercurrent infection (most important cause).

Multiple pulmonary emboli.
Occlusion of a vessel supplying a vital area.
Sever complications e.g. renal failure.
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** Investigations:
1) CBC:
- Normocytic normochromic anemia ( Hb)
- target calls (sickle cell may be seen in
peripheral smear).
- Reticulocytes > 2%. Usually (10- 40%)
- WBC in acute crisis or due to infection.
- Howel jolley bodies and sidrocytes both
indicate asplenia.
- bilirubin (unconjugated).
- platelets due to hemolysis.
2) Hb electrophoresis:
HbS 90
, HbF 10
, no HbA
If HbA found it indicate recent infusion.
3) Sickling test.
By using Na Metabisulphate.
4) Solubility test.
By using Na Metabisulphate.
5) Serum electrolytes ( k).
6) Septic work up for febrile pt temp > 38.8C.
7) ABG (arterial blood gas) for acidosis.
8) Abdominal x- ray.
9) Bone x- ray. If osteomyelitis and abscess are
suspected.
10) Chest x- ray. If pneumonia is suspected.
11) Screening for G6PD.
12) Joint / bone aspiration. If infection is suspected.
Note: 5 - 12 done if indicated.
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** Indication for admissions:

1) Pain not responds to ER management in 46hrs.
2) Recent ER visits during same crisis.
3) Fever 38.3C.
4) Sever complications.
5) A falling Hb from the base line (< 6 gm/dl) or
Reticulocytes # < 5% with anemia.
Treatment:
For painful crisissupportive:
1) Adequate hydration.
2) Adequate analgesics.
3) Identification& therapy of precipitating factors.
1- Hydration:
By giving hypotonic solution.
Mildmoderate
Give oral 3-5 /day
Sever
Give I.V (Dextrose 5%, 0.5 Normal
Saline, add K)
150 ml/hr for average adult.
Why we rehydrate sickler if he gets the crisis?
In order to decrease the blood viscosity so that
sickling of the RBCs.
Why we give hypotonic solution?
Because isotonic or hypertonic solution will increase
blood viscosity.
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2- Analgesics:
a) Acetaminophen (paracetamol).
b) NSAID
Asprin.
Ibuprofen.
Diclofenac ( I.V voltaran)
Use them regularly and continue for one day
after the resolution of the pain.
Narcotic analgesic:
o Frequently required for moderate to sever
episodes.
o Frequently underused.
o Addiction is rare if used for painful crisis
only and fear of addiction is exaggerated.
o Use regularly 3-4 hr and not prn
(if necessary).
o Wean gradually and overlap oral or
parentral analgesic.
o If pain > 6 days look for other causes e.g.:
- Infection.
- Neurogenic pain.
- Psychological factors(depression)
Oral narcotics:
Codeine usual dose 15-60 mg.
Oxy codeine
5 mg.
Commonly used with acetaminophen or
Asprin.
Tylenol ( 325 mg acetomorphin + 30 mg
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Codeine).
Parentral narcotics:
1) Morphine.
S.C, I.M, I.V
Dose 0.1 0.15 mg/kg/dose
(7.5 10 mg)
0.5 0.1 mg/kg/hr
Continuous I.V infusion.
2) Mepridine (Pethidine)
Dose 50 100 mg I.M
Avoid in renal failure because metabolites
accumulate and cause CNS excitation,
tremor, hyper reflexia or seizure.
3) Pentazocain ( Susagon)
Dose 300 600 mg I.M
3-Adjuvant Therapy:
1. Oxygen
. only if hypoxia.
2. HCO3
. for acidosis only.
3. Sedative (benzodiazepine) for anxiety. No
analgesic property.
4. Antidepressant not useful but may
benefit for pt with frequent painful crisis.
5. Placebo (Dont use).
6. Folic acid ... 1 mg PO Q D. Gives
routinely to sustain increase bone marrow
requirement + erythropiosis.
7. Treatment of infection which is frequent and
the leading cause of morbidity and mortality in
SCD.
**Precipitating factors for infection include:

