Molecular characterization of á-thalassaemia mutations in Guadeloupe - abstract

In order to delineate the spectrum of á-thalassaemia (á-thal) mutations in the Guadeloupean population, we have analysed a representative sample of 59 unrelated families carrying a á-thalassaemia trait. Using gene amplification, hybridization with 32P-labelled oligonucleotide probes and sequencing of amplified DNA, 8 different á-thal mutations were identified in 62 members of 36 families. Four of these families carried a á§-thal trait whereas, in the 32 others, a á+-thal trait has been identified. All patients were á-thal heterozygous: 30 had Hb S/á-thal, 1 had Hb C/á-thal, 1 had HPFH/á-thal whereas the remaining 30 had a Hb A/á-thal genotype. Four of the á-thal mutations detected [-29 (A -> G), IVS-I-5 (G -> C), IVS-II-1 (G -> A) and CD 24 (T -> A)] accounted for approximately 88.8 percent of the á-thalassaemia chromosomes identified. The four other variants, -88 (C -> T), IVS-I-5 (G -> A), IVS-I-5 (G -> T) and IVS-I-2 (T -> C), are less frequent. The á-thalassaemia mutations in 23 families remained unidentified and are under investigation. This study provides data for prenatal diagnosis of sickle-cell disease for Hb S/á-thalassaemia genotypes (AU)

The assessment of fructosamine determination as a screening test and for the therapeutic control of diabetes mellitus - abstract

The determination of fructosamine is a new colorimetric method to measure non-enzymatically glycated proteins in serum (Johnson et al, 1982). It has been proposed that fructosamine measurement in sera is an index of glucose control (1 to 3 weeks) during the period corresponding to plasma protein turnover (Baker, 1983). The purpose of the study was to adapt the test to centrifugal analysis, to establish normal ranges of fructosamine in blood for non-diabetic subjects and to correlate fructosamine levels with fasting blood glucose concentrations and glycated haemoglobins in normal and diabetic patients (WHO criteria). The results show a significant correlation between these tests. The fructosamine test seems to be useful as a screening test for diabetes mellitus and is suitable for assessing the control of blood glucose. Fructosamine determination represents an alternative measurement to glycated haemoglobin in blood. It is technically simple, accurate and easier in regard to automated adaptation (AU)