2020 Impact Factor: 1.429
2020 CiteScore: 2.1
Chairman & Editor-in-Chief:
Dariush D. Farhud, MD, Ph.D., MG.
Vol 49 No 4 (2020)
Background: The present systematic review and meta-analysis were conducted to find the degree by which the Iranian diabetic patients were informed about their disease in term of health literacy.
Methods: The search was carried out in databases including the PubMed, MEDLINE (PubMed), Scopus, Embase, Cochrane Library, ProQuest, Web of Science, Science Direct and Wiley and also domestic databases including the Iranian Academic Center for Education Culture and Research (sid.ir), the Iranian Research Institute for Information Science and Technology (IranDoc.ac.ir), Barakat Knowledge Network System (barakatkns.com), the national publications database (magiran.com) and also Google Scholar and Elmnet search engines. All the original studies published by Oct 20, 2018, in Persian or English, to assess the health literacy of adults with diabetes were included in the study. Ultimately, 17 articles were included in the meta-analysis. The meta-analysis was carried out using the fixed-effects method using Stata-11.2.
Results: The pooled mean score of health literacy was 56.65 out of score of 100, and its 95% CI was estimated as 49.85 to 63.45. No significant heterogeneity could be reported for the articles included in the meta-analysis (I-squared=21.3%, P=0.177). The pooled mean scores with the CI of 95% by gender based on the study population in women and men were estimated as 47.97and 50.06 respectively.
Conclusion: Health literacy is not high in Iranian diabetic patients and is rather inadequate in most of them in both genders. Diabetic women have somewhat lower health literacy compared to diabetic men.
Background: Periodic medical examinations of radiation workers are routinely conducted in many countries. Although low dose radiation (LDR) is not expected to cause a significant effect on blood count, the periodic examination usually includes reviewing the work history, general medical history, a physical examination and collecting a blood sample. Despite lymphocytes are the most sensitive cells to radiation, their counts do not show any significant change as long as the radiation level is less than a few hundreds of millisievert (mSv). In spite of this, in Iran, radiation workers, even those who work in diagnostic radiology departments, are regularly examined for blood count changes.
Methods: After a detailed search in PubMed, ISI, Scopus, SID and Google Scholar, only 12 out of 650 articles matched our criteria. A review of these 12 reports was conducted. The full texts were fully reviewed by the authors.
Results: The complete blood count (CBC) test has a very low efficacy in evaluation of the adverse health effects of ionizing radiation in radiation workers. Therefore, finding alternative methods with a higher efficacy is recommended.
Conclusion: CBC tests cannot be introduced as valid markers of potential radiation effects in most occupational exposures. Given this consideration, in periodic tests of radiation workers, cytogenetic tests can be the gold-standard method. In particular, due to its relatively low cost and good sensitivity and specificity, the dicentric assay can be promising. Moreover, the simple and rapid evaluation of micronuclei by fast automated scoring systems can be a good alternative for current low efficacy CBC tests.
Background: To investigate the association between involuntary weight loss (IWL) and late-life depression (LLD) in a population-based cohort study.
Methods: Data (N=6945) obtained from the 2008 baseline and 2011 follow-up assessments of the Living Profiles of Older People Survey in Korea were used. Changed body weight between the 2008 and 2011 was classified into stable weight (<-5% ~ <+5%), lightweight loss (≥-5% ~ <-10%), moderate weight loss (≥-10%), lightweight gain (+≥5 ~ <+10%), and moderate weight gain (≥+10%).
Results: Compared to the stable weight group, the moderate weight loss group had a higher risk of LLD (odds ratio=1.99, 95% confidence interval=1.61-2.46, P<0.001) even after adjustments for covariates, including age, BMI, education, income, life of solitude, smoking, physical activity, dependent aging, comorbidity, and cognitive function.
Conclusion: IWL is significantly associated with LLD in Korean older adults, implying the prognostic importance of IWL for presenting mental health issues later in life.
