Review
Medicine, General & Internal
Maria Sanchez-Villalobos, Miguel Blanquer, Jose M. Moraleda, Eduardo J. Salido, Ana B. Perez-Oliva
Summary: In this article, the main pathophysiological pathways involved in beta-thalassemia are reviewed, with a focus on the development of new therapies directed at new therapeutic targets.
FRONTIERS IN MEDICINE
(2022)
Article
Biology
Anne Chalumeau, Giacomo Frati, Elisa Magrin, Annarita Miccio
Summary: Beta-hemoglobinopathies are severe genetic disorders characterized by abnormal synthesis or reduced production of beta-globin chains of hemoglobin. Conventional techniques for detecting hemoglobin molecules have limitations, and high-resolution and reproducible reverse phase-HPLC is an effective method for identifying and quantifying globin chains.
Article
Biochemistry & Molecular Biology
Gaijing Han, Cong Cao, Xi Yang, Guo-Wei Zhao, Xin-Jun Hu, Dong-Lin Yu, Rui-Feng Yang, Ke Yang, Ying-Ying Zhang, Wen-Tian Wang, Xiu-Zhen Liu, Peng Xu, Xue-Hui Liu, Ping Chen, Zheng Xue, De-Pei Liu, Xiang Lv
Summary: In beta-thalassemia, AHSP plays a crucial role in regulating redox balance by escorting free alpha-globin and inhibiting ROS production. Nrf2 and its agonist tBHQ can stimulate AHSP expression, and MafG facilitates AHSP gene activation through Nrf2. Excessive alpha-globin and ROS production can be partially alleviated by reducing AHSP level.
Article
Multidisciplinary Sciences
Samina Ejaz, Iqra Abdullah, Muhammad Usman, Muhammad Arslan Iqbal, Sidra Munawar, Muhammad Irfan Khan, Nagina Imtiaz, Hanniah Tahir, Muhammad Ihsan Bari, Tayyaba Rasool, Aneeza Fatima, Ramsha Anwar, Ayman Durrani, Yasir Hameed
Summary: This study aimed to investigate the mutational spectrum of hemoglobin encoding genes in thalassemia patients and carriers in Southern Punjab, Pakistan, and identify potentially damaging variants. NGS and Sanger sequencing were used and a total of 20 variants were found in patients by NGS and 5 by Sanger sequencing, while in carriers, 20 variants were found by NGS and 3 by Sanger sequencing. Two novel HBB variants and one novel HBE1 variant were also discovered. The study suggests that these HBB variants have the potential for pathogenicity and can be used for thalassemia diagnosis and therapy.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Woratree Kaewsakulthong, Thunwarat Suriyun, Sukanya Chumchuen, Usanarat Anurathapan, Suradej Hongeng, Suthat Fucharoen, Orapan Sripichai
Summary: The pathophysiological properties of erythroid cells derived from different types of thalassemia were investigated. It was found that thalassemia cells exhibited accelerated expansion and limited differentiation. The severity of erythroid maturation arrest varied among different types of thalassemia. The induction of HSP70 transcripts was robust in thalassemia erythroid cells. Increased cell death was observed in homozygous beta(0)-thalassemia erythroblasts and associated with specific gene expression regulation.
JOURNAL OF CLINICAL MEDICINE
(2022)
Letter
Oncology
Huiqiao Chen, Zixuan Wang, Shanhe Yu, Xiao Han, Yun Deng, Fuhui Wang, Yi Chen, Xiaohui Liu, Jun Zhou, Jun Zhu, Hao Yuan
Summary: The study identified TRIAC, a bioactive thyroid hormone metabolite, as a potent inducer of zeta-globin expression, which could potentially be a new therapeutic option for patients with severe alpha-thalassemia or sickle-cell disease. The researchers also found that THRA deficiency abolished the zeta-globin-inducing effect of TRIAC, suggesting a direct regulatory role of THRA in zeta-globin expression.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2021)
Article
Genetics & Heredity
Ju Long, Enqi Liu
Summary: The study found that the carriage rates of alpha alpha alpha(anti3.7), alpha alpha alpha(anti4.2), and HK alpha alpha genes in the population of southern Guangxi were 0.39%, 0.29% and 0.16% respectively. Hematology data analysis confirmed that individuals carrying these genes along with the beta-thalassemia allele could lead to further imbalance of the ratio of alpha-chain to beta-chain, resulting in varying degrees of anemia. These variations are not detectable by conventional gene analysis reagents, posing a risk to individuals.
Review
Chemistry, Medicinal
Rayan Bou-Fakhredin, Lucia De Franceschi, Irene Motta, Maria Domenica Cappellini, Ali T. Taher
Summary: Better understanding of gamma-globin regulation has led to advancements in pharmacologic agents for HbF induction and identification of novel HbF-inducing strategies.
