1. sibling) 1(+ 1 sibling) I Tanaka;Volpato et al.;Brunetti et al. (1963) Busch (1963) and Busch et al. (1966) Bowdler & Prankerd (1964) Oski et al. (1964) Bestetti et al. (1964) Bowmann et al; Oski & Diamond,1962
2. Pyruvate kinase (PK) deficiency is after G-6-PD deficiency the commonest enzyme defect found in cases of CNHA. More than eighty cases have been reported so far (for list of references see Keitt, 1966; Volpato, Vige & Cattarozi, 1968). It is impossible to estimate the percentage of cases with neonatal manifestations, as in many of the reports no clinical details are given, or vague descriptions such as 'anaemia or icterus present since birth' make it difficult to form a clearcut picture of the neonatal course in this enzymomopathy. In Table 2 we have listed all the reports which include cases of PK deficiency with neonatal manifestations
3. Two of the families are related and consanguinity exists in one of them. The common racial origin of the other family makes it possible;anaemia (Schneider,1965
4. Diphosphoglycerate mutase deficiency was almost certainly the cause of severe anaemia at birth, but no jaundice, in an infant which demonstrated a severe haemolytic process for the duration of his life (he died from bronchopneumonia at 7 weeks). The parents were first cousins and the enzyme activity in them was 50% of the normal (Schr6ter, 1965). In two more cases with neonatal manifestations this enzyme defect was inferred from the low levels of 2,3-diphosphoglycerate,1964
5. Hexokinase deficiency was found in a girl with severe anaemia and jaundice appearing in the first few hours of life and necessitated an exchange transfusion at the age of 4 hr,1967