Background: To detect the levels of plasma Adipocytokines, TNF-α, IL-6 and PAI-1 in patients with intracranial and extracranial arteriosclerosis.
Methods: From September 2015 to September 2017, 318 patients aged ≥60 years were enrolled. Overall, 192 patients were included in the case group (intracranial and extracranial arteriosclerosis group). The 196 outpatients who matched the case groupware selected as the control group. The levels of plasma APN, TNF-α, IL-6 and PAI-1 were measured and their inter- and intra-group comparisons were performed using t-test or analysis of variance. Multivariate logistic regression analysis was used to study the correlation between intracranial arteriosclerosis and extracranial arteriosclerosis.
Results: The level of plasma APN in the intracranial and extracranial arteriosclerosis group was significantly lower than that in the control group (P=0.025). The plasma levels of PAI-1, TNF-α and IL-6 were obviously higher than those in the control group (P=0.003, P=0.008, P=0.043). In the intracranial arteriosclerosis group, the level of plasma APN in patients with arterial stenosis ≥70% was significantly lower than that in patients with stenosis 30%-69% (P=0.028).
Conclusion: Plasma APN, PAI-1, IL-6 and TNF-α levels can be used as monitoring indicators of intracranial and extracranial arteriosclerosis. Intracranial arteriosclerosis is significantly associated with the decrease of plasma APN level and the increase of plasma PAI- 1, IL-6 and TNF-α levels.
Background: A retrospective study was conducted to assess the mediation role of low birth weight, and low ponderal index between the preeclampsia, placenta previa, and neonatal mortality in the tertiary hospital of Hubei Province, China.
Methods: A total of 12772 neonatal births were included for data analysis. Birth weight, birth length, and neonatal mortality were recorded after birth. Sobel test based on mediation regression was used to evaluate the effect of mediator variables.
Results: Approximately, 383 (3%) and 409 (3.2%) women experienced preeclampsia and placenta previa respectively. After adjusting for covariates, the indirect effect of preeclampsia on neonatal mortality mediated by low birth weight and low ponderal index was [β 2.59 (95% CI: 0.74 – 4.44)], and [β 3.94 (95% CI: 1.50 – 6.38)] respectively. Moreover, the indirect effect of placenta previa on neonatal mortality mediated by the low birth weight was [β 1.74 (95% CI: 0.16 – 3.31)], and low ponderal index was [β 3.21 (95% CI: 0.95 – 5.48)]. The estimated mediation proportion between the preeclampsia and neonatal mortality accounting for possible mediation by low birth weight and low ponderal index was 44.5% and 34.5% respectively. Furthermore, 47.9% by low birth weight and 33.2% by low ponderal index mediate the association between placenta previa and neonatal mortality.
Conclusion: Low birth weight, and low ponderal index partially mediates the association between preeclampsia, placenta previa and neonatal mortality.
Background: Cervix, breast and colorectal cancers are included in the national population-based screening (PBS) program in Turkey. This study aimed to assess participation in PBSs for these cancers and to identify factors associated with participation in screenings in Safranbolu district of Karabuk, Turkey in 2016-2017.
Methods: In this cross-sectional study, separate studying groups for cervix, breast and colorectal cancers were identified, taking into account the target age range specified in the national screening standards. The sample size was determined to be 374 for cervical cancer, 371 for breast cancer and 373 for colorectal cancer in the Epi-Info StatCalc program with a prevalence of 50%, a 95% Confidence Interval (CI) and a 5% error margin. The results of the data collected through face-to-face interview using questionnaires were evaluated with Chi-square tests (P<0.05) and included in the binary logistic regression model.
Results: Participation in PBS at least once between 2011 and 2016 years was 26.2% for cervical cancer, 27.6% for breast cancer and 31.6% for colorectal cancer, whereas the level of PBS or opportunistic screening at least once was 51.1%, 42.7% and 32.2%, respectively. A 2.9-fold increase in participation for the cervical cancer screening was associated with informing women about cervical cancer by the family physicians. Being married and living in the district center showed associations with a higher rate of participation for colorectal cancer screening.
