[School screening of hemoglobinopathies in the Marseilles area. An analytic study of 35,289 tests]. / Dépistage scolaire des hémoglobinoses dans la région marseillaise. Etude analytique de 35,289 examens.

A systematic screening for thalassemias and hemoglobinopathies was performed in 35,289 children with a double test associating blood cell counts and hemoglobin electrophoresis. Four hundred thirty-seven (1.23%) hemoglobin abnormalities were found, consisting of 274 cases with thalassemia (0.77%) and 159 hemoglobinopathies (0.45%) among which there were 80 cases with sickle-cell trait (0.22%), 30 with hemoglobin C (Hb C) (0.08%), 19 with Hb D (0.05%), 12 with HbJ (0.03%), 12 with Hb E (0.03%). There was an obvious ethnic influence as, among 17,180 autochtonal French children, only 15 abnormalities were found (0.08%) while 392 were found in 16,850 non autochtonal children (2.32%) and 30 in 1,259 French children from Corsica (2.38%). The highest incidence was found in Italians (173 of 6,455-2.68%) and Maugrabins (105 of 3,014-3.48%).

[Anemia and dysmyelopoiesis with marker chromosome and transferrin receptor anomaly]. / Anémie et dysmyélopoïèse avec chromosome marqueur et anomalie du récepteur de la transferrine.

A 64-year old man presented with microcytic hypochromic aplastic acquired anemia without iron depletion. His bone marrow was hypercellular with dyserythropoiesis and no stainable iron deposits. 59 Fe incorporation by erythroblasts was reduced, and the karyotype revealed an aneuploidy with marker chromosome. After study of transferrin receptor with specific antibody, we conclude that the receptor presents a functional defect.

Hb Marseille [alpha 2 beta 2 N methionyl-2 (NA2) His----Pro]: a new beta chain variant having an extended N-terminus.

A new abnormal hemoglobin was found in a diabetic Maltese woman by citrate agar electrophoresis. This variant was undetectable by isoelectric focusing. No hematological abnormalities were observed. The structural analysis included isolation of the abnormal beta chain, high pressure liquid chromatography of the corresponding tryptic peptides and then microsequencing of the abnormal T1. These procedures revealed a double abnormality: the presence of a methionyl residue extending the NH2 terminus and a histidine to proline substitution in position NA2.

[Hemoglobinopathies and arterial pathology]. / Hémoglobinopathies et pathologie artérielle.

Mutation of the hemoglobin molecule which characterises sickle cell anemia causes the falciformation under conditions of slow oxygen pressure, an increase in blood viscosity and premature destruction of the red blood cells. The vascular disorders, which are of variable nature, intensity and gravity, influence to a great extent the disabling character of the disease. Vaso occlusive crises are often associated with intercurrent infection. The retinopathy (well demonstrated by fluorescein angiography) is the most typical arteriolar disorder. In homozygotic patients, stenosis of the proximal portions of the large arteries leads to cerebrovascular complications, probably related to microcirculatory defects, responsible for variable clinical problems and some Moya-moya syndromes of childhood. From the therapeutic point of view, early treatment (transfusion and rehydration) allows regression without sequelae. Prevention is based on patient education to avoid triggering factors and a number of investigations, none of which has yet provided an absolute solution.

[Dyslipidemia and hyperbaric osteonecrosis in the rat]. / Dyslipidémie et ostéonécrose hyperbare chez le rat.

The authors subjected 149 adult Sprague-Dawley rats to repeated experimental dives, simulated to 160 m. Histopathological examination (femurs and tibias) revealed no evidence of osteonecrosis in either normal or dyslipidaemic animals. Study of the calcium metabolism using 45Ca revealed a significant drop in the levels of free and bound calcium and in the rate of exchange between the two compartments, in the dyslipidaemic animal placed in hyperbaric conditions.

Kinetics of fast haemoglobin in diabetic rats.

