Neonatal Hereditary Spherocytosis Prof. Rai Muhammad Asghar Head of Paediatric Department RMC & Allied Hospitals

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

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

Investigations / Workup A - Severity and trend of hyperbilirubinemia B – Confirm the cause of hyperbilirubinemia

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

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

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

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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