Conclusion: Participation in PBS was low for the 5.5-year period. More effort is needed to increase the effectiveness of the program.
Background: We aimed to explore the treatment and safety of subarachnoid hemorrhage.
Methods: A retrospective analysis was applied on 137 patients with subarachnoid hemorrhage treated in Binzhou Central Hospital, Bingzhou, China from March 2015 to October 2018. Seventy cases with interventional embolization of intracranial aneurysms were divided as the observation group, and 67 cases with craniotomy for aneurysm clipping were divided as the control group. The changes of immune globulins before and after surgery, CD4+, CD8+, NIHSS scores, BI scores, the total effective rate of subarachnoid hemorrhage, the total length of postoperative hospital stay and conditions of postoperative complications as well as 30-day survival were compared between the two groups.
Results: The levels of Ig G, Ig M, Ig A, and CD4+ after surgery in the observation group were significantly lower than those before surgery (P<0.05), but significantly higher than those in the control group (P<0.05); the total time of postoperative hospitalization in the observation group was shorter than that in the control group (P<0.05). The incidence of intracranial infection and cerebral vasospasm in the observation group was significantly lower than that in the control group (P<0.05). The NIHSS score of the observation group was significantly lower than that of the control group (P<0.05), and the BI score was significantly higher than that of the control group (P<0.05).
Conclusion: Patients with subarachnoid hemorrhage undergoing interventional embolization of aneurysms can reduce the impact on immune function, decrease the adverse reactions caused by treatments, shorten the length of hospital stay and fully improve the efficacy.
Background: Currently, China is carrying forward “Healthy China” construction. Thus, health investment has gradually become an important issue concerned by the Chinese government. Exploring the influence of health investment on economic growth under this background is of great theoretical and realistic significance for realizing economic transformation and upgrading in China.
Methods: Thirty-one provincial regions in China were selected as research objects. Based on the panel data during 2000-2017, difference-generalized method of moment (D-GMM) and system-generalized method of moment (S-GMM) were comprehensively used to estimate the dynamic panel model from the national perspective, combining the fixed effects model (FE) estimation method to estimate the static panel model from the regional perspective, so as to investigate the relationships among governmental, residential health investment, and economic growth.
Results: First, the governmental and residential health investments have positive effects on economic growth. Second, from the perspective of different regions, the governmental and residential health investments present positive correlations with economic growth, but the correlations present a progressively decreasing trend from the east to west.
Conclusion: The Chinese government needs to steadily increase governmental health investment, elevate the level of residents' health expenditure, promote the development of the health industry, and finally facilitate sustainable economic growth in China.
Background: Incidents of violence, such as school bullying, are mainly caused by excessive mental stress of students, which will also lead to all kinds of psychologically unsafe behaviors. The emotion regulation ability of students and the safety atmosphere level of campus will be considerably conducive to relieving the mental stress of students. This study aims to analyze the relationships of mental stress and regulatory emotional self-efficacy (RES) among students and campus safety atmosphere with their psychosocial safety behaviors (PSB).
Methods: A total of 120 class teachers and 365 students from three junior high schools in Henan Province, China were selected as the study objects in 2019. Then, middle school students and RES, campus safety atmosphere, and PSB scales were assessed through a mental stress scale.
Results: Mental stress (r=–0.8) of middle school students and campus safety atmosphere (r=0.86) had a significant negative and positive influence on their PSB, respectively. RES played a mediating role in the negative correlation between the mental stress of middle school students and their PSB (r=–0.57). Campus safety atmosphere could moderate the relationship between mental stress and RES (r=0.12). Campus safety atmosphere could moderate the mediating effect on the relationship between mental stress of middle school students and their PSB.
