Double heterozygosity for haemoglobin Malmø and beta-thalassaemia traits, with unusually high haematocrit values, in a Sicilian man.
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Hematocrit↗
Biomedical subjects
R Paleari
Publications and source records attributed to R Paleari.
Preparation and control of ethylene glycol-stabilized haemolysates for glycated haemoglobin assay.
The preparation and evaluation of ethylene glycol-stabilized haemolysates for use as control material for the assay of glycated haemoglobins is described. These haemolysates were prepared from normal and diabetic blood samples by following the procedure normally used to purify human haemoglobin, with the addition of dialysis to remove glucose from the labile fractions, and dilution with ethylene glycol. All the haemoglobin fractions were converted into the carbon monoxide form to increase their stability and were stored under different conditions. During a 10 month period of storage at -20 degrees C no significant change in the glycated haemoglobins level was observed.
Blood Glucose↗
Preliminary experience with the differential pH technique for glucose-6-phosphate dehydrogenase (G6PD) measurement in whole blood: application to an area with high prevalence of thalassaemia and G6PD deficiency.
A new differential pH technique for glucose-6-phosphate dehydrogenase quantitative determination in whole blood has been evaluated. It is a rapid (90 s/analysis), reproducible (C.V. within-run 3.7%; between-run: 2.8%) and accurate method (in comparison with WHO method: r = 0.970). Reference intervals in non-deficient males were evaluated in 167 non-thalassaemics and in 60 beta-thal heterozygotes. The G6PD activity in beta-thalassaemia carriers is higher than in normals; this is particularly true if the activity is expressed in terms of U/g Hb. The phenotypic distribution measured in females is in agreement with that calculated by the Hardy-Weinberg law based on the incidence of the Gd(-) gene in males.
Adolescent↗
Double heterozygosity for hemoglobin Malmö [beta 97 (FG 4) His----Gln] and beta-thalassemia traits.
A 32-year-old Sicilian man had marked erythrocytosis (Hb = 23.0 g/dl, RBC = 10.5 x 10(12)/l, MCV = 71 fl, Hct = 84-92%, a 4.5 times increase in total erythropoies) and saphenous system varices, without other clinical abnormalities. By Hb electrophoresis, an abnormal Hb migrating slightly more anodally than Hb A was found. HbA0 was almost completely absent. The abnormal Hb was recognized to be Hb Malmö [beta 97 (FG4) His-Gln], a human Hb variant with greatly increased oxygen affinity. The patient was also a carrier of the beta-thalassemia trait. The father of the propositus was a heterozygous carrier of Hb Malmö (about 40% of total Hb), while his mother had only a beta-thalassemia condition. This is the first reported case of double heterozygosity for both Hb Malmö and beta-thalassemia, thus producing complete absence of normal Hb.
Adult↗