Hemoglobin G Copenhagen beta 47 (CD6) Asp leads to Asn in a Sicilian family.
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Biomedical subjects
Publications and source records attributed to S Marino.
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Haemoglobin F (HbF) levels were significantly increased in 40 children with kala-azar in comparison with controls (3.36 +/- 2.32 versus 0.90 +/- 1.8; P < 0.01). The HbF was heterogeneously distributed among the red blood cells. The glycine residue of peptides gamma CN3 were within the normal umbilical cord blood range, and the haemoglobin synthesis in vitro was balanced. After recovery from kala-azar the HbF fell within the normal range. These results suggest that increased production of HbF is associated with accelerated erythropoiesis due to temporary marrow stress.
The clinical and EEG features of an infant during and after a severe episode of glibenclamide-induced hypoglycaemia are reported, with a 12-month follow-up. The very few cases reported in the literature, together with the present report, suggest that the neurological sequelae of severe hypoglycaemia resulting from ingestion of this drug are due to more patchy involvement of the central nervous system than would be expected from experimental work on hypoglycaemia.
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Lymphocyte subpopulations were studied in 28 children with acute lymphoblastic leukaemia at different stages of the disease. T and B lymphocytes, present in low percentages at diagnosis, increased towards during remission in most patients. All patients off therapy had normal values of T and B lymphocytes. K cell activity, which was increased during remission in several patients, was normal in all patients off therapy. Further prospective studies will establish whether determination of K cell activity is an indicator of the stage of the disease.
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This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Ga16P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.
Blood gas disturbances noted in recent asthma were fully corrected with 1% isoprenalin aerosol, though changes in PaO2 were usually unobtainable in patients with chronic bronchopneumopathic obstruction. Simultaneous administration of 70% hyperoxygenated air via an intermittent positive pressure respirator led to a significant increase in this parameter, but was rarely followed by normalisation of the blood gas picture. It is considered that this finding is attributable to increased anatomical shunt at the alveolocapillary level.
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Ten patients with various clinical forms of bronchial asthma were subjected to exercise of increasing intensity on the bicycle ergometer. It was found that effort is not capable of causing a true asthma crisis, though it may lead to the appearance or accentuation of bronchostenosis. Inhalation of acetylcholine during the tests, however, constantly resulted in crises, even in cases where acetylcholine alone had not caused bronchostenosis.
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Nine Sicilian children known to be deficient in glucose-6-phosphate dehyrdrogenase (G6PD) were studied to see if there were anomalies of bactericidal activity in peripheral blood phagocytes. The type of deficiency was established. The G6PD levels in the leukocyte were found to be 26% of the controls (0.094 +/- 0.03, normal controls 0.360 +/- 0.12). The Michaelis constant for NADP and glucose-6-phosphate (G6P) was lower than the control. Conversely, the utilization of the analogous 2-deoxyglucose-6-phosphate (2dG6P) and galactose-6-phosphate (Ga16P) was higher. The thermostability of the enzyme in the deficient subjects was lower and the pH optima (8 and 9.5) were different from the controls. An identical electrophoretic pattern was found in both normal and deficient subjects. The bactericidal activity in the deficient subjects was normal. There was no difference in the results of nitroblue tetrazolium (NBT) tests in either group.
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