Conclusion: Mental stress of middle school students will give rise to the occurrence of their psychologically unsafe behaviors. The improvement of the campus safety atmosphere level can effectively mitigate the mental stress of students to reduce the occurrence of unsafe behaviors.
Background: Academic stress is one of the factors affecting the health of adolescents. The aim of present study was to design an academic stress questionnaire for Iranian adolescents with regard to the cultural and educational system of the country.
Methods: After reviewing the literature and identifying available tools in 2018, Iranian adolescents' views on academic stress were extracted. Similar questions have been used in other tools. According to expert opinion, the results were overviewed and the initial version was designed. The steps of content validity and instrument reliability were carried out. Internal consistency was investigated with Cronbach's alpha (α) and repeatability with Intra Class Correlation (ICC). After dividing the data into two randomized samples, exploratory factor analysis (EFA) with 899 subjects and confirmatory factor analysis (CFA) with 717 subjects were performed. The association between this tool and the Morgan and Jink’s Self Efficacy Scale and the Strengths and Diﬃculties Questionnaire questionnaires was investigated. Data were analyzed using SPSS and Mplus softwares.
Results: The Iranian Adolescent Academic Stress Questionnaire (IAASQ) was designed with 57 questions. Relevancy and clarity of the whole tool were obtained as 0.81 and 0.83, respectively. In different domains, Cronbach's alpha was in the range (0.58-0.85) and ICC (0.80 (95% CI:0.66-0.90)). In the EFA, 9 factors were extracted. CFA confirmed the suitability of the model in another sample. Discriminant and convergent validity tool was approved.
Conclusion: The IAASQ questionnaire has acceptable reliability and validity. This tool is recommended for use in related studies in the Iranian community.
Background: Efforts to find a reliable non-molecular means of identification has been the main purpose of the current work that always is persuaded by researchers interested in the field of parasitology.
Methods: Adult fasciolids were obtained from the slaughterhouses in different parts of Iran in 2017, and investigated using the classical old fashion morphological appearances of the worms implementing a camera lucida equipped microscope. Histological procedure was subsequently performed for almost the entire collected adult worms followed by Hematoxylin and Eosin (H&E) staining technique. DNA extraction and RFLP-PCR technique were carried out for the entire fasciolid liver flukes. To attain more comparable morphological conclusions, Scanning Electron Micrographs were also implemented for two molecularly identified fasciolids.
Results: Based on spine morphology observed in worm’s tissue sections two types of tegumental spines, “pointed” and “molar” shapes have been identified addressing to distinguish F. hepatica and F. gigantica species respectively. The present identification has been also supported by Molecular analysis using RFLP-PCR technique.
Conclusion: There are some hidden morphological characters implemented in species identification for certain helminths. Meanwhile, the emergence of computer image analysis system (CIAS) on the scene of taxonomy, has revolutionized the accuracy of measurement in morphology by employing detailed parameters that have not been regarded before. The current study has illustrated the tegumental spines of two Fasciola species in tissue sections which has not been enough considered in helminthological publications so far.
Background: Despite many efforts, Iran continues to have a high rate of traffic accidents and poor health outcomes. This study aimed to measure income-related inequality for traffic accident health outcomes in Iran, a country with one of the highest rates of traffic accidents and related health problems.
Methods: The source of data was a national representative survey named the Iranian Multiple Indicator Demographic and Health Survey (IrMIDHS, 2010). Monthly household income is obtained through self-report in different quarters. Disparity rate ratio (DRR), slop index of inequality (SII) and the population attributable risk percentage measure (PAR%) were calculated. The concentration index (CI) of RTIs was used as our measure of socioeconomic inequality and decomposed into its determining factors.
