Sickle Cell Disease

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.: Sickle cell disease :.
- Autosomal Recessive  mode of inheritance

- single point mutation in ß chain at position 6
(( glutamate  valine ))
- α  2 gene in 16 chromosome
- γ  2 gene while, δ & ß  one gene and all of them in
11 chromosome
o Hb A1  α2 ß2
o Hb S  α2 ß2s (s is above 2)
o Hb A2  α2 δ2
o Hb F  α2 γ2
- SC trait Hb S  < 50%

- SC anemia Hb S  > 50%
Genotype Δ Hb A Hb S Hb A2 Hb F
AA Normal 97% - 1-2% < 1%
AS Sickle 60% 40% 1-2% < 1%
trait
SS Sickle cell 0 86-98% 1-3% 5-15%
anemia
S ß0 Thal S ß Thal 0 70-80% 3-5% 10-20%
Sß+ Thal S ß Thal 10-20 60-75% 3-5% 10-20%
AS,αThal Sick trait 70-75% 25-35% 1-2% < 1%
Written by: Ghanim Al-Ghanim

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Types:-
1- Indian type
 less worse
 most commen in eastern province
Hb F high splenomegaly
protective
2- African type
 H F  autosplenectomy
 most common in south
Pttt factors:
 Unknown
 Hypoxia  high altitude
 Dehydration  hot atmosphere.
 Vasospasm  cold atmosphere.
 Exercise
 Delivery
 Operation
 Infection
 Psychological
 Acidosis like lactic especially in infection..
Crisis :-
1- Vaso-occlusive Crisis:
micro-infarction"
Sudden pain ( abdominal , chest , joint , back ,
generalized)

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Macroinfarction
- Heart :
Cardiomyopathy , chronic heart failure , high
output failure, MI.
functional ejection systolic murmur , Rt heart
failure due to pulmonary embolism & lung disease
2ry to SCD.
- lung :
Acute chest syndrome  fever, chest pain, SOB,
hypoxia, bilateral infiltrate in chest x-ray
Most of the time..It is too difficult to diff
between bilateral pneumonia & ACS….
Mechanism :
1-Atypical bacteria like mycoplasma, Chlamydia..
2- fat embolism from the infracted bone
3- voc
4- over hydration
5- unknown
ttt:
ICU,IVF, O2,EXCHANGE TRANSFUSION, AB
broad spectrum, incentive spirometry(triflow),
Ventolin nebulization,
DΔ  pneumonia, pulmonary infarction, acute
pleurisy
- CNS :
Stroke, convulsion, coma, visual disturbance
- hepatobiliary :
Liver failure, cholestasis, gall stone, jaundice 
"hymolysis", hepatitis B & C from bl. Transfusion.

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- Gu :
 Hyposthanurea  polyurea
 Papillary necrosis  painless hematuria
 Medullary infarction  pain + fever with
hematuria
 Membranous GN  immuogical
 Renal Failure
 Nephritic syndrome
 Priapsm
- skeletal :
1. Asptic necrosis head of femur ( avascular
hip necrosis)…..hip joint replacement..
2. osteomylitis "staph aureus , sallmanella"
3. frontal bossing  expansion of bone
marrow
4. foot & hand syndrome ductylitis…mostly
in children
- hemopoitics :
spleen  splenomegaly  with time
sequestration crisis  shock & die
or autosplenoctomy  due to spleenic
infarction  fibrosis
- immunity :
 infection with encapsulated bacteria: strepto.
pneumonia, H. influenza, salmonella.
 Causes of low immunity:
1- Opsinization defect
2- 2ry to hyposplenism as we know that our spleen
play a major role in immunity…..
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- skin :
Leg ulcer due to stasis of the blood.
- pregnancy :
IUFD (intrauterine fetal death)
Premature labor
- endocrine :
Delay puberty
Delay 2ry sex characteristics
- vascular :
 Endothelial proliferation
 Peripheral venous occlusion
- eye :
 Retinal infarction
 Vitreous hemorrhage
 Retinal detachment
 Atriovenous anomiles
 Retinitis proliferance
 Periphrheral vessels disease
2- Hemolytic Crisis
 Anemia : fatigue, dyspnea  excertional or
postural, jaundice, dizziness, palpitation, headach,
blurred vision,
3- Aplastic Crisis:
 parvo virus B 19  low WBC, Hb & plat, low
reticulocyte
So patient came with:
 Anemia ( normocytic normochromic) mostly
 Recurrent infection as URTI, Pneumonia ,UTI

