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جستجوی مقالات مرتبط با کلیدواژه « beta-thalassemia » در نشریات گروه « پزشکی »

  • Amin Kiani, Elham Ghorbani Aliabadi, Bahareh Kermani, Fatemeh Rezabeigi Davarani, Vahid Rahmanian, Salman Daneshi *
    Background

    Major β-Thalassemia is the most prevalent singlegene disorder in Iran. Over 2 million beta-thalassemia carriersand more than 25,000 patients have been identified nationwide. This study aimed to evaluate the Major β-Thalassemia (MBT) screening surveillance system in the Jiroft district, southeast Iran.

    Methods

    This descriptive study was conducted using the census method and was based on the information recorded in the files of all major thalassemia births (born between 2011 and 2021) in the health centers of Jiroft University of Medical Sciences. A formula was used to calculate the program’s incidence, expected incidence, and success rate. Stata version 14 and Excel software were utilized to analyze the data, and the qualitative data are presented as numerical values and percentages.

    Results

    During the study periods, 91 patients with betathalassemia Major were born in the population covered by Jiroft University of Medical Sciences. By performing prenatal diagnosis tests in the first weeks of pregnancy and obtaining parental consent for legal abortion, the birth of 422 sick children was prevented. The 11-year incidence of beta-thalassemia major was 5.32 per 10,000, and the expected incidence (if no prevention program was implemented) was 30 per 10,000 live births. The mean success rate of the Major β-Thalassemia surveillance system during the study period was 82.26%, which reached 95.45% in 2021.

    Conclusion

    The i mplementation of efficient, e ffective h ealth policies influenced by the native culture of the region has resulted in the thalassemia prevention program in Jiroft City being completely effective. The implementation success rate of this program has exceeded 95%. Modeling and adapting these preventive policies can assist in implementing thalassemia prevention programs in other parts of the country and developing countries.

    Keywords: Beta-Thalassemia, Incidence, Prevention, Control, Public Health Surveillance, Epidemiology}
  • Parviz Shahmirzalou, Morteza Seyyed Hamze, Hasan Ebrahimpour Sadagheyani
    Background

    Thalassemia is an inherited blood disorder with a defect in the sufficient production of a protein called hemoglobin. We aimed to investigate the simple blood indices of patients with Beta Thalassemia Trait (BTT) and Iron Deficiency Anemia (IDA) to propose a new formula using logistic regression for differentiate two characteristics from each other.

    Methods

    Among the 702 records of the BTT Counseling Center (Khoy, Iran-2022), 292 cases (219 iron deficiency anemia (IDA) and 73 BTT) were eligible for the study. Blood indices such as RBC, HGB, HbA2 described and used to diagnose two types of participants. Blood indices had high multicollinearity that was modified. Logistic regression for blood indices fitted and goodness of fit indices with Area Under ROC curve (AUC) estimated.

    Results

    The average age of the participants was 24.56 yr. The status of Multicollinearity between independent variables was modified. The HGB, MCV, HbA2, and HbA variables were used in the model and only HbA2 status was significant (P<0.001). According to the output of the model, for each unit increase in HbA2, the chance of having BTT was about 8.5 times higher than IDA. The sensitivity, specificity, AUC curve, and accuracy of the final model were estimated to be 97, 72, 84, and 93%, respectively. A regression formula to differentiate BTT from IDA proposed.

    Conclusion

    In studies related to the differentiation of the BTT from IDA, the presence of the HbA2 index in the model and prediction is very necessary.

    Keywords: Beta thalassemia, Iron deficiency anemia, Logistic regression, Blood index, Differentiation formula}
  • Mansoureh Ajami, Omid Moeini, Amir Atashi, Masoud Soleimani, Hossein Dehghani, Monireh Ajami*
    Background

    Beta-thalassemia is a group of hereditary blood disorders caused by mutations in the β-globin gene cluster resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. This study aimed to produce an in vitro model of β-thalassemia using CRISPR/Cas9 as an easily programmable, fast, more powerful, and efficient technique.

