4.5 Article

The Xmn1 polymorphic site 5' to the (G)gamma gene and its correlation to the (G)gamma:(A)gamma ratio, age at first blood transfusion and clinical features in beta-Thalassemia patients from Western Iran

期刊

MOLECULAR BIOLOGY REPORTS
卷 37, 期 1, 页码 159-164

出版社

SPRINGER
DOI: 10.1007/s11033-009-9566-7

关键词

Thalassemia; (G)gamma chain percent; Xmn1 polymorphic site; Splenectomy; Facial bone deformity; Age at first blood transfusion

向作者/读者索取更多资源

beta-Thalassemia is the most common single gene disorder in Iran and more than 25,000 affected individuals have been reported. It has been reported that in patients with beta-thalassemia in the presence of Xmn1 polymorphic site the level of Hb F and (G)gamma: (A)gamma ratio is increased. The prevalence of Xmn1 polymorphic site, (G)gamma: (A)gamma ratio and Hb F in 197 beta-thalassemia major patients from the Kermanshah Province of Iran were studied. The Xmn1 polymorphic site was determined by PCR-RFLP procedure. The levels of (G)gamma and (A)gamma chains were detected by HPLC. The percent of Hb F was determined using electrophoresis method. In beta-thalassemia major patients the frequency of presence Xmn1 was 0.39. The mean of (G)gamma: (A)gamma ratio was found to be 2.5. In the present study it was found that in the presence of Xmn1 polymorphic site (G)gamma percent and (G)gamma: (A)gamma ratio were significantly increased (P = 0.01) and the clinical features such as splenomegaly and bone marrow expansion were significantly improved (P = 0.01). We found that in the presence of Xmn1 polymorphic site on both chromosomes (+/+) the level of Hb F tended to be increased compared to the absence of Xmn1 (-/-). The present investigation has studied the frequency of Xmn1 polymorphic site in beta-thalassemia major patients from Western Iran and has revealed that the presence of this polymorphic site caused a positive influence on Hb F production and the (G)gamma percent which could improve the clinical symptoms of beta-thalassemia patients.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Materials Science, Multidisciplinary

Green synthesis and structural characterization of gold nanoparticles from Achillea wilhelmsii leaf infusion and in vitro evaluation

Maryam Asariha, Azam Chahardoli, Nadia Karimi, Maryam Gholamhosseinpour, Alireza Khoshroo, Houshang Nemati, Yalda Shokoohinia, Ali Fattahi

BULLETIN OF MATERIALS SCIENCE (2020)

Article Hematology

Establishing hematological reference intervals in healthy adults: Ravansar non-communicable disease cohort study, Iran

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 Pathology

The role of caveolin-1 and endothelial nitric oxide synthase polymorphisms in susceptibility to prostate cancer

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

Vitamin D level, lipid profile, and vitamin D receptor and transporter gene variants in sickle cell disease patients from Kurdistan of Iraq

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

Sickle cell disease and COVID-19: Susceptibility and severity

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

Liver Enzymes and Their Association with Some Cardiometabolic Diseases: Evidence from a Large Kurdish Cohort

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

Modulation of Fibroblast Growth Factor-21 and βklotho Proteins Expression in Type 2 Diabetic Women with Non-alcoholic Fatty Liver Disease Following Endurance and Strength Training

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.

HEPATITIS MONTHLY (2021)

Review Pediatrics

Thalassemia and COVID-19: Susceptibility and Severity

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

Oxidative stress parameters and keap 1 variants in T2DM: Association with T2DM, diabetic neuropathy, diabetic retinopathy, and obesity

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

Nrf2 antioxidant pathway and apoptosis induction and inhibition of NF-κB-mediated inflammatory response in human prostate cancer PC3 cells by Brassica oleracea var. acephala: An in vitro study

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

The influence of LPL S447X variants and obesity on lipid profile, oxidative stress, and the risk of T2DM: A case-control study

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

Klotho G395A variants are associated with T2DM and diabetic nephropathy and influence on the levels of biochemical parameters

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.

GENE REPORTS (2023)

Article Biochemistry & Molecular Biology

Association of angiotensin-converting enzyme (ACE) I/D variation with biochemical parameters and oxidative stress markers in systemic lupus erythematosus patients in west of Iran

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

Association of Keap1 (rs11085735) polymorphism and lncRNA MEG3 hypermethylation status with the risk of preeclampsia

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

COVID-19 and renin angiotensin aldosterone system: Pathogenesis and therapy

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)

暂无数据