Prenatal diagnosis of sickle cell anemia by restriction endonuclease analysis
Diagnosis sickle cell anemia
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Transcript of Diagnosis sickle cell anemia
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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
comment
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.
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OXY-STATE DEOXY-STATE
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• 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.
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Signs ,symptoms & complications
• Anaemia• Episodes of pain• Hand-foot syndrome
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• Frequent infections
• Vision problems
• Delayed growth
• Any signs or symptoms of stroke
• Enlarged heart and systolic murmurs
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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 !!!!!!