Article
Pediatrics
Mona Asghari Ahmadabad, Noushin Pourreza, Setareh Ramezanpour, Adel Baghersalimi, Mersedeh Enshaei, Marjan Askari, Amirhossein Alizadeh, Elahe Izadi, Bahram Darbandi
Summary: This study reviewed the genetic testing and blood laboratory results of 455 candidates eligible for marriage in Rasht City, Iran, from March 21, 2013, to December 31, 2020. A total of 114 cases of alpha thalassemia were identified, with 15 different alpha mutations. The most common mutation was the -alpha(3.7) deletion in 55 patients (48.24%), followed by Hb Constant Spring (C.S) in 21 patients (18.42%) and poly A2 in 16 patients (14.03%). The study highlights the genetic heterogeneity and diversity of alpha thalassemia in the Rasht City population, providing valuable information for premarital screening, genetic counseling, prenatal diagnosis, preventive strategies, and the compilation of an alpha thalassemia catalog in Guilan province.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medical Laboratory Technology
Jianlong Zhuang, Chunnuan Chen, Wanyu Fu, Yuanbai Wang, Qianmei Zhuang, Yulin Lu, Tiantian Xie, Ruofan Xu, Shuhong Zeng, Yuying Jiang, Yingjun Xie, Gaoxiong Wang
Summary: Comprehensive analysis of thalassemia alleles based on third-generation sequencing (TGS) can effectively detect both deletional and nondeletional thalassemia variants. This study demonstrates the application value of TGS-based comprehensive analysis in detecting rare thalassemia gene variants.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
(2023)
Article
Medical Laboratory Technology
Weilun Huang, Shoufang Qu, Qiongzhen Qin, Xu Yang, Wanqing Han, Yongli Lai, Jiaqi Chen, Shihao Zhou, Xuexi Yang, Wanjun Zhou
Summary: This study presents a novel method for analyzing hemoglobinopathy variants using long-read TGS. The researchers designed a multiplex long PCR to prepare library templates and conducted sequencing on an Oxford Nanopore MinION instrument. The method showed high-throughput capability for molecular screening and genetic diagnosis of hemoglobinopathies.
CLINICAL CHEMISTRY
(2023)
Article
Multidisciplinary Sciences
Cuiting Peng, Haixia Zhang, Jun Ren, Han Chen, Ze Du, Tong Zhao, Aiping Mao, Ruofan Xu, Yulin Lu, He Wang, Xinlian Chen, Shanling Liu
Summary: Thalassemia is a common hereditary anemia with significant morbidity and mortality worldwide. Precise diagnosis of thalassemia, especially rare variants, remains challenging. This study utilized long-range PCR and long-molecule sequencing to diagnose common and rare types of thalassemia variants. Compared with traditional methods, the study identified rare clinically significant variants that were misdiagnosed previously. The results validated third-generation sequencing as a promising method for rare thalassemia genetic testing.
SCIENTIFIC REPORTS
(2022)
Article
Medical Laboratory Technology
Qi Peng, Zhenhong Zhang, Siping Li, Chuyun Cheng, Wenrui Li, Chunbao Rao, Baimao Zhong, Xiaomei Lu
Summary: This study investigated the mutation spectrum of thalassemia in the Dongguan region of southern China and analyzed hematologic features of thalassemia carriers with different types of globin mutations. The study found that the severity of alpha-thalassemia carriers correlates with the number of nonfunctional alpha-globin genes, and MCV and MCH are significantly reduced in beta-thalassemia carriers.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Biochemistry & Molecular Biology
Sima Alkilani, Tuba Sevimoglu
Summary: In this study, molecular dynamics simulation was used to examine the effects of alanine substitution mutations in the beta-globin protein sub-units on their structure and performance. It was found that the Hb Ankara variant showed a non-conservative mutation, while the Hb Siirt and Hb Izmir variants showed semi-conservative mutations. Hb Siirt substitution mutation may have an effect on the protein function, while Hb Ankara and Hb Izmir variants may act as silent mutations.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Medicine, General & Internal
Paloma Ropero, Fernando Ataulfo Gonzalez Fernandez, Jorge M. Nieto, Williana Melissa Torres-Jimenez, Celina Benavente
Summary: This study verifies that the diagnosis and clinical grade of beta-thalassemia can be accurately established when a triplication of alpha genes and heterozygous beta-thalassemia coexist. The severity of the HBB gene mutation determines the clinical variation. The genotypes and severity of gene alterations affect the hematological parameters and the need for transfusion therapy.
