Pathophysiology

The neonate is uniquely disadvantaged when it comes to handling pathological haemolysis because of hepatic immaturity and altered enzyme activity. Thus congenital defects of the RBC commonly present in the newborn except for defects involving the |3 globin chain (e.g. SCD, |3 tha-lassaemia) which become clinically manifest several weeks after birth but can be diagnosed in utero, or in the neonatal period if suspected. HS is the commonest congenital haemolytic anaemia in Caucasian populations; half present in the neonatal period. Worldwide, G6PD deficiency occurs in 3% population; neonatal presentation is common in Mediterranean and Canton peoples. a thalassaemia is incompatible with life causing hydrops fetalis (all 4 a globin genes deleted), or may present as HbH disease (3 of the 4 a globin genes deleted) with mild to moderate haemolysis in neonate.

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