An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.

Background: Alpha thalassemia is one of the most common hereditary hemoglobin disorders worldwide, particularly in the Middle East, including Iran. Therefore, determining the spectrum and distribution of alpha thalassemia mutation is a fundamental component of preventive approaches and management strategies. Methods: The present study reviews the genetic testing and blood laboratory results of 455 candidates eligible for marriage who were suspected of being thalassemia carriers and on whom genetic testing was performed from 21 March 2013 to 31 December 2020 in Rasht City. Results: A total of 114 (25.05%) alpha thalassemia cases were identified. Fifteen different alpha mutations were found. The most common mutation among the study population was -α3.7 deletion in 55 patients (48.24%), followed by Hb Constant Spring (C.S) in 21 patients (18.42%) and poly A2 in 16 (14.03%). Also, most of the patients were silent carriers. The deletion type of mutation was much more common than non-deletion mutations. Conclusion: Our study reveals genetic heterogeneity and alpha thalassemia diversity among the Rasht City population. We expect that these findings will help guide premarital screening and genetic counseling, prenatal diagnosis of thalassemia, preventive strategy development, as well as a compilation of the alpha thalassemia catalog in Guilan province.

Selective serotonin reuptake inhibitors and inflammatory bowel disease; Beneficial or malpractice.

IBD, a chronic inflammatory disease, has been manifested as a growing health problem. No Crohn's and Colitis councils have officially ratified anti-depressants as a routine regimen for IBD patients. However, some physicians empirically prescribe them to rectify functional bowel consequences such as pain and alleviate psychiatric comorbidities. On the other side, SSRIs' prescription is accompanied by adverse effects such as sleep disturbances. Prolonged intermittent hypoxia throughout sleep disturbance such as sleep apnea provokes periodic reductions in the partial oxygen pressure gradient in the gut lumen. It promotes gut microbiota to dysbiosis, which induces intestinal inflammation. This phenomenon and evidence representing the higher amount of serotonin associated with Crohn's disease challenged our previous knowledge. Can SSRIs worsen the IBD course? Evidence answered the question with the claim on anti-inflammatory properties (central and peripheral) of SSRIs and illuminated the other substantial elements (compared to serotonin elevation) responsible for IBD pathogenesis. However, later clinical evidence was not all in favor of the benefits of SSRIs. Hence, in this review, the molecular mechanisms and clinical evidence are scrutinized and integrated to clarify the interfering molecular mechanism justifying both supporting and disproving clinical evidence. Biphasic dose-dependent serotonin behavior accompanying SSRI shifting function when used up for the long-term can be assumed as the parameters leading to IBD patients' adverse outcomes. Despite more research being needed to elucidate the effect of SSRI consumption in IBD patients, periodic prescriptions of SSRIs at monthly intervals can be recommended.