Results: Using the DRR index, in the lowest income group, the risk of death from an accident was 2.3 times, greater and the risk of accidental disability was 11.7 times greater than for the third income quartet. The slope index also shows that the rate of road traffic deaths, disability and injury per 100,000 individuals decreased by 28, 82, and 392 moving from lower to higher incomes. This decrease in injury was about 581 for motorcyclists. CI was -0.04078643 (SE=.01424828, P-value 0.004). Male sex (68.9%), 15-29 yr old age (9.4%), employed activity status (20.8%) has a positive contribution in the RTIs concentration index.
Conclusion: In addition to intervention related to the road safety and vehicles and reducing human errors, prevention of the road traffic ill health outcomes requires attention to reduction of inequality in society.
Background: Healthcare systems are always facing increasing public demands to provide better services. Therefore, countries always need more resources and are constantly seeking more fiscal space for health. Freeing up resources through improving efficiency can be a practical option for all settings, particularly countries with low resources. This study aimed to identify feasible options for expanding fiscal space through efficiency within Iran’s healthcare system.
Methods: This was a qualitative study. We conducted 29 semi-structured in-depth interviews with stakeholders at various levels of healthcare system in 2017 and 2018. We used mixed method (deductive and inductive) qualitative content analysis. Pre-defined themes extracted from literature and meanwhile new subthemes were developed and added to the initial framework.
Results: We identified three main themes that affect the efficiency of healthcare system in Iran: administration, implementation, and monitoring. Problematic administration, inappropriate implementation and lack of good monitoring in healthcare initiatives may lead to inefficiencies and wasting resources. Recognizing these leakages in every healthcare system can free up some resources.
Conclusion: Irrespective of their economic development, all countries may, to some extent, face limited resources to address ever-increasing needs in their healthcare systems. While generating new resources is not always possible, enhancing efficiency to expand fiscal space might be a feasible option. Healthcare systems should identify the leakages and respond to wastages with appropriate planning. Getting the most out of current resources is possible through proper administration, good implementation and a well-established monitoring system for healthcare initiatives.
Background: The National Traumatic Spinal Cord Injury Registry in Iran (NSCIR-IR), was implemented initially in three hospitals as a pilot phase from 11 Oct 2015 to 19 Jun 2016 and has been active in eight centers from 19 Jun 2016. Poursina Hospital, a trauma care referral center in Rasht, Guilan Province of Iran is one of the registry sites, and has been involved in registering eligible patients since 1 Jan 2016. This study aimed to identify the challenges and solutions for sustaining the NSCIR-IR in a regional center.
Methods: This was a mixed-methods study. For the quantitative analysis, a retrospective observational design was used to measure case capture or case identification rate, mapping cases in the registry against those eligible for registry inclusion amongst the register of hospital admissions. For the qualitative component, data was collected using focus group discussions and semi-structured interviews, followed by thematic analysis.
Results: From 19 Jun 2016 to 24 Jan 2018, the proportion of case capture (case identification rate) was 17%. The median time between case identification and data entry to the system was 30.5 d (range: 2 to 193 d). Thematic analysis identified a lack of trained human resources as the most important cause of low case identification rate and delay in data completion.
Conclusion: Recruitment and education to increase trained human resources are needed to improve case capture, the timeliness of data input and registry sustainability in a regional participating site.
Background: To estimate under-five mortality rate (U5MR), as one of the sustainable development goals, in rural and urban areas of Iran from 1990 to 2015.
Methods: We used the data collected through two censuses and one Demographic and Health Surveys (DHS). We analyzed the Summary Birth History (SBH) data via 2 approaches including Maternal Age Cohort (MAC) and Maternal Age Period (MAP) methods, and then, Gaussian Process Regression (GPR) was used to combine the three trends and with 95% uncertainty. Finally, Ratio of U5MR in rural to urban was calculated.
