[Modern approaches to treatment of thrombosis in pregnant women, carriers of hereditary anomalies--F-V-Leiden and G20210A mutation].

AIM OF INVESTIGATION: studying of efficiency low-molecular heparin for preventive maintenance and treatment of thromboembolic disorders in pregnant women, carriers of F-V- L and F-II-20210 G-A mutation. Under supervision, there were 27 women with thrombosis during pregnancy from 19 to 39 years old. The lower extremities veins thromboses was diagnosed by duplex sonography. F-V- Leiden, F-II-20210 G-A and MTHFR C 677T gene mutation was defined by PCR-PELP method. To all pregnant women Fraxiparin and vitamins of B group was appointed during pregnancy period; at presence of MTHFR a folic acid was appointed in addition. It is concluded that application of Fraxiparin is an effective method of treatment of thrombosis during pregnancy and women--carriers F-V- Leiden, F-II-20210 G-A and MTHFR C 677T gene mutation. High efficiency of Fraxiparin confirms with change of parameters of various parts of a hemostasis and return development of thrombosis evidence.

[Heterozygote carrier state of hemoglobin S in Azerbaijan]. / Geterozigotnoe nositel'stvo gemoglobina S v Azerbaidzhane.

Clinico-hematological characteristics of 123 HbS heterozygotes have been presented. A total of 16 subjects with the level of HbS less than 30% were detected. Intraerythrocytic inclusions observed in single cells, as well as a significant decrease in the mean hemoglobin level, ESR and mean cell hemoglobin denote the presence of concomitant alpha-thalassemia-I in this group of heterozygotes. A comparative evaluation of phenotypic manifestations depending on HbS level has been presented. It is shown that shifts in the relative content of HbS lead to the widening of the borders of phenotypic manifestations.

[The clinico-morphological characteristics of synovial membrane involvement in beta-thalassemia]. / Kliniko-morfologicheskaia kharakteristika porazheniia sinovial'noi obolochki pri beta-talassemii.

Using data on optic and electron microscopy the authors give characteristics of lesions in the synovial membrane of the knee joints in 6 patients with an intermediary form of beta-thalassemia. Multiple reduplication of the basal membrane was noted in all the vessels, the width of the noncellular component of the vessels increased several times and its stratification was clearly seen. Deposits of iron oxide were revealed in biopsy samples of the synovial membrane of all the patients. Those deposits were in the form of microgranular intracellular inclusions in phagocytosing cells of the superficial stroma of villi but more often they were found in the cytoplasm of the vessel cells and pericytes.

[DNA diagnosis of beta-thalassemia. Study of restriction fragment length polymorphisms in families with affected children]. / DNK-diagnostika beta-talassemii. Issledovanie PDRF v sem'iakh s porazhennym rebenkom.

A kit of DNA-probes directed at the cluster of human beta-globulin genes was used to study the incidence rate of 7 polymorphic restriction sites in beta-thalassemia patients and normal donors in the Azerbaijan SSR. Informative polymorphic sites Hind III were detected in GJ and AJ fetal globin genes, Hinc II in psi beta and Hinc III in 3' area of psi beta gene and Ava II in beta-globine gene differing in the incidence rate in the patients and donors. An analysis of haplotypes with respect to informative sites was made in two Azerbaijan families with an affected child. It has been found that the analysis with respect to one informative site is sufficient for prenatal diagnosis of the status of the following children.

Molecular nature of mutations causing beta zero-thalassaemia in Azerbaijan.

Beta zero-thalassaemia comprises a series of closely related haemoglobinopathies which are widely spread in some areas (the Mediterranean, Caucasus, Central Asia, and others). It is caused by a variety of mutations in the beta-globin gene which damage its expression, thus leading to severe illness, which is often lethal at an early age. By means of the polymerase chain reaction (PCR), restriction analysis, and sequencing by the Maxam-Gilbert method, we have identified a number of mutations in the beta-globin gene that cause beta zero-thalassaemia in the Azerbaijanian population, viz AA deletion in codon 8, C----T transition in codon 39, and a previously unknown G deletion in codons 82/83.

[Reproductive compensation in the mothers of patients with homozygous beta-thalassemia]. / Reproduktivnaia kompensatsiia u zhenshchin-materei bol'nykh s gomozigotnoi beta-talassemiei.

The results of examination of fertility of 74 females, residents of Kutcashen and Vartashen districts of Azerbaijan, are presented. The data obtained have shown an increased fertility in females with beta-thalassemia. The value for fertility of the total everborn for mothers with beta-thalassemia is 1.25. These findings indicate that there is some degree of reproductive compensation in families segregating for homozygous beta-thalassemia. The authors conclude that beta-thalassemia gene is maintained in this population at higher values (15,83%), due to the higher fertility of the heterozygous mothers.

[Molecular causes of thalassemia. III. Molecular genetic variants of beta-thalassemia in Azerbaijan]. / Izuchenie molekuliarnykh prichin talassemii. Soobshchenie III. Molekuliarno-geneticheskie varianty beta-talassemii v Azerbaidzhane.

Twelve patients with homozygous beta-thalassemia from Azerbaijan are described. From biosynthetic studies, we have established that seven children had beta +-thalassemia, while five had beta 0-thalassemia. In six patients with beta +-thalassemia a close correlation has been found between alpha/beta globin chain synthesis and alpha/beta mRNA content determined by molecular hybridization. In one case of beta +-thalassemia no such correlation has been observed. It was possible to study nuclear and cytoplasmic RNA from spleen erythroid cells in one of the patients. alpha/beta globin RNA ratio was 5 in both cases, suggesting the possibility of a defect in beta-globin gene transcription. In cases of beta 0-thalassemia, heterogeneity of the relative content of beta-globin mRNA was revealed: either it is found in considerable amounts, or it is completely absent. Mapping of DNA from two beta-thalassemic patients by restriction enzymes yielded a normal pattern for the beta-globin gene region.