Utility and importance of accurate Hb A2 measurements for defining a strategy for β-thalassemia screening: experience in the Balearic Islands, Spain.

The high heterogeneity in regional profiles of β-thalassemia (β-thal) mutations highlights the need for population-specific carrier detection strategies. Our aim was to analyze the relationship between hematological values and β(0) and β(+) mutations in 154 Balearic β-thal heterozygotes, in order to establish the most optimized mutation carrier detection strategy to be used to manage the disease in our population. The Hb A2 level was the best parameter for discriminating between both types of carriers.

Effect of co-inheritance of β-thalassemia and hemochromatosis mutations on iron overload.

Co-inheritance of mutations in the HFE gene underlying hereditary hemocromatosis (HH) may play a role in the variability of iron status in patients with β-thalassemia (β-thal) minor. Different studies have yielded conflicting results: some suggest iron overload might arise from the interaction of the β-thal trait with homozygosity or even heterozygosity for HFE mutations and others that it was unrelated to the HFE genotype. Because of the high frequency of HFE mutations in the Balearic Islands, where the β-thal trait is also moderately common, it is of interest to evaluate the effect of the co-inheritance of mutations in both genes on the severity of iron loading.

Telomere shortening in sleep apnea syndrome.

Background: Telomere length (TL) in circulating leukocytes relates to the chronological age of the individual but it is believed to reflect also the cumulative burden of oxidative stress and inflammation over the life-time. Shortening of TL has been reported in several chronic conditions characterized by oxidative stress and inflammation, such as diabetes and atherosclerosis. Because these conditions also occur in patients with Obstructive Sleep Apnea Syndrome (OSAS), we hypothesized that TL would be reduced in patients with OSAS.

Apoptosis of Jurkat cells induced by serum of patients with acute severe brain injury.

Objective: To investigate the capacity of serum samples draining from the neuronal lesions to induce apoptosis of the lymphoid Jurkat cells in vitro and to analyze whether this effect is related to patient outcome.

Design And Setting: Prospective clinical investigation in a 21-bed intensive care unit (ICU) in a university hospital.

Patients: Forty-two patients who had suffered from acute brain injury (traumatic brain injury or spontaneous intracranial hemorrhage) requiring intensive care.

Induction of cell death by sera from patients with acute brain injury as a mechanism of production of autoantibodies.

Objective: To investigate the capacity of blood draining from the central nervous system of patients with acute brain injury to induce cell death, and to determine whether this phenomenon could be a way to induce the production of autoantibodies.

Methods: The induction of cell death of several human leukemia cell lines cultured in vitro in the presence of serum collected from the brain or the systemic circulation of patients with acute brain injury was analyzed by flow cytometry after staining with annexin V and propidium iodide. The percentages of apoptotic lymphocytes derived directly from the patients were also quantified.