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.

Effect of Progesterone on Expression of MMP7 and MMP13 in Lungs of Female Mice.

Gender medicine is a new era of science which focuses on the impact of sex hormones and gender on normal physiology, pathobiology and clinical features of diseases. In this study we investigated the impact of pregnancy doses of progesterone hormone on the expression of a couple of matrix metalloproteinase (MMPs), which are known to be involved in tissue remodeling of lungs in health and disease, namely MMP7 and 13. Pregnancy maintenance dose of progesterone was administered to female BALB/c mice for 21 and 28 days, the control group received PBS for the same days. After removal of the lungs and RNA extraction, quantitative real-time PCR was done using specific primers for MMP7 and MMP13. We found that progesterone can slightly (not significantly) decrease the expression of MMP13 but had no effect on MMP7. Our results shows that progesterone has minimal effect on the expression of matrix metalloproteinase7 and matrix metalloproteinase 13, but it may still have an effect on corresponding tissue inhibitor of matrix metalloproteinases (TIMPs) or other components of the Extracellular matrix  which remains to be elucidated. Also, the effect of progesterone on these MMPs can be further studied in a fibrosis model.