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ssDIAGNOSIS

OF

SICKLE CELL

ANAEMIAP.R. JayawickramaD.S. KaluwadugeK.K.G. KandewaththaM. KanchanamalaUNIVERSITY of RUHUNA , FACULTY of MEDICINE.

23.11.2012

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A four years old boy was brought to the pediatric hospital with a history of severe back pain and uncontrolled vomiting since previous night. Further His mother told that her child was complaining about some attacks of back pain occurring during the past months. On examination patient was pale and spleen was palpable below the costal margin……!!!!

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In investigation,

• Haemoglobin level - decreased• Peripheral blood smear - sickled cells - nucleated RBC

-features of microcytic hypochromic anaemia

• X-ray of the skull – hair on end appearance of frontal bone

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SICKLE CELL ANAEMIA……????

Inherited. form of an anaemia as a result of mutation in Hb. RBC sickled or crescent shaped.

NOT enough healthy RBC to carry adequate oxygen.

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Normally, humans have

Of these, Haemoglobin A makes up around 96-97% of the normal haemoglobin in humans.

Haemoglobin

A two alpha two beta

A2 two alpha two delta

F two alpha two gamma

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Common types of Sickle Cell DisordersType of anaemia

Hemoglobin variation

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Sickle Cell Anemia

Sickle haemoglobin (HbS) + Sickle haemoglobin

Most Severe – No HbA

Hemoglobin S-Beta thalassemia

Sickle haemoglobin (HbS) + reduced HbA

Mild form of Sickle Cell Disorder

Hemoglobin S-C disease

Sickle haemoglobin (HbS) + (HbC)

Mild form of Sickle Cell Disorder

Sickle Cell Trait

Sickle haemoglobin (S) + Normal haemoglobin (A)

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Pathophysiology

Is caused by • point mutation in the β-globin chain of Hb glutamic (hydrophobic amino acid)

valine( hydrophilic )

• at the 6th position

Life span • RBC 90–120 days• sickle cells 10–20 days.

OXY-STATE DEOXY-STATE

• exposure to P O2 < 40 mmHg for 2 to 4 minutes • polymerization of Hb• The initiation of polymerization may be

-incomplete and -reversible , if re-oxygenation occurs early

in the process. • Repetitive exposure to alternating de-

oxygenated and oxygenated states lead to -membrane distortion,

-irreversible sickling.

Signs ,symptoms & complications

• Anaemia• Episodes of pain• Hand-foot syndrome

• Frequent infections

• Vision problems

• Delayed growth

• Any signs or symptoms of stroke

• Enlarged heart and systolic murmurs

Laboratory investigations

Complete blood count

Level of Hb -: 6–8 g/dL (Normal range-: Male=13.5-17.5g/dl Female=11.5-15.5g/dl) High reticulocyte count (10–20%).

Blood film

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The blood film is microcytic and hypocromic

Sickled cell anaemia Normal

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Sickle solubility test

Mixture of Hb S in a reducing solution

Gives a turbid appearance (Precipitation of Hb S)

Normal Hb gives a clear solution

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■ Hb electrophoresis

• To confirm the diagnosis. • There is, no Hb A 80–95% Hb SS 2–20% Hb F

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Results of laboratory examination in sickle cell anaemiaLaboratory examinations

results Values in this disease

Values in health

WBC count increased 10000 -30000 5000 -10000

RBC count decreased 1 -4 million/mm3 4 -6 million/mm3

Hb count decreased 6 -8g/100ml Male=13.5-17.5g/dlFemale=11.5-15.5g/dl

Haematocrit reading decreased 10 -30% 45%

Reticulocyte count increased 10-40% 1-2%

Hb electrophoresis positive HbS & HbF HbA

Urine analysis Albumin casts positive negative

Serum bilirubin increased 1-3 mg/100ml 0.2-0.8mg/100ml

Platelet count increased 40000-50000/mm3 150000-400000/mm3

Bone marrow exanination

Increased red cells 40-70% 8-30%

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Tests to detect sickle cell genes before birth

Diagnosed in an unborn baby

Sampling amniotic fluid

Look for the sickle cell gene

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Hair on end appearance‐ ‐

X-RAYS

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Hand-foot syndrome

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Chest x-ray

Acute chest syndrome

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Bone deformity

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MRI - Osteonecrosis

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REFFERENCES• Kumar & Clark’s clinical medicine, 7th eddition

• Ganong’s physiology, 23rd eddition

• Quinn CT, et al.: Minor elective surgical procedures using general anesthesia in

children with sickle cell anemia without pre-operative blood transfusion.

Pediatr Blood Cancer 2005; 45:43–7

• Marchant WA, Walker I: Anaesthetic management of the child with sickle cell

disease. Paediatr Anaesth 2003; 13:473–89. Anesthesiology Problem-oriented

Patient Management, 6th ed. 2008, pp 980–92.

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ACKNOWLEDGEMENT

we wish to thank our dear sir Dr.Mahinda Kommalage for all the advices and his valuable time in completing this presentation.

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THANK YOU !!!!!!