    Materials and Methods

    Guide RNA (gRNA)-Cas9 co-expression vectors were used for embryonic stem (ES) cell nucleofection. PCR, T7EI, and Hbb-b1 gene sequencing tests were done on extracted DNA to evaluate gene mutation. Following erythroid differentiation of ES cells, analysis of hemoglobin genes and erythroid transcription factors were assessed using a quantitative reverse transcription-polymerase chain reaction.

    Results

    Sequencing data associated with clone 31 confirmed the deletion of 851 nucleotides between exon 2 and 3 in an Hbb-b1 allele in this clone and Indel mutation in exon 2 (-40bp/+38bp) from another allele of Hbb-b1. Significant expression of erythroid transcription factors was observed in wild type, Hbb-b1+/- and Hbb-b1-/- groups. The hbb-b1 gene expression in the Hbb-b1+/- group significantly decreased, although the Hbb-b1-/- group had zero expression.

    Conclusion

    Utilizing an efficient erythroid differentiation method on the CRISPR/Cas9-mediated Hbb-b1 knock-out in ES cells provides accessibility to the laboratory thalassemia model. This method could be used to produce a mouse model of β-thalassemia intermedia (Hbbth1/th1 mice), which are required for the identification of the molecular basis of β-thalassemia and enable testing of the therapeutic approaches such as the recovery of functional β or γ hemoglobin chain.

    Keywords: Beta‐thalassemia, CRISPR‐Cas9 system, Hbb‐b1, Mouse embryonic stem cell}
  • Maryam Ahmadipour, Ahmad Naghibzadeh-Tahami, Koroush Mirzie, Elham Maleki *
    Introduction
    Heart disease is the main cause of mortality and morbidity in patients with beta thalassemia. Vitamin D and calcium deficiency also is common in these patients. We studied and compared vitamin D and calcium levels and other parameters with echocardiographic findings in patients with beta thalassemia.
    Method
    A cross-sectional study in patients with Transfusion-dependent thalassemia was conducted. 169 patients with Transfusion-dependent thalassemia were enrolled. Ejection fraction, valvular insufficiency and aortic diameter were determined. The aortic diameter of patients was measured using Mindray DC60 echo model. All of these patients were tested for levels of vitamin D, calcium (Ca), parathyroid hormone (PTH), alkaline phosphatase (ALP), platelet (PLT), and ferritin, Finally, the effect of these factors on aortic root (AR), aortic valve area (AVA) and ejection fraction (EF) was evaluated. One-way ANOVA was used to compare quantitative variables, and chi-square test with 95% confidence level was used to estimate relationships and compare ratios in groups.
    Results
    There was a statistically significant relationship between vitamin D deficiency and Serum Ca (P-value = 0.009). Our results showed that with the increase in the level of vitamin D, the EF also increased and the probability that the aortic root will have a normal size will be higher. Furthermore, disorder in PTH and PLT level causes a decrease in the EF.
    Conclusion
    This study did show an association between Vitamin D deficiency and cardiac function in patients with Transfusion-dependent thalassemia. Vitamin D can be considered as a supplement in thalassemia patients.
    Keywords: Beta thalassemia, Vitamin D levels, Cardiac function, Aortic root, Aortic valve area, Ejection fraction}
  • Atefeh Ghareghani, Sedighe Pirdadi, Marzieh Nikparvar*, Shideh Rafati, Hanie Bagheri, MohammadHamed Ersi
    Background

     Pulmonary hypertension (PH) is associated with an increased risk of cardiac failure among asymptomatic patients with beta-thalassemia. This study aimed to determine the prevalence of PH and associated risk factors in patients with beta-thalassemia major (TM) and beta-thalassemia intermedia (TI) in Hormozgan province, Iran.

    Materials and Methods

     Eighty-nine patients, including 65 TM and 24 TI, were enrolled in this cross-sectional study. The data regarding the gender, age, history of splenectomy, and type of chelating therapy were collected, and then hematocrit, hemoglobin (Hb), and serum ferritin levels were determined. Doppler echocardiography was performed for patients, and tricuspid regurgitation jet velocity (TRV)≥2.5 m/s was used to screen PH. Eventually, the data were analyzed using SPSS.