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 Bleeding tendency  bruising ,gum bleeding,

epistaxsis, hematuria and hemoptasis,
hematomesis…
4- Megalobastic Crisis:-
Macrocytic anemia
Because  not take folic acid
5- Sequestration Crisis:-
Especially in kids since their spleen still enlarged..
Due to sudden polling of blood in spleen 
hypovolemic shock & severe anemia symptoms
(dizziness, pallor, faint, palpitation) & abdominal
distintion
Detection of Hb S:
 Sickling test  doesn't diff. AA, SS or S Thal
 Solubility test  specific for sickle
 Hb electrophoresis  this is the commonly used
 DNA mutation
Causes of death:
 Infection  commenst**
 Multiple pulmonary emboli**
 CRF**
 Stroke
 Occlusion of vessels that supply vital organs.**
 Corpulmnale
 Acute chest syndrome **
Causes of blood transfusion:

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Urgent Relative
 Sequestration crisis**  Symptoms of anemia
 Acute chest syndrome**  Before Surgery
 Aplastic crisis**  Blood < 5-6 g/dl
 Hemolysis  Papillary necrosis
 Hypochronic microcytic hematuria
 G6PD hemolysis  Pregnancy
 The Most important is  Leg ulcer
the 1st three  Repeated episode of
stroke
Managment in steady state:-

 Pneumococcal ( every 5 years) & influenza vaccine
( every year)
 Avoid pttt
 Folic acid 1mg-5 mg od
 Hydroxyuria
 Good oral hygein
 OPD clinic
Indication of admittion:
 Pain not response to ER mangment in 4-6hr
 Recent ER visit during same crisis
 Fever more than 38.3C
 Sever complication
 Low Hb from base line …which mandate blood
transfusion ( drop from the base by 2 gm, or
symptomatic anemia)
Investigations :

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1.CBC:
 Normocytic normochlonic anemia
 Peripheral blood smear  target cells and sickle
cell
 Reticulocyte > 2% usually more than 10%
 High WBC  hemolysis( bec the high reticulocyte
count & the machine read it as WBC) or infection
 Howel jolly body  hyposplenism
 High biluribin  cong.  gall stone, cholestasis
 uncongegated  hemolysis
 Platlet increase due to hemolysis or decrease due
to aplastic
2. Hb electrophoresis if not done or new patient or
before surgery…
3. sickling test
4. serum electrolyte  dehydration
5. septic work up( 2 blood cultures, URINE
ANALYSIS, URINE CULTURE, THROAT SWAB,
CHEST X-RAY, SPUTEM CULTURE  if there is fever
6. ABG  HYPOXIA BY PULSE OXYMTER
IF U SUSPECT THE ACIDOSIS IS THE
CAUSE
7. abdominal  US show stone
8. bone x-ray, MRI
 IF U SUSPECT OSTEOMYLITIS
9. G6PD screening  IF the patient came to us for

the first time but if he out hemolysis..

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In hemolysis  increase LDH, Fe, K, and biluribin but

decrease haptoglobin
10. RFT  RF, DEHYDRATION
11. urine analysis  INFECTIN ( high wbc , bacteria,
nitrite +ve) HEMOLYSIS ( increase urobilonogen) gall
stone( conjugated biluribin)
12. chest x-ray  heart, infection, acute chest
syndrome, thrombo-embolic
13. hip x-ray (AVN)
Management :
 Stop pttt factors
 IV fluid 3-5 L/day … 1/2 normal saline try to
avoid D5W bec it increases the dehydration…
 O2  only when there hypoxia detected by ABG
 Analgesia:
- It depends on the severity of pain…
**Mild … po...paracetamol…NSAID( voltarin,
brufe)
**Mod-sever …( morphine SC or IV)
 Folic acid 1mg – 5 mg po/day
 Blood transfusion if needed
 Hydroxurea if there is indications
- most pat. With SCA  steady state Hb 6-8 g/dl

With increase reticulocytes 10-20%
Complication of blood transfusion :

 Infection
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 Fe overload = hemosidrosis
 Isoimmunisation
 Anaphylactic rx.
Exchange transfusion hypertransfusion :
 Intractable pain crisis
 Priapism
 Stroke
Hydroxurea Indications :
> 3 episode of pain / year
Hb F < 20%
.: Common questions in SCD :.
The questions written by : Ahmed Alwusaibie

And answered by : Dr. Khawla Al-Ghanim
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 Whats the different bt sickle cell anemia and disease?