Results: At the national level and in urban areas, U5MR in 1990, 2000, 2010, and 2015 was 66, 34, 18, and 13 per 1000 live births, respectively. Corresponding values in rural areas in 1990, 2000, 2010, and 2015 was 129, 64, 31, and 21 per 1000 live births, respectively. Accordingly, the ratio of U5MR in rural to urban at the national level was 1.93, 1.86, 1.72 and 1.63 in the same years. At the sub-national level, U5MR in urban areas ranged from 11.2 per 1000 live births in Isfahan to 18.2 per 1000 live births in Hormuzagn. U5MR in rural areas ranged from 14.1 per 1000 live births in Isfahan to 29.5 per 1000 live births in Sistan and Baluchistan
Conclusion: There is still a gap between rural and urban areas, although it has decreased during the 25 years of the study. To alleviate this gap, health system authorities are advised to plan appropriate actions using multi-sectoral capacities.
Background: Zataria multiflora Boiss. is known by the common Persian name “Avishan-e-Shirazi”, is one of the best-known medicinal herbs belonging to the Labiatae (Lamiaceae) family. The aim of this study was to evaluate the anticancer effects and the underlying mechanisms of how Z. multiflora Boiss., essential oil induced apoptosis in the human colorectal tumor cell lines (HCT116 & SW48).
Methods: This study was conducted in National Institute of Genetic Engineering and Biotechnology (NIGEB) (Tehran, Iran) from 2017 to 2019. The cytotoxicity of this essential oil was assessed by 3- (4,5-di-methylthiazol-2-yl)- 2,5-diphenyltetra-zolium bromide (MTT) assay, trypan blue exclusion, and colony formation assays. We assessed apoptosis and measure intracellular reactive oxygen species (ROS) by flow cytometry. Then gene expression was analyzed by Quantitative Real-Time RT-PCR.
Results: Z. multiflora Boiss., essential oil time- and dose-dependently inhibits cell proliferation and also induced apoptosis in both cell lines via UCP2-related mitochondrial pathway by the induction of intracellular ROS.
Conclusion: Z. multiflora Boiss., essential oil could be a good candidate for use as an inhibitor of the growth of colorectal tumor cells.
Background: Accidents were just one of the general health problems. According to WHO forecasts (2013), deaths from road accidents will become the fifth-highest cause of death in the world by 2030. Therefore, we have attempted the application of non-parametric count models for modeling female’s accident rates.
Methods: All accidents in Hamadan Province, western Iran are referred to as one of the emergency centers located in the hospitals. Data regarding the accidents were obtained from 21 emergency centers across Hamadan for the period 2009-2016. To assess the trend and pattern of the accidents, the Generalized Additive Model for the accident rate has been utilized.
Results: The Mean±SD age of the females in study was 31.23±12.88 yr old. For each of the three kinds of road accidents (car accidents, motor accidents and pedestrian crashes), the accident rates in the “residential urban” areas are lesser than in the “non-residential” area (P=<0.001) and in "public and sports grounds" and "great roads, avenues and streets" are more than in "others". For the three kinds of accidents, the functional effect in the monthly trend of the accidents was signification (P=<0.001).
Conclusion: The rates for all three kinds of accidents decreased. The increase in accident rates from the beginning of 2014 to Mar 2016 maybe due to the generalization of insurances in Iran and the increase in the number of accident victims being referred to the hospitals, which was the same with the results of other studies.
Background: Both Gestational diabetes and hypertension almost affect 10.5% of the pregnancies. This study was conducted to investigate and compare the pregnancy outcomes in women with gestational diabetes or high blood pressure with outcomes belonging to healthy mothers.
Methods: This population-based case-control study was conducted in 8 provinces and two cities of Iran on women referred to the public health centers during 2015 to 2018. Descriptive statistics for variables presented by percentages and frequencies and logistic regression analysis was used to analyze data at a significance level of less than 0.05.
