Congenital dyserythropoietic anemia type I. Report of a case.

A new case of congenital dyserythropoietic anemia type I is reported in a 12-year-old Spanish boy. In regard to the morphological study at an optical and ultrastructural level, the most outstanding feature was the internuclear bridging connecting two erythroblastic nuclei within a single cytoplasm or stretched between two erythroblasts perfectly individualized.

[Macrocytosis in chronic alcoholism (author's transl)]. / Macrocitosis en el alcoholismo crónico.

The present study reported a group of 168 chronically alcoholic patients with a daily ingestion superior to 80 grams. Twenty of these patients (10 percent) did not have liver disease, and 148 (68.5 percent) had different forms of liver disease classified by histopathologic examination. Considering a 97 fi MCV as macrocytosis, we have found in the group of alcoholics without hepatopathy a 50 percent rate of macrocythemia with a mean value of 97.9 fl. In the group of chronic alcoholics with liver disease there was a 64.2 percent macrocytosis with a mean value of 100 fl. We have also studied 43 (21.5 percent) patients with cryptogenetic cirrhosis with a 32.6 percent macrocytosis and a mean value of 93.9 fl. With respect to the alcoholic hepatopathy subgroups, macrocytosis is more frequent in portal fibrosis and acute alcoholic hepatitis, the mean value being higher in the latter. We consider macrocytosis to be frequent among alcoholics, and a good persistence indicator of alcoholic ingestion, pathogenically linked to the now proven dyserythropoietic factor of the alcohol upon the bone marrow. There is no statistically significant correlation between anemia and reticulocytes. We consider macrocytosis to be a more precocious data, and believe that the positive correlation with certain intraerythrocitary enzymes in the juvenile population of red cells corroborates this fact. With respect to the rest of parameters studied there was a correlation with gammaglutamiltranspeptidase, glutamic-oxalacetic transaminase, and the value of prothrombin. The values of mean macrocytosis and elevations of gammaglutamiltranspeptidase and glutamic-oxalacetic transaminase are good persistence indicators of alcoholic ingestion.

Glucose-phosphate isomerase deficiency due to a new variant (GP I Barcelona) and to a silent gene: biochemical, immunological and genetic studies.

A 12-year-old girl of Spanish origin was found to be double heterozygote for a deficient GP I variant (GP I Barcelona) and for a silent GP I gene. The mother was heterozygote for GP I Barcelona and the father was heterozygote for the silent gene. GP I Barcelona was a fast variant (116%) with an increased isoelectric point (9.55), lability to heat and to urea, and shift of the pH curve towards the acidic pH. The other kinetic characteristics were normal. The ratio of enzymatic activity to immunological reactivity was normal in erythrocytes and white blood cells of the father and the mother but decreased to 75% of normal in blood cells of the daughter. The genetic and molecular mechanisms of GP I deficiency of this patient are discussed.