FRONTIERS IN MEDICINE
(2022)
Article
Pediatrics
Yetti Hernaningsih, Yuli Syafitri, Yulia Nadar Indrasari, Prafa Alif Rahmawan, Mia Ratwita Andarsini, Indra Lesmana, Emmanuel Jairaj Moses, Nur Arzuar Abdul Rahim, Narazah Mohd Yusoff
Summary: Limited studies in East Java, Indonesia have shown a diverse range of genetic variations among thalassemia patients, with 12 different variants identified. The most common variant found was beta(CD26)/beta(IVS-I-5).
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Niloofar Bazazzadegan, Seyedeh Sedigheh Abedini, Azita Azarkeivan, Susan Banihashemi, Nooshin Nikzat, Hossein Najmabadi, Maryam Neishabury
Summary: This study investigated the spectrum of HBB gene mutations in 2315 patients suspected of having thalassemia major or intermedia in Iran and compared the results with a meta-analysis of beta thalassemia cases in the Iranian population. The study found that IVSII-1 (G > A) and IVSI-5 (G > C) were the most common HBB gene mutations in this population, with frequencies ranging from 0.15% to 5.44%.
Article
Multidisciplinary Sciences
Carla Casu, Alison Liu, Gianluca De Rosa, Audrey Low, Aae Suzuki, Sayantani Sinha, Yelena Z. Ginzburg, Charles Abrams, Mariam Aghajan, Shuling Guo, Stefano Rivella
Summary: Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm caused by a driver mutation in the JAK2 gene, leading to overproduction of mature erythrocytes and high hematocrit levels. Therapeutic phlebotomy is the standard treatment, but using antisense oligonucleotides against Tmprss6 mRNA to increase hepcidin could provide a less invasive alternative for PV patients.
Article
Multidisciplinary Sciences
Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen
Summary: This study investigated the frequency and etiology of unnecessary prenatal diagnosis for hemoglobinopathies in a university center in Thailand over 12 years. The results showed that out of 4,946 fetal specimens, 13.1% of prenatal diagnoses were unnecessary. This not only increases the risk of complications associated with fetal specimen collection, but also has psychological impacts on pregnant women and their families, as well as additional laboratory expenses and workload.
Article
Genetics & Heredity
Jingxian Ding, Zhaohui Huang, Xiaoliu Jiang, Qingge Li, Yali Cao, Yonghong Guo
Summary: Thalassemia is not uncommon in breast cancer patients and should be distinguished from iron deficiency anemia to avoid misdiagnosis.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Yuvaraj Ravikumar, Pimpisid Koonyosying, Sirichai Srichairatanakool, Lakshmi Naryanan Ponpandian, Jayanthi Kumaravelu, Somdet Srichairatanakool
Summary: This study identified two potential EHMT2 inhibitors through virtual screening, which could be helpful in managing beta-thalassemia disease.
Article
Medical Laboratory Technology
Matteo Vidali, Renata Paleari, Ferruccio Ceriotti, Sergio Bernardini, Ilio Giambini, Duilio Brugnoni, Laura Trainini, Ciriaco Carru, Filippo Porcu, Mariarosa Carta, Davide Giavarina, Marcello Ciaccio, Bruna Lo Sasso, Gaetano Corso, Carmela Paolillo, Romolo Dorizzi, Marco Rosetti, Marcello Fiorini, Maria Bombara, Michela Grosso, Mariarosaria Giuliano, Massimo Locatelli, Antonella Lucci, Francesca Mencarelli, Novella Scattolo, Marta Strollo, Andrea Mosca
Summary: The aim of this study was to monitor the reliable indicator of worldwide standardization by measuring the yearly distributions of HbA(2). The analysis and comparison of the HbA(2) measurements collected from 15 Italian laboratories over three years showed that the distributions were similar in consecutive years, indicating the reliability of the method under certain conditions.
CLINICA CHIMICA ACTA
(2023)
Article
Oncology
Hou Qian, Weifeng Li, Xiuhua Lin, Ji Xu, Xiaoli Zhang, Weihua Zhao, Yike Wu, Wenlan Liu
Summary: A 15-year-old girl with severe thalassemia intermedia was found to have a compound heterozygous state of Chinese (G)gamma(+)((A)gamma delta beta)(0)/beta(CD17)-thalassemia combined with a -(SEA) deletion. Molecular analysis revealed that the proband inherited the mutations from her mother and father, with the father carrying a HBB heterozygous mutation and the mother being a double heterozygous carrier of the Chinese (G)gamma(+)((A)gamma delta beta)(0)-thalassemia mutation combined with a -(SEA) deletion. The proband experienced a worsening of clinical symptoms, from no obvious clinical symptoms to severe anemia and splenomegaly, and became dependent on monthly blood transfusions.
