Determinants of pulmonary hypertension in patients with Beta-thalassemia major and normal ventricular function.

Background/aims: We sought to define the incidence and predictive factors of pulmonary hypertension in β-thalassemia major.

Methods: We studied 27 consecutive patients (19 male, 38 ± 9 years of age) with β-thalassemia major. All the patients had normal (left and right) ventricular (systolic and diastolic) function and underwent echocardiographic assessment of pulmonary artery systolic pressure.

Rheumatoid arthritis in patients with hemoglobinopathies.

Rheumatoid arthritis (RA) in patients suffering from hemoglobinopathies is an important clinical problem, but the correlation between these diseases is still imperfectly known. The aim of this study was to analyze the clinical, serological and radiological characteristics of RA occurring in patients with hemoglobinopathies (thalassemia major, thalassemia intermedia and sickle-cell disease). In a single institution, in an adult cohort of 90 patients with hemoglobinopathies, we investigated retrospectively medical records of the patients.

Polo-like kinase 2 (SNK/PLK2) is a novel epigenetically regulated gene in acute myeloid leukemia and myelodysplastic syndromes: genetic and epigenetic interactions.

Polo-like kinase 2 (SNK/PLK2), a transcriptional target for wild-type p53 and is hypermethylated in a high percentage of multiple myeloma and B cell lymphomas patients. Given these data, we sought to study the methylation status of the specific gene in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), and to correlate it with clinical and genetic features. Using methylation-specific PCR MSP, we analyzed the methylation profile of 45 cases of AML and 43 cases of MDS.

Study of specific genetic and epigenetic variables in multiple myeloma.

Few studies have examined the association between methylenetetrahydrofolate reductase (MTHFR) SNPs, epigenetic changes, and multiple myeloma (MM). We wished to determine genotype distributions for MTHFR 1298AC SNP in cases of MM and healthy controls and to examine whether there is any correlation between the methylation status of the CpG island of CDKN2A and Snk/Plk2 and MTHFR genotypes and with overall survival (OS) and other relevant clinical parameters. Bone marrow and peripheral blood were obtained from 45 patients with MM and 77 controls, respectively.