    Results

     The prevalence of TRV≥2.5 m/s was 21.3% in all patients, indicating that it was not significantly different between patients with TM (21.8%) and TI (20.8%). There was a significant association between the prevalence of PH and the male gender. Based on the results, TRV≥2.5 m/s was observed in both children and adults. No significant association was detected between Hb, serum ferritin levels, and splenectomy with PH prevalence.

    Conclusion

     The findings revealed that PH is common in both children and adult patients with TM and TI in our population and should be considered to choose the optimal treatment of patients with TM and TI.

    Keywords: Pulmonary hypertension, Beta-thalassemia, Thalassemia major, Thalassemia intermedia, Cross-sectional studies}
  • Naser Ali Mirhosseini, Shima Mirhosseini *
    Background

    Down syndrome and β-thalassemia are commonly prevalent genetic diseases worldwide. Predominantly, an extra copy of chromosome 21 or trisomy 21 predominantly causes Down syndrome (the most common genetic etiology of moderate intellectual disability). Down syndrome is associated with congenital anomalies and characteristic features. β-thalassemia major or transfusion- dependent Thalassemia refers to a severe expression of the disorder that requires early transfusion therapy.

    Case Report: 

    Here, we reported a male Down syndrome patient with a 47, xy, +21 karyotype who was diagnosed with β-thalassemia major at 6 months and treated with repeated transfusions every 20 days due to anemia.

    Conclusion

    The association between Down syndrome and major β-thalassemia is rare. The severity of the presentation of the child may be explained by the coincidence of these diseases.

    Keywords: Down syndrome, beta-Thalassemia, Transfusion Therapy, Karyotype}
  • Saeedeh Khorashadi Zadeh, Bita Bijari, Tayyebeh Chahkandi *
    Background

    Different drugs with different mechanisms have been used to remove iron overload in thalassemia patients. This study aimed to compare the effects of Nanojade and Deferoxamine in reducing serum ferritin levels.

    Methods

    This randomized clinical trial was conducted on 41 major thalassemia patients. The selected patients were allocated to two groups by the permuted block randomization method. The first group was treated with Deferasirox (Nanojade) and the second group was treated with Deferoxamine (Desferal). All patients received the drugs at 14 mg/kg. Blood samples were collected at baseline, after 3 and 6 months after intervention. Chi-square test, Mann-Whitney U-test, and Friedman test were used for analytical statistics at the significance level of 0.05.

    Results

    51.9% of patients in the Nanojade group and 40% in the Desferal group were females. Before the intervention, no difference was observed in terms of basic and demographic information. Before the intervention, as well as 3 months, and 6 months after the intervention, none of the blood parameters in the studied groups were significantly different (p> 0.05). The overall mean ferritin levels had a significant decrease, in both groups, 6 months after the intervention (PDeferasirox = 0.001 vs PDeferoxamine = 0.043); However, in the comparison between the two groups, no significant difference was observed between the levels of ferritin and creatinine at any of the time points (p> 0.05).

    Conclusions

    Deferasirox oral tablet (Nanojade®) is as effective as an injectable form (deferoxamine (Desferal®)) in reducing serum ferritin in patients with beta-thalassemia major without causing nephrotoxic effects. Therefore, it can be a suitable alternative to its injectable form.

    Keywords: Beta-thalassemia, Deferoxamine, Deferasirox, Nanojade, Serum ferritin}
  • Tayebeh Chahkandi *, Bita Bijari, Sajjad Akbari
    Background

    Thalassemia is a common inherited anemia; and population-level screening followed by molecular evaluation is the most effective way to prevent it. Given the significance of beta-thalassemia minor and its prevalence in communities, this study aimed to identify the prevalence of beta-thalassemia minor among participants in the pre-marital screening program in Birjand City, located in South Khorasan province, Iran.

    Methods

    The study included individuals who underwent pre-marital testing between 2014 -2019 and were categorized as high-risk for beta-thalassemia based on their blood indices and medical diagnosis. Data on their blood indices and follow-up results were collected from Birjand City's health center using a pre-designed form. The data were analyzed using statistical tests to assess significance.

    Results

    Out of 35,801 couples who underwent premarital testing, 195 (390 individuals) were identified as the high-risk group for beta-thalassemia. Among these high-risk couples, 67.2% responded to iron therapy. Thalassemia prevalence was 9.7% among high-risk couples, 31.6% among individuals at actual risk, and 76% among those who underwent Prenatal Diagnosis (PND). The mean values of MCV, MCH, and Mentzer indices were significantly higher in the group that responded to iron therapy compared to the group eligible for PND.