MOLECULAR MEDICINE REPORTS
(2023)
Article
Hematology
Mehdi Moradinazar, Farid Najafi, Yahya Pasdar, Behrooz Hamzeh, Ebrahim Shakiba, Mary Kathryn Bohn, Khosrow Adeli, Zohreh Rahimi
Summary: This study established hematological reference intervals for a healthy adult Kurdish population, finding significant age- and sex-specific differences as well as variations related to lifestyle factors such as smoking and physical activity. Ethnic-specific differences should be considered when establishing reference intervals for hematological parameters.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Mohammad-Taher Moradi, Hossein Fallahi, Zohreh Rahimi
MOLECULAR BIOLOGY REPORTS
(2020)
Article
Pathology
Mahdieh Aliyari, Daniel Elieh Ali Komi, Amir Kiani, Mahmoudreza Moradi, Maryam Tanhapour, Zohreh Rahimi, Hadi Mozafari, Ehsan Mohammadi-Noori, Tayebeh Pourmotabbed, Asad Vaisi-Raygani, Fariborz Bahrehmand
Summary: The study investigated the effects of CAV1-T29107A and eNOS G894T polymorphisms on serum hormone levels in patients with prostate cancer. The results showed that the AT + TT genotypes of the CAV1 gene were significantly associated with an increased risk of prostate cancer, particularly in smokers or patients with diabetes. Additionally, individuals carrying both the T allele of CAV1 A29107T and the T allele of eNOS G894T genes had a significantly increased risk of prostate cancer.
INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
(2021)
Article
Medical Laboratory Technology
Abdalla Hussein Hama, Ebrahim Shakiba, Zohreh Rahimi, Mehran Karimi, Hadi Mozafari, Omed Adnan Abdulkarim
Summary: The study revealed the presence of vitamin D deficiency among sickle cell disease patients in Kurdistan of Iraq, with a high frequency of VDR FokI C allele. Vitamin D levels were correlated with lipid profile, and no significant difference was observed in VDR TaqI and GC polymorphisms between patients and controls.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Review
Oncology
Babak Sayad, Mehran Karimi, Zohreh Rahimi
Summary: Studies suggest that COVID-19 presentation in SCD patients varies with age, with children showing milder symptoms and older individuals more likely to experience severe outcomes. Pediatric intensive care unit admission rates should be carefully considered when managing SCD patients, given the potential for higher rates among this population.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Biotechnology & Applied Microbiology
Maryam Kohsari, Mehdi Moradinazar, Zohreh Rahimi, Yahya Pasdar, Ebrahim Shakiba
Summary: This study found that liver enzymes levels could be considered for early diagnosis of metabolic syndrome, hypertension, and cardiovascular diseases, with gamma-glutamyl transferase (GGT) and alkaline phosphatase (ALP) levels showing the strongest correlation with hypertension risk.
BIOMED RESEARCH INTERNATIONAL
(2021)
Article
Gastroenterology & Hepatology
Afsaneh Astinchap, Amirabbas Monazzami, Khadijeh Fereidoonfara, Zohreh Rahimi, Mehrali Rahimi
Summary: The study aimed to determine the effects of eight weeks of endurance and resistance training on BKL and FGF-21 proteins expression in diabetic women with NAFLD. Both training methods were found to modulate the destructive effects of type 2 diabetes and NAFLD on BKL and FGF-21 proteins expression, with no significant difference observed between the two training groups.
Review
Pediatrics
Somayeh Rahimi, Saba Zakeri, Mahsa Nouri, Yaser Mohassel, Bahareh Karami, Seyedeh Ozra Hosseini Jomor, Babak Sayad, Zeinab Mohseni Afshar, Zohreh Rahimi, Zahra Asadi
Summary: Studies have shown a lower prevalence of COVID-19 in beta-thalassemia patients compared to the general population, with mild to moderate cases especially in those without comorbidities. Beta-thalassemia children are susceptible to COVID-19 but tend to have less severe symptoms compared to adults.