SCD means SCA, SC thalassemia , SC triat
 In which age sickler present ?
6 months bec Hb F shifted to Hb A in normal people but he
doesn’t have Hb A he has Hb S that is why he developed
manifestation…..
((ahmad answer is 6 month in aferican type , 2 or 3 yr in indian type))
 Why late presentation here in saudi?
High HbF
 Whats the range of Hb F in sickler?
5 – 15 % may 30% in Indian type in Saudi eastern
 How to diagnose G6PD deficiency?
By checking the level g6pd…between the hemolysis…
Not during hemolysis bec reiculocyte give u high level
 G6PD stand for what?
Glucose 6 phosphate dehydrogenase
 Whats the consequence of hemolysis?
Gall stones , anemia, jundced..
 Why we give folic acid in SCA? Why not B12
Bec half life of FA 3 months while B12 3-5 years & our food
plenty of B12.
 Whats the absulote and relative indication for bd transfusion in SCA?

urgent Relative
 Sequestration crisis  Symptoms of anemia
 Acute chest syndrome  Surgery
 Aplastic crisis  Blood < 5-6 g/dl
 Hemolysis  Affection of vital organ
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 Hypochronic microcytic  Pregnancy

 G6PD hemolysis  Leg ulcer
 The Most important is  Repeated episode of
the 1st three strock
 Whats the indication for exchange transfusion?

- Intractable pain crisis
- Priapism
- Strocke
 Whats does exchange transfusion mean?
It means u exchange the blood of the patient 500cc remove &
1 L give
 In age of 6 yr what's the most common crises?
Sequestration crisis bec their spleen still enlarged
 Patient come to hospital 2 or 3 time /yr is it frequent?
More than 3 times per year
 How to estimate the severity of SCA?
By asking about the frequency of attacks, icu admission,
Blood transfusin,
 SCA with thalasemia why they have less crises?
Bec of Hb A2
 Where to look for pale?
6 area (Nail, palm, conjunctiva, ...)
 Whats the differential diagnosis for dullness in Tropz
area?
Spleenomegaly & pleural effusion…….
(fatooma note is # causes for traube's area dullness: stomach pathology "carcinoma" ,
pancreatic carcinoma , lung pathology " pleural effusion".)
 Whats Tropz area?
 Is anemia = pale?
No bec when the patient scared will be pale
 My patient was having spleenomgaly whats ur explanation?
Sequestration crisis, some people did not get trophied spleen,
 Whats the normal MCV, MCH, Hb?
MCV (mean cell volume) = 78-98 fl

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MCH (mean cell Hb) = 27-32 pg

Hb (M) = 13-18 g/dl Hb (F) = 11.5-16.5 g/dl
 Huge spleenomegaly is not good for examination why?

Fear of repture
Written & collected by: Ghanim K. Al-Ghanim.

Special thanx for: Dr. Khawla K. Al-Ghanim
.Ahmed Alwusaibie

Sickle Cell Disease

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WWW.WSS4M.

.: Sickle cell disease :.

- Autosomal Recessive  mode of inheritance

- SC trait Hb S  < 50%

Written by: Ghanim Al-Ghanim

Written by: Ghanim Al-Ghanim

Written by: Ghanim Al-Ghanim

Written by: Ghanim Al-Ghanim

 Bleeding tendency  bruising ,gum bleeding,

Causes of blood transfusion:

Managment in steady state:-

Written by: Ghanim Al-Ghanim

9. G6PD screening  IF the patient came to us for

Written by: Ghanim Al-Ghanim

In hemolysis  increase LDH, Fe, K, and biluribin but

- most pat. With SCA  steady state Hb 6-8 g/dl

Complication of blood transfusion :

.: Common questions in SCD :.

The questions written by : Ahmed Alwusaibie

 Whats the different bt sickle cell anemia and disease?

 Whats the absulote and relative indication for bd transfusion in SCA?

 Hypochronic microcytic  Pregnancy

 Whats the indication for exchange transfusion?

 Whats Tropz area?

Written by: Ghanim Al-Ghanim

MCH (mean cell Hb) = 27-32 pg

 Huge spleenomegaly is not good for examination why?

Written & collected by: Ghanim K. Al-Ghanim.

Written by: Ghanim Al-Ghanim

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