This study was designed to examine the appearance and disappearance kinetics of glycosylated haemoglobin during abrupt changes of blood glucose in the rat. The concentration of the fast haemoglobin component, which has similar chromatographic and electrophoretic profiles to human haemoglobin A1, was measured after the induction of diabetes by streptozotocin and its cure by syngeneic intraportal islet transplantation. Fast haemoglobin was increased in 12 diabetic rats compared with 22 controls (15.8 +/- 0.8 versus 8.2 +/- 0.3%, mean +/- SEM). In a group with mild diabetes (n = 8, blood glucose less than 22 mmol/l), fast haemoglobin rose to 13.7 +/- 1.0% by week 8. In a group with severe diabetes (n = 4, blood glucose greater than 22 mmol/l), fast haemoglobin rose more quickly (in 3 weeks) to a higher level (18.2 +/- 3.3%) and changed little thereafter. This suggests a saturable system in which the rate of increase and final value depend upon the degree of hyperglycaemia. After islet transplantation, fast haemoglobin returned to normal in 4 weeks (n = 5, 17.6 +/- 1.4 to 9.4 +/- 0.9%). This delay is shorter than expected from the red cell lifespan (around 60 days), suggesting that haemoglobin glycosylation may be partly reversible. These results suggest that in unstable diabetes the interpretation of haemoglobin A1 levels is not as simple as was supposed previously.

[Heterozygote thalassemias screening. Contribution of data analysis methods (author's transl)]. / Le dépistage des thalassémies hétérozygotes. Apport de méthodes d'analyse de données.

In order to reduce the cost of a systematic heterozygote thalassemias screening, and using a discriminant analysis, the authors propose a pre-selection performed on the erythrocytometric data. In the present conditions of applicability, the methodology we used appears to be very efficient in the pre-screening process. An electrophoresis with the determination of hemoglobin A2 is then carried out on the pre-selected individuals as a confirmation of the diagnosis.

[The influence of blood glucose on the filtrability of red cells in diabets. Variations after connection to an artificial pancreas (author's transl)]. / Filtrabilité des hématies chez les diabétiques. Influence de la glycémie et variations après connection à un pancréas artificiel.

In 36 treated diabetics (15 with insulin, 21 with oral hypoglycaemic agents) without any detectable arterial atheromatous lesion, there was a negative correlation between the filtrability of red cells and blood glucose levels (r = - 0.60) on the one hand and, secondly, glycosylated haemoglobin levels (r = - 0.40). In 17 insulindependents diabetics connected to an artificial pancreas, normalisation of blood glucose was accompanied by a concomitant increase in the filtrability of red cells, and improvement of spontaneous platelet agregation. Good control of diabetes would thus appear to be necessary to reduce the incidence of microangiopathy.

[Study of circulating fatty globules by filtration of the serum in primary osteonecrosis of the femoral head]. / Recherche de globules graisseux circulants par filtrage du sérum au cours des ostéonécroses primitives de la tête fémorale.

The authors carried out in a group of 21 aseptic osteonecroses of the femoral head, a study of circulating fatty globules using a filtering technique on a millipore filter. 7 of these patients showed a normal lipid count, 10 had isolated increases of the prebetalipoproteins, 2 had a type IV hyperlipemia, 1 a type III hyperlipemia, and 1 a global hypolipemia. In all cases, no fatty globules were found. Decreases in the level of triglycerides and prebetalipoproteins were noted after filtering but the differences were not significant. These observations do not add support to the theory of fatty microembolism of aseptic osteonecrosis of the femoral head.

[Blood concentration in glycosylated hemoglobin. Index in diabetic control time (author's transl)]. / Concentration sanguine en hémoglobine glycosylée (A1c) Indice du contrôle du diabète dans le mois précédent.

To estimate during which period of time the degree of diabetes control is integrated by the level of glycosylated hemoglobin two approachs were used. Hb-g was assayed by cellulose acetate electrophoresis in insulin-dependent diabetics and compared to the degree of control over a 3 months period. Control was evaluated by the semiquantitative urine test for sugar "Clinitest" three time a day. Hb-g correlated highly with last month glycosuria, but not as well with those of the two preceding months. These later correlation in fact reflected the stability of control over the three months. In 7 incipient insulin dependent diabetics in whom normal glycaemia was achieved abruptly and maintained for more than one month, Hb-g fell to normal within one month and therefore did not reflect the prexisting hyperglycemia. Hb-g integrates precisely the degree of diabetes control, but over a one month period only.