IRANIAN JOURNAL OF PEDIATRICS
(2021)
Article
Medical Laboratory Technology
Farnaz Khalili, Asad Vaisi-Raygani, Ebrahim Shakiba, Maryam Kohsari, Maryam Dehbani, Rozita Naseri, Soheila Asadi, Ziba Rahimi, Mehrali Rahimi, Zohreh Rahimi
Summary: Chronic hyperglycemia leads to nerve tissue and retina damage through inflammatory pathways and oxidative stress mechanisms. The Keap1-Nrf2 pathway is an important antioxidant pathway affected by Keap1 variants, which may impact susceptibility to diabetes complications. In this study, patients with neuropathy had lower antioxidant levels and higher oxidative stress compared to those without complications, suggesting a role of reduced antioxidant system and Keap1 variants in the pathogenesis of diabetes and its complications. Monitoring oxidative stress parameters and using antioxidants in treatment of diabetic patients, especially those with complications, is recommended.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Public, Environmental & Occupational Health
Gulshan Omar Ahmed, Zohreh Rahimi, Maryam Kohsari, Ebrahim Shakiba
Summary: The study investigated the association between LPL S447X polymorphism and T2DM, obesity, lipid profile, and oxidative stress parameters in a population from the Kurdistan region of Iraq. It was found that obese diabetic patients had higher levels of triglycerides, cholesterol, and low-density lipoprotein-cholesterol, and lower level of high-density lipoprotein-cholesterol. The presence of LPL SX genotype was associated with decreased risk of T2DM and reduced levels of fasting blood sugar and oxidative stress.
HEALTH SCIENCE REPORTS
(2023)
Article
Genetics & Heredity
Shna Ahmed Mohhamed, Fatemeh Khadir, Zohreh Rahimi, Maryam Kohsari
Summary: This study aimed to investigate the association between klotho G395A (rs1207568) polymorphism and the risk of type 2 diabetes mellitus (T2DM) and its complication of nephropathy in the Kurdish population of Iraq, as well as its relation to biochemical and hematological parameters. The results showed significantly lower levels of vitamin D in T2DM patients compared to controls, and the klotho GA genotype increased the risk of T2DM by 2.2 times. The klotho AA genotype increased the risk of diabetic nephropathy by 2.72-fold and enhanced the risk of macroalbuminuria by 3.74-fold. Therefore, this polymorphism is associated with the occurrence risk of T2DM and diabetic nephropathy.
Article
Biochemistry & Molecular Biology
Amir Kiani, Daniel Elieh-Ali-Komi, Fariborz Bahrehmand, Shayan Mostafaei, Asad Vaisi-Raygani, Hosein Baniamerian, Farank Aghaz, Maryam Tanhapour, Ebrahim Shakiba, Zohreh Rahimi, Tayebeh Pourmotabbed
Summary: The study investigated the relationship between ACE gene I/D variation and oxidative stress in a group of SLE patients in west of Iran. PCR was used to determine genotypes and allele frequencies related to ACE (I/D) variation. The distribution of ACE I/D genotypes in SLE patients was different from that of the control group. The presence of DD genotype increased the risk of SLE, while ID genotype decreased the risk. SLE patients with DD and ID genotypes had lower PON activity and higher levels of MDA and neopterin.
MOLECULAR BIOLOGY REPORTS
(2023)
Article
Genetics & Heredity
Maryam Zangeneh, Sara Heydarian, Zahra Seifi, Maryam Kohsari, Zohreh Rahimi
Summary: This study investigates the role of Keap1 variants and the methylation status of lncRNA MEG3 in the risk of preeclampsia. The results suggest that the Keap1 rs11085735 polymorphism and the hypermethylation status of lncRNA MEG3 are associated with the development and risk of preeclampsia.
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
(2022)
Review
Public, Environmental & Occupational Health
Fatemeh Babajani, Atefeh Kakavand, Hossien Mohammadi, Armin Sharifi, Saba Zakeri, Soheila Asadi, Zeinab Mohseni Afshar, Zohreh Rahimi, Babak Sayad
Summary: The study reviewed the role and alterations of RAAS components in SARS-CoV-2 infection and proposed potential therapeutic approaches, such as ACE inhibitors, angiotensin receptor blockers, and mineralocorticoid receptor inhibitors. Additionally, other potential treatments like beta-adrenergic blockers and vitamin D were suggested along with ongoing clinical trials to evaluate the efficacy and safety of these agents in managing and treating COVID-19.
HEALTH SCIENCE REPORTS
(2021)
Letter
Public, Environmental & Occupational Health
Babak Sayad, Zeinab Mohseni Afshar, Feizollah Mansouri, Zohreh Rahimi
HEALTH SCIENCE REPORTS
(2020)
