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Published byAlberta Lucas Modified over 9 years ago
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Neonatal Hereditary Spherocytosis Prof. Rai Muhammad Asghar Head of Paediatric Department RMC & Allied Hospitals
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Neonatal Hereditary Spherocytosis Common cause of hemolysis and hemolytic anemia Autosomal dominant Less commonly autosomal recessive 25% new mutations Abnormalities of spectrin or ankyrin Reduced surface to volume ratio leads to spherocytosis Decreased deformability leads to hemolysis
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Clinical Manifestations Hemolytic disease in newborn Anemia Hyperbilirubinemia HbF binds to 2-3 diphosphoglycerate poorly Increased level of 2-3 DPG destabilization interactions in RBC membrane Severity is variable
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Investigations / Workup A - Severity and trend of hyperbilirubinemia B – Confirm the cause of hyperbilirubinemia
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Investigations Severity and trends of hyperbilirubinemia At birth Obtain cord blood – Bilirubin (total & direct) – Blood type & Rh – Direct Coombs test – CBC, platelets – Reticulocyte count – Albumin
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Hyperbilirubinemia Repeat S Bilirubin at least q4h for the first 12 to 24h. Plot bilirubin concentrations over time. Begin phototherapy shortly after birth 0.7mg/h rise is pathological
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Exchange Transfusion Indications Cord bilirubin >5 mg/dL Hyperbilirubinemia not controlled by phototherapy and the rate of rise of bilirubin >0.7 mg/h Bilirubin >20 mg/dL in a term infant, and lower levels in preterm infants
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Investigations ( Hereditary Spherocytosis) Hb level is low (usually 6-10g/dl) Reticulocyte > 10% MCV Normal MCHC Increased Spherocytes > 15-20% Direct coombs test negative Osmotic fragality Cryohemolysis test Osmotic gradient ektacytometry Eosin-5-maleimide binding test RBC membrane protein analysis using gel electrophoresis and densitometric quantitation Molecular diagnosis
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