[Primary myelodysplastic syndrome in children].

Primary MDS is a group of heterogenous clonal haematopoetic disorders. In a third of patients MDS terminates as acute myeloid leukaemia, usually resisitant to treatment, while the others succumb due to infections and haemorrhage. Conservative managements of MDS (chemotherapy, haematopoetic growth factors, modulation of cytokine network) are unsuccessful, while the bone marrow transplantation is the only definite treatment.

Severe central nervous system thrombotic events in hemoglobin Sabine patient.

Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG --> CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype.

Non-Hodgkin's lymphoma of the uterus and CNS.

We report a case of a non-Hodgkin's lymphoma of the uterus and central nervous system in an 8-year-old female. The neurologic signs included blurred vision, neck stiffness, and walking difficulties but no abdominal problems. She deteriorated further, and repeated lumbar punctures revealed the presence of malignant cells in the cerebrospinal fluid.

Hb Volga [beta 27(B9)Ala-->Asp]: detection of a de novo mutation by Ava II digestion of PCR-amplified DNA.

Hb Volga was observed as a de novo mutation in a 5-year-old boy from Tuzla, Bosnia and Hercegovina, who exhibited severe Heinz body hemolytic anemia. The variant was detected and quantitated at 10.6% by a reversed phase high performance liquid chromatography (HPLC) procedure.

A specific, fluorescent activity staining procedure applied to plasma and red blood cells in congenital factor XIII deficiency.

The activity staining procedure introduced by Stenberg & Stenflo (1979) has been applied to studies on human blood transamidases (transglutaminases; endo-gamma-glutamine:epsilon-lysine transferases; e.g. factor XIII).

[Immunoelectrophoretic method for the determination of factor VIII-related antigens].

Immunological examination of F VIII related antigen gave some new information on the nature of congenital defects of F VIII, in haemophilia A and von Willenrand's disease. Besides classic method in diagnostics of von Willebrand's disease, the determination of F VIII related antigen can be used as a diagnostic criterium in distinguishing von Willebrand's disease from some mild forms of haemophilis, as well as in detection of haemophilia carrier. In addition, the study on the relationship of immunological value of F VIII related antigen and biological activity of F VIII offers more data on the possibility of detection of so-called "hypercoagulability" and states proceeding thrombosis.

[Diagnosis of von Willebrand's disease].

Diagnosis and differential diagnosis of von Willebrand's disease was a special problem. Criteria up to date: prolonged bleeding time, reduced platelet adhesiveness, decreased F. VIII coagulant activity, as well as a particularly behaviour after the infusion of F.