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Previous studies have shown that patients with sickle cell disease (SCD) are at high risk for obstructive sleep apnea (OSA). In the current study, we aimed to systematically review the literature to address the prevalence of OSA and associated symptoms among patients with SCD. Electronic databases, including Web of Science, Scopus, PubMed, Google Scholar, and Embase were systematically searched to identify the relevant original articles on patients with SCD. Newcastle Ottawa scale was used for quality assessment. Data were pooled by using random effects models. Subgroup analyses were performed by age groups. Thirty-nine studies containing details of 299,358 patients with SCD were included. The pooled results showed that more than half of these patients had OSA with different severities. The prevalence rates of OSA among children with apnea hypopnea index (AHI) cutoffs of above 1, 1.5, and 5 were 51% (95% confidence interval (CI) 36–67%), 29% (95% CI 19–40%), and 18% (95% CI 14–23%), respectively. The prevalence of OSA among adults with AHI cutoff of 5 was 43% (95% CI 21–64%). The pooled rates of snoring, nocturnal enuresis, nocturnal desaturation, and daytime sleepiness were 55% (95% CI 42–69%), 37% (95% CI 33–41%), 49% (95% CI 26–72%), and 21% (95% CI 12–30%), respectively. Given the high prevalence of OSA in patients with SCD, probable greater burden of SCD complications, and irreversible consequences of OSA, screening for OSA symptoms and signs seems useful in these patients. By screening and identifying this heterogeneous disorder earlier, available treatment modalities can be individualized for each patient. [ABSTRACT FROM AUTHOR]

Hydroxyurea (HU) activates the γ-globin gene, resulting in increased Hb F synthesis. The SOX6 gene is a member of the Sox (Sry-type HMG box) family of transcription factors, characterized by minor groove binding domain. The DNA binding domain of this gene is encoded by exon 14. We assessed the relationship between response to HU and exon 14 of the SOX6 gene sequence variations in patients with non transfusion-dependent thalassemia (NTDT). One hundred NTDT patients from southern Iran underwent HU therapy randomly participated in this cross-sectional study between February 2013 and October 2014. Based on response to HU therapy, the patients were divided into two groups: good and poor responder. Sequence variations of exon 14 of the SOX6 gene was assayed by the Sanger sequencing technique. From all evaluated single nucleotide polymorphisms (SNPs) as above, we found no significant association between sequence variations of exon 14 of the SOX6 gene and response to HU therapy (p > 0.05). It seems that no SNPs in exon 14 of the SOX6 gene is associated with response to HU in NTDT patients, but more studies are needed for further evaluation. [ABSTRACT FROM AUTHOR]

Preventing the birth of children with β-thalassemia major (β-TM) is an important health issue. We investigated family planning practices and related factors among families with affected children. We selected a total of 569 parents from the parents of patients with β-TM who were registered at thalassemia referral clinics in southern Iran. Information was recorded regarding demographic variables, socioeconomic status and family planning practices. The correlations between family planning practice and related factors were evaluated. Approximately 96.0% of the parents (546) were practicing contraception at the time of the study. Only 12.8% of the families whose first child had β-TM decided to have no more children. The most frequent contraceptive method was tubal ligation (TL) (37.5%) followed by oral contraceptive pills (OCP) (31.5%). Higher education level of the mothers and higher economic status of the families were found to be related with the lower numbers of children with β-TM ( p = 0.001). We found a high percentage of safe contraception being used by at-risk couples. It seems that educational programs have been effective in influencing family planning practices. Further attention should be devoted to increasing the knowledge of at-risk couples with a greater focus on parents of low socioeconomic status. Because of cultural factors in Iran, many of these at-risk couples opted to achieve the desired family size, so implementation of a well-organized prenatal diagnostic system seems necessary. [ABSTRACT FROM AUTHOR]

Because of insufficient erythropoiesis, peripheral hemolysis and increased gastrointestinal iron absorption, iron overload is still a matter of debate in β-thalassemia intermedia (β-TI) patients, which can be overcome using iron chelators. However, data on use of iron chelators in β-TI patients is highly restricted. The aim of this study was to evaluate the efficacy of oral administration of deferasirox (Exjade® or DFX) by assessment of serum ferritin levels in β-TI patients. In this quasi-experimental study, 50 β-TI patients with serum ferritin levels >1000 ng/mL were selected and received oral DFX for 12 consecutive months. Iron overload was measured by checking serum ferritin levels every 2 months and the results were compared with the baseline level. The mean serum ferritin was decreased during 1 year of chelation therapy without any toxic effect. Although the difference between baseline ferritin and ferritin levels at the end of second month was not remarkable (p = 0.88), a significant reduction in serum ferritin was observed after 4 (p = 0.01), 6 (p = 0.001), 8 (p < 0.001), 10 (p < 0.001) and 12 months (p < 0.001) of chelation therapy compared to its baseline levels. There was no correlation between baseline ferritin levels and age (p = 0.574). In addition, no statistically significant difference was observed about change in serum ferritin levels after 6 and also 12 months of therapy between patients who had undergone splenectomy and those who did not (p = 0.796 and 0.859, respectively). Iron chelation therapy with DFX is safe and effective in reducing serum ferritin levels in β-TI patients who suffer from side effects of iron overload. [ABSTRACT FROM AUTHOR]