Article
Biochemistry & Molecular Biology
Matteo Zurlo, Cristina Zuccato, Lucia Carmela Cosenza, Jessica Gasparello, Maria Rita Gamberini, Alice Stievano, Monica Fortini, Marco Prosdocimi, Alessia Finotti, Roberto Gambari
Summary: This research demonstrates that sirolimus treatment can decrease autophagy-associated p62 protein, increase ULK-1 expression, and reduce excessive alpha-globin content in erythroid precursors. These findings suggest that autophagy, ULK-1 expression, and alpha-globin chain reduction should be considered important endpoints in sirolimus-based clinical trials for beta-thalassemias.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Summary: This study reports a case of thalassemia in a 32-year-old male patient, in which a novel gene deletion was identified using multiple detection methods. The results demonstrate the promising potential of TGS technology in thalassemia breakpoint detection and screening for novel gene deletions.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Shuang-Ping Ma, Hai-Rui Xi, Xu-Xia Gao, Jing-Min Yang, Ryo Kurita, Yukio Nakamura, Xian-Min Song, Hong-Yan Chen, Da-Ru Lu
Summary: The study found that hemoglobin subunit beta pseudogene 1 (HBBP1) can induce gamma-globin production by enhancing the expression of ETS transcription factor ELK1, providing potential therapeutic implications for beta-thalassemia patients.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Hematology
Nathalie Bonello-Palot, Audrey Benoit, Imane Agouti, Ilyes Hamouda, Valentine Brousse, NaThalY Network, Catherine Badens
Summary: The introduction of a new beta-thalassemia mutation variant associated with an additional functional a-globin gene can result in a Thalassemia Intermedia phenotype. This study analyzed the transfusion needs, iron overload, and complication rates in 45 patients with a heterozygous beta(0) or beta(+)-thalassemia mutation associated with a triplication at HBA locus. The results showed that patients with an extra functional a-globin gene had milder anemia, lower transfusion needs, and lower complication rates compared to those with mutations in the beta-globin gene only. However, some of them still experienced complications such as cholelithiasis or extramedullary hematopoiesis. Additionally, a significant proportion of the cohort required transfusions or iron chelation therapy. It is crucial to accurately diagnose the genotype associating a heterozygous beta(0) or beta(+)-thalassemia mutation with a triplication at HBA locus as it can lead to symptomatic anemia and potential iron-related complications, even in patients without transfusion needs.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2023)
Article
Medical Laboratory Technology
Xu Chen, Mingyue Luo, Lei Pan, Yuting Huang, Zehao Yan, Kai Shen, Guangxing Mai, Hui Liang, Jiaqi Li, Yiwei Chen, Likuan Xiong
Summary: Thalassemia is a common inherited haemoglobin disorder. This study utilized various genetic methods to screen a patient for thalassemia and discovered a novel gene deletion using third-generation sequencing. The results highlight the potential of third-generation sequencing in identifying new genotypes of thalassemia.
CLINICA CHIMICA ACTA
(2022)
Article
Genetics & Heredity
Matteo Zurlo, Jessica Gasparello, Lucia Carmela Cosenza, Giulia Breveglieri, Chiara Papi, Cristina Zuccato, Roberto Gambari, Alessia Finotti
Summary: The objective of this study was to develop an experimental model system for studying the reduction of toxic alpha-globin aggregates in beta-thalassemia. K562 cellular clones were produced that stably produced high levels of alpha-globin protein and showed increased apoptosis and autophagy. This model system can be used to screen pharmacological agents that activate autophagy and reduce alpha-globin accumulation, as well as for new therapeutic approaches targeting the reduction of alpha-globin gene expression.
Article
Pharmacology & Pharmacy
Fizza Iftikhar, Muhammad Behroz Naeem Khan, Syed Ghulam Musharraf
Summary: This study identified three non-toxic monoterpenes with significant erythroid expansion ability in K562 cells, while four compounds showed high potency in inducing HbF at both transcriptional and protein levels in vitro. The findings suggest monoterpenes as potential therapeutic agents for beta-thalassemia and sickle cell anemia, pending further mechanistic elucidation.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
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
Biochemistry & Molecular Biology
Mehri Nazeri, Houshang Nemati, Mozafar Khazaei
Summary: This in vitro study demonstrated the apoptotic, antioxidant, anti-inflammatory, and antiproliferative properties of the ethanolic extract of Brassica oleracea var. acephala (EEBO) in PC3 prostate cancer cells. The study found that EEBO induced the Nrf2 antioxidant pathway and apoptosis, while inhibiting inflammation, leading to decreased cell viability and increased apoptosis.
MOLECULAR BIOLOGY REPORTS
(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)