[The detection of beta-thalassemia minor (author's transl)]. / Le dépistage de la beta-thalassémie mineure.

A statistical analysis was done on the levels of Hb A2 and Hb F in 1 340 normal subjects and 356 subjects heterozygous for beta-thalassemia. This study revealed that both groups had a normal distribution of Hb A2 and a gaussologarithmic distribution of Hb F. The plotted curves show an overlapping zone between the two populations. This area lies between 3.0% and 3.5% Hb A2 and between 0.2% and 1.0% Hb F. More than 97% of the heterozygotes for beta-thalassemia have a Hb A2 level situated outside the overlapping region, which permits diagnosis. Of the remaining 3%, only the "silent carriers" do not manifest the usual hematological characteristics of beta-thalassemia minor (hypochromia, microcytosis, diminished osmotic fragility, and erythrocytes with basophilic stippling). To diagnose this group it is necessary to determine globulin chain synthesis. This test is reserved for those subjects considered as "high risks."

[Hemoglobin D Punjab. Apropos of 2 families]. / Hémoglobine DPunjab. A propos de deux familles.

Two families who are carriers of hemoglobin DPunjab in the heterozygous state are described. This is the first time hemoglobin DPunjab has been reported in Switzerland. The propositus of the first family had two periods of acute hemolysis, probably drug-induced, which were followed by reversible renal complications and which led to the discovery of the hemoglobin. Study of the second family was undertaken because of anemia in one of its members.

Hereditary myeloperoxidase deficiency.

The functional properties of granulocytes in a diabetic patient deficient in myeloperoxidase (MPO) were compared with those of granulocytes in healthy subjects. The granulocytes of this patient had normal phagocytic activity. The microbicidal activity of the granulocytes was partially diminished with regard to Staphylococcus aureus and was almost nil with regard to Candida albicans. Fungicidal activity of normal granulocytes was shown to be impaired during the in vitro artificial hyperglycemic condition. The relationship among diabetes mellitus, MPO deficiency, and serious C. albicans infection was examined. Genetic investigation was carried out in 28 members of the proband's family. In close relatives of the patient, MPO values were found to be diminshed to a greater or lesser degree, thus suggesting variable expressivity of the heterozygote state of MPO deficiency.

[Haemoglobinosis C/beta-thalassemia double heterozygosity in an Algerian patient with total suppression of haemoglobin A synthesis (author's transl)]. / Double hétérozygotie hémoglobine C/bêta-thalassémie chez un algérien présentant une suppression totale de la synthèse de l'hémoglobine A.

The authors describe the case of a young Algerian, aged 32, suffering from mild icterus, accompanied by a marked splenomegaly. The blood count revealed a moderate degree of anaemia with reticulocytosis, pronounced anisocytosis, micro-spherocytes, bulls eye cells, folded cells, hypochrome cells, a marked polychromasia and a mild erythroblastosis. Present also were hyperbilirubinaemia, raised plasma haemoglobin, zero haptoglobin, a reduced osmotic fragility and half-life of erythrocytes. Haemoglobin electrophoresis showed 17.25% haemoglobin F, 62.8% haemoglobin C+A2 and no haemoglobin A. The genetic study indicated that the patient was a double heterozygote C/beta thalassaemia, his mother and his son both suffering from this disease. This thalassemic gene of type beta (0) totally inhibited the synthesis of haemoglobin A, the defect found in our patient.

[Hereditary myeloperoxidase deficiency. Clinical, biological and genetic study]. / Déficience héréditaire en myéloperoxydase.

A case is reported of hereditary myeloperoxidase deficiency in a diabetic patient suffering from a Candida albicans hepatic abscess. Myeloperoxidase (MPO) is completely absent from the neutrophils and monocytes, although it is present in the eosinophils. Functional granulocyte studies have revealed normalchemotactic and phagocytic activity, although the bacterial activity is partially diminished with regard to Staphylococcus aureus and is almost nil with regard to Candida albicans. The granulocytic metabolism, when stimulated by zymosan, is characterized by greatly increased oxygen consumption. Genetic investigations have been conducted in 28 members of the patient's family. Cyto- and biochemical determination of MPO is clearly diminished in close relatives of the patient. Genetic analysis indicates recessive autosomal transmission with variable expressivity of the gene for the heterozygote state.

[Retinopathy in the course of a homozygous haemoglobinopathy (author's transl)]. / Retinopathie im Verlauf einer homozygoten Hämoglobin-C-Krankheit.

Fundus examination of a young African female affected with acute benign unilateral iridocyclitis showed lesions similar to those of sickle cell disease. She had a homozygous C/C hemoglobinosis, which was previously unknown. Certain hematological lesions confirmed the pathogenesis of these pathological entities in absence of sickle cell formation.

[Quantitative Coombs' test in autoimmune hemolytic anemia]. / Test de Coombs quantitatif dans l'anémie auto-immunohémolytique

The detection of iso- and autoantibodies to red cells and complement on the surface of erythrocytes has been studied in a continuous flow system using a single channel autoanalyzer. A macromolecule, polyvinyl pyrrolidone, is added to the washed cells in order to increase their aggregability. With this system it is possible to establish a direct relationship between the quantity of antibodies present on the surface of the cells and the red cells agglutinated by an antiglobulin serum. By this method it is possible to evaluate the degree of autoantibody coating of erythrocytes in autoimmune hemolytic anemia, and to adjust therapy accordingly.