1- Asplenia.
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2- Impaired phagocytic function.
**Treatment includes:
a. Vigorous search and collection of
appropriate culture.
b. Immunization: against e.g. Pneumococal,
H. influenza.
c. Prophylactic antibiotics in infancy.
d. Early administration of antibiotics.
E.g. if the pt develop signs & symptoms of
pneumonia in this case empirical antibiotic has to be
started which is Penicillin . Why?
Because the commonest organism causing chest
infection in sickle cell pt is streptococcus pneumonia.
If the pt developed osteomylitis, the commonest
organism is 1- staph.
Then
2- Salmonella.
So give antibiotics which are:
For staph. Cloxacillin, methacillin.
For salmonella amoxicillin, ampicillin or
Chloramphinicol
8. Blood transfusion:
Should not be given unless indicated in the list
below.why?
a) Because this blood will increase blood
viscosity.
b) This blood is cold.
These two factors will precipitate sickling
process so if you give pt of Hb = 7 after blood
transfusion Hb will be = 4 in which by this you
harm your pt.
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Note: if you take a history of repeated blood

transfusion from sickle cell pt . you will
know for sure that he is not pure sickle,
he is sickle Thalasemia because no one will
transfuse repeatedly pts with sickle cell anemia.
Indications for blood transfusion:
1. A plastic crisis.
2. Sequestration crisis.
3. Affection of vital organs e.g. CNS or acute
pulmonary infarct.
4. Sever anemia Hb < 6 gm/dl
5. Chronic leg ulcer.
6. Major surgeries.
7. In pregnancy before delivery.
4-specific therapy:
1. Raising HbF to inhibit sickling by
Hydroxyurea which increase the HbF in
80% of pts, but dose not change the
clinical manifestation e.g. Pain.
2. Lowering MCHC i.e. low HbS
intracellular concentration and it is
difficult to achieve because these pts are
hyposthanuric. This is done by
Desmopressin + increase water intake.
3. Anti sickling agent.
4. Prevention by genetic counseling.
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Sickle Cell Trait

Proved resistance to falciparum malaria.
Diagnosis: Demonstrate sickling under reduced
oxygen tension or reducing agents
(Na Metabisulphate) or do solubility test which is
more specific for HbS.
Hb electrophoresis:
35 40 % HbS
55 60 % HbA
No change in overall life expectancy than normal.
AS RBC require a much lower oxygen tension for
sickling than SS RBC.
Occasionally may have splenic infarcts.
They may have .hyposthanuria (inability to
concentrate urine.
.Painless Hematouria due to
medullary infarction.
Sickle Cell Thalasemia

Variable in its clinical severity and complications.
Encounter in people from Mediterranean countries
+ Africa.
Congenital hemolytic anemia with spleenomegally
70 %.
Various types of vasoocclusive crisis but less
sever pain.
Why?
Because the RBCs have MCHC & HbF.
Lab finding:
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- Hypo chromic microcytic anemia.

- Polychromatophilia, target cells, stippling.
- Hb electrophoresis:
60 90 % HbS
10 30 % HbF
- In pt with SB+ Thalasemia HbA 10 30 % and
in pt with SB- Thalasemia there is no HbA.
- HbA2 is moderately raised only in 50% of pt
with SB Thalasemiaso we may go to test
parent where one will be found to be carrier for
sickle cell gene and the other for B Thalasemia.
Sickle HbC Disease

HbC 2 2 6 glu .. Lys.
Mild moderate hemolytic anemia.
Accompanied by spleenomegally.
Peripheral smear: Target cells.
Hb electrophoresis :
HbC 50% participate in polymerization.
HbS 50% participate in polymerization.
risk of ocular complications:
- Prolifrative retinopathy.
- Retinal detachments.
High risk of developing Hematouria from renal
medullary infarction.
Risk of avascular necrosis.
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Sickle HbD Disease

B121 glu . Gln
HbD migrate with HbS in routine electrophoresis
differentiation by doing:
- Solubility test: specific for HbS
- Demonstration of one parent has sickling test.
N.B: homozygous HbC:
. Mild congenital hemolytic anemia.
. Spleenomegally.
Prepared by: Mustafa M. Al-Mubarak

Adopted from: AL-KHORASANI Notes
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Sickle Cell Anemia: Hba Α Β Hba …….. Α Δ Hb F ……… Α, Γ

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Sickle Cell Anemia: Hba Α Β Hba …….. Α Δ Hb F ……… Α, Γ

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