Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.

The most common cause for severe cases of hemophilia A is the homologous recombination involving intron 22 and related sequences outside the F8 gene. F8 coding regions of the gene including the exon/intron junctions were sequenced in 10 Turkish hemophilia A patients all of whom have been typed negative for intron 22 inversion and who did not have a detectable change by DGGE analysis. Pathological changes including two novel deletions (c.

Inhibitor screening for patients with hemophilia in Turkey.

Development of factor VIII inhibitors remains the most serious and life-threatening complication of hemophilia therapy. The aim of this study was to determine the prevalence of inhibitor development in Turkish patients with hemophilia. Totally 1226 patients were screened [HA: 1057, HB: 105, von Willebrand's disease (vWD): 64].

Chronic lymphocytic leukemia in Turkey: experience of a single center in Istanbul.

Background: In this study, the clinical characteristics, survival, and prognostic factors of 200 patients diagnosed as having chronic lymphocytic leukemia (CLL) were analyzed.

Methods: The medical charts of 200 CLL patients registered to our center between 1984 and 2000 were retrospectively evaluated.

Results: Of all patients, 129 were men and 71 were women (male/female ratio, 1.

T-cell-rich B-cell lymphoma: a clinicopathologic study of 21 cases and comparison with 43 cases of diffuse large B-cell lymphoma.

Clinicopathologic features of 21 patients with T-cell-rich B-cell lymphoma (TCRBCL) were reviewed and compared to 43 patients with diffuse large B-cell lymphoma (DLBCL) to determine if there were distinguishing clinical characteristics and differences in response or survival to CHOP therapy. For the diagnosis of TCRBCL, the current WHO criteria was used. In all of our cases, the majority of cells are non-neoplastic T cells and <10% large neoplastic B cells are present.

Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.

Heterogeneous mutations in the coagulation factor IX (FIX) gene result in a bleeding tendency known as haemophilia B. The haemophilia B mutation database has a total of 2353 patient entries, including 10 of the estimated 1000 Turkish patients. In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients.