Red Cell 2,3‐Diphosphoglycerate Levels in Children with Hereditary Haemolytic Anaemias

The role of red cell 2,3‐diphosphoglycerate (2,3‐DPG) in increasing the availability of haemoglobin oxygen in neonatal jaundice and hereditary haemolytic anaemias was investigated. Measurements of 2,3‐DPG were carried out on 58 normal children and six normal adults, 18 full‐term newborns with neonatal jaundice and 57 cases (51 children and six adults) with hereditary haemolytic anaemias. In normal children and adults, with a mean haemoglobin of 12.69 g/dl, mean 2,3‐DPG was 14.90 μmol/g Hb. In jaundiced newborns with a mean haemoglobin of 16.04 g/dl mean 2,3‐DPG levels were 14.51 μmol/g Hb, i.e. normal. 2,3‐DPG levels were increased in patients with β‐thalassaemia major, α‐thalassaemia, sickle‐cell disease, favism, hereditary spherocytosis and in heterozygotes for β‐thalassaemia with increased haemoglobin F. In heterozygotes for β‐thalassaemia with increased haemoglobin A2 only and in sickle cell trait 2,3‐DPG levels were normal. Copyright © 1975, Wiley Blackwell. All rights reserve

Relationship between tocopherols and serum lipid levels in children with β thalassemia major

Serum tocopherol levels were found to be below normal (< 0.5 mg/100 ml) in nine (50%) of 18 children with β-thalassemia major receiving inadequate treatment with blood transfusions. The mean tocopherol levels mg/100 ml significantly lower in the children with β-thalassemia (0.57 mg/100/ml ± 0.20) than in the controls (1.08 mg/100 ml ± 0.24). Serum total lipid levels were found to be low in children with β-thalassemia. The difference between the mean total lipid level in the β-thalassemic patients (365 mg/100 ml ± 75) as compared to that of the controls (581 mg/100 ml ± 94) was highly significant (P< 0.01). The ratio of serum tocopherol to 1 g total lipids was lower in children with β-thalassemia (1.41 mg/100 ml ± 0.43) than in the controls (1.88 mg/100 ml ± 0.46) and the difference was significant. Yet, only three out of the 18 children with β-thalassemia showed a ratio of less than 0.8 mg/100 ml tocopherol per 1 g total lipid which may be considered indicative of tocopherol deficiency

Persistence of haemoglobin “bart's” beyond infancy in a child with thalassaemia

In a 9-year-old child with thalassaemia haemoglobins A and F and also haemoglobin “Bart's” were found. Hitherto “Bart's” has been demonstrated only in early infancy, and its persistence into a later age in conjunction with thalassaemia is further evidence in favour of its being a variant of foetal haemoglobin. © 1959, British Medical Journal Publishing Group. All rights reserved

Diagnostic problems in severe neonatal jaundice and G6PD deficiency in Greece

Examinations were made of 302 full-term newborn infants with severe jaundice (indirect bilirubin >20 mg./100 ml. in 79.7% of the cases) for G6PD deficiency by 3 diagnostic methods, of which the methaemoglobin-elution test proved to be superior. 99 or 32.7% of the cases were found to be G6PD deficient by the latter method (59 males and 40 females): a male : female ratio of 1.47. 8 of the 59 males had normal values of G6PD activity and are probably cases of the mild G6PD deficiency type. The difficulties involved in the diagnosis of G6PD deficiency in the newborn period were discussed

Glucose-6-phosphate dehydrogenase activity levels in enzyme-deficient greek individuals

Quantitative assay of G.-6-P.D. activity in Greek individuals with the enzyme deficiency showed that there was practically total absence of enzyme activity in hemizygous males who were not in favic crisis; that small yet statistically significant levels of enzyme activity were found in hemizygous males during favic crisis: that practically all heterozygous women had values of enzyme activity significantly lower than normal; and that infants with a past history of severe neonatal jaundice not due to blood-group incompatibility or drug exposure were found to have the same degree of G.-6-P.D. deficiency as other deficient subjects. © 1963, British Medical Journal Publishing Group. All rights reserved

Leucocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity in G-6-PD deficient subjects

The activity of glucose-6-phosphate dehydrogenase (G-6-PD) in leucocytes was studied in the following groups of Greek people. Group 1: 43 male children and 16 male students with mean values of enzyme activity of 27.7±16.6 units and 24.6±5.6 units, respectively. Group 2: 15 G-6-PD deficient male children who had never experienced an acute haemolytic episode with a mean value of 10.8±4.6 units. Group 3: 19 G-6-PD deficient male children during favism and 3 months after the haemolytic crisis with mean values of 8±4 units and 9.2±1.9 units, respectively. Group 4: 19 mothers of children from group 3 who by definition were carriers of G-6-PD deficiency had a mean value of 18.2±8.2 units. The difference between means for group 1 and groups 2, 3 and 4 is highly significant (P<0.001). Therefore the enzymatic defect in Greek people is not limited to the erythrocytes but can be also demonstrated in leucocytes. © 1980 Springer-Verlag