Results: Some variables such as ethnicity, maternal education and age, gestational diabetes, high blood pressure and previous pregnancy outcome were significantly associated with stillbirth. Maternal age greater than 35 yr (OR=1.78, CI: 1.29-2.48), maternal illiteracy (OR=3.67, CI: 2.25-5.98), a previous stillbirth (OR=9.92, CI: 4.98-19.78), gestational diabetes among women who had never had a screening test (OR =3.91, CI: 2.96-5.18) and high blood pressure (OR =1.95, CI: 1.38-2.77) were important factors associated with stillbirth. Maternal and paternal occupation, paternal education and age, place of residence, smoking and maternal BMI were significantly associated with stillbirth.
Conclusion: Gestational diabetes, hypertension, a previous miscarriage, stillbirth, first pregnancy, low education level, advanced maternal age and ethnicity were associated with an increased risk of stillbirth. It is necessary to provide high-quality healthcare services before and during pregnancy particularly for those at heightened risk and improve knowledge of mothers on the side effects of each of the mentioned risk factors in order to control these factors more effectively and thus reducing the risk of stillbirth.
Background: The present research is a case-control study to analyze the influence of pre-miRNA-146a rs2910164 and pre‑miRNA-499 rs3746444 polymorphisms as candidate susceptibility factors for both rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).
Methods: Polymorphism in miR146 and miR499 using ARMS-PCR was genotyped on 139 autoimmune disease (AD) patients (89 RA and 50 SLE) referred to Educational Hospitals of Khorramabad, Lorestan Province, west of Iran in 2018–2019 and 237 healthy control subjects.
Results: A significant increase in the likelihood of carrying the GC vs. GG of pre-miR146-rs2910164 and T vs C allele of pre-miR499- rs3746444 in patients with RA was found. On the contrary, patients with RA were less likely to carry the TC + CC vs TT genotype and the C vs T allele of pre-miR499- rs374644. In females with the GC vs GG and GC+ CC vs GG genotypes, a significant association was found with the increased risk of RA. Interestingly, the genotypic combination of TC of the pre-miR499-rs374644 with GG of pre-miR146-rs2910164 more strongly decreased the risk of RA. In patients with SLE, no notable associations were found between both pre-miRNA-146a rs2910164 and pre‑miRNA-499 rs3746444 with risk of disease.
Conclusion: Genetic polymorphisms of miR146 rs2910164 is associated with RA susceptibility especially in females. Interestingly, there is a potential in miR499 to reduce the risk with the protective effect of gene-gene interactions on miR146 in RA disease.
Background: β-thalassemia is characterized by reduced synthesis of the hemoglobin beta chain that results in microcytic hypochromic anemia and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. β-thalassemias are caused by mutations in the β-globin gene, inherited in an autosomal recessive manner. Determining molecular defects in couples carrying β-thalassemia is a prerequisite for prenatal diagnosis of the disease. In this regards, database of β-globin gene haplotypes facilitates mutation detection of the gene and helps genetic counselors to reach the goals of β-thalassemia prevention program.
Methods: In this cross-sectional study, 255 couples attended genetic counseling between December 2017 and January 2019 in Afzalipour Hospital, Kerman University of Medical Scinces, Kerman, Iran as suspicious of β-thalassemia carriers. Furthermore, they were investigated using amplification refractory mutations system-polymerase chain reaction and restriction fragment length polymorphism methods for mutation screening and haplotype analysis of polymorphic sites in β-globin gene cluster, respectively.
Results: We identified 20 different types of β-globin gene mutation in 449 β-thalassemia carriers. Analysis of the pattern of Hind III/Gγ, Hinf I/5′β, Hinc II/3′Ψβ, Rsa I/5′β, AvaII/β and Hind III/Aγ polymorphic sites in 257 alleles of informative families revealed 17 different haplotypes. Haplotype 1 (77.24%) showed strong linkage with the most common mutation IVSI-5 while haplotype 5 (66.67%) was associated with the second frequent mutation IVSII-1.
Conclusion: To our knowledge, these β-globin haplotypes are reported for the first time which are different with those found in other parts of Iran. The current haplotypes pattern data makes the counseling of β-thalassemia carriers more straightforward and the process of mutation screening faster and more accurate.
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