Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Alpha thalassemia is the most prevalent monogenic gene disorder in the world, especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, the effects of missense mutations on the protein function and also stability were evaluated in a large cohort study. A total of 1,560 subjects were enrolled in the study and divided into two groups: 259 normal subjects; and 1301 alpha-thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing. The effects of single nucleotide change on the protein function and stability were predicted by freely available databases of human polymorphisms. Sixty-three different genotypes were seen in the patients. The more prevalent was heterozygote form of -α3.7 (41.4%) followed by -α3.7 homozygote (11.6%) and -MED (3.8%). The significant differences were seen in mean hemoglobin level [F = 20.5, p < 0.001] between the Alpha-globin genotypes, when adjusted for gender. Moreover, 28 different mutations were found in our study. A significant relationship was seen between ethnicity and the alpha-globin mutation frequency χ2 (df;8) = 38.36, p < 0.0001). Different genotypes could display as different phenotypes. The mutation frequency distributions in our region are different from those of other parts of Iran. Significant differences are seen in the spectrum of mutation frequency among various ethnicities. Finally, some missense mutations might not have considerable effect on the proteins, and they could be neutral mutations.

Cutaneous leishmaniasis: an epidemiological study in southwest of Iran.

The current study was aimed to evaluate the frequency and epidemiological aspects of cutaneous leishmaniasis (CL) in the southwest of Iran, an endemic focus for the leishmaniasis from 2014 to 2017. In the present retrospective cross-sectional study, all suspicious CL persons who were referred to health centers affiliated to Abadan School of Medical Sciences (Abadan and Khorramshahr cities) were tested. In this regard, both clinical and parasitological (staining with Giemsa) verifications were performed to diagnose a case. Furthermore, a structured questionnaire containing some demographic details was applied for each positive patient. In total, 151 and 132 positive CL cases were identified in Abadan and Khorramshahr cities, respectively. More frequency of CL was observed during the Winter season, among male subjects, and in urban inhabitants in both cities. The incidence of CL based on age distribution was higher in the age range of 20-30 years than others. Besides, the hands and feet were the most involved organs. Although the frequency of CL has declined in the region, CL is still a public health problem. More appropriate control strategies are required to limit and eliminate the infection in the future.