    Conclusion

    It was demonstrated that the prevalence of beta-thalassemia carriers among marriage applicants attending the health center in Birjand City is currently low. However, the implementation and continuity of beta-thalassemia screening programs for couples in this region can effectively prevent the birth of infants with thalassemia major and prevent unexpected medical treatment expenses.

    Keywords: Beta-thalassemia, Birjand, Iran, screening}
  • Shahla Ansari Damavandi, Shirin Sayyahfar, Neda Ashayeri *, Maryam Shamspour, Masoumeh Jafari, Sarvenaz Salahi
    Background

     Patients with beta-thalassemia (BT) are more prone to infections than others, especially when they have some risk factors. Some reports showed the lower severity of Coronavirus disease 2019 (COVID-19) infection in this population.

    Objectives

     In this study, we aimed to determine the serological status of COVID-19 in BT patients.

    Methods

     This cross-sectional study was conducted in September 2020-February 2021 at Ali-Asghar Children's Hospital, Iran. All major and intermedia β-thalassemia patients dependent on blood transfusion were enrolled in this study. Demographic information, including age, gender, thalassemia type, history of splenectomy, and blood type, were recorded in a checklist. Moreover, the patients were asked about their exposure to COVID-19, and the related symptoms, such as cough, fever, headache, and anosmia, in the last six months. The enrolled cases were examined for anti-COVID-19 IgM and IgG to determine the serological status against this virus.

    Results

     The positive IgG and IgM tests against COVID-19 were in 35.7% (25/70) and 20% (14/70) of cases, respectively, while 42.9% (30/70) were either IgM- or IgG-positive. Among the serologically positive cases, six had a history of at least one symptom suspicious of COVID-19. These six included one fever, two coughs, one anosmia, one dyspnea, and one cough and anosmia. Only one of the patients was hospitalized (1%) with fever and dyspnea. No Intensive Care Unit admission or mortality was reported.

    Conclusions

     It seems that COVID-19 is more likely to be mild or asymptomatic in patients with BT.

    Keywords: Beta-thalassemia, Coronavirus Infection, Serology}
  • حدیث سلیمان زاده*، ناهید نصیری

    تالاسمی نوعی بیماری ارثی اتوزومال مغلوب است که به علت کاهش سنتز زنجیره های گلوبینی هموگلوبین رخ می دهد. در بتاتالاسمی تجمع زنجیره های α4 در پیش سازهای اریتروییدی به دنبال عدم تولید زنجیره بتا، منجر به خونسازی غیرموثر (عدم تعادل بین تکثیر و تمایز در پیش سازهای اریتروییدی مغزاستخوان) و در نهایت علایم بالینی ازجمله تاخیر و اختلال در بلوغ جسمی و جنسی، مشکلات قلبی، بدشکلی های استخوانی و هپاتواسپلنومگالی می شود. از محدودیت های درمان های رایج کنونی مانند ترانسفیوژن، شلاته کننده های آهن و پیوند آلوژن هماتوپوییتیک استم سل می توان به گرانباری آهن، نبود اهداکننده سازگار و بروز بیماری پیوند علیه میزبان اشاره کرد. در ژن درمانی بیان مداوم زنجیره بتاگلوبین در سلول های بنیادی خود بیمار القا می شود. ایده ژن درمانی از اوایل سال 1970 مطرح شد و هدف از این روش درمانی، بیان ژن معیوب در سلول هدف است به صورتی که بتواند علایم بیماری را کاهش دهد یا به طورکلی رفع کند. برای ژن درمانی دو ویکرد کلی وجود دارد: روش Integrating که در این حالت ژن موردنظر به وسیله وکتور به داخل ژنوم سلول هدف الحاق می شود و بیان مادام العمر آن را به دنبال دارد و دیگری روش Non integrating است که ژن موردنظر بدون جای گیری در ژنوم سلول هدف و به صورت سیتوپلاسمی بیان ژن را ممکن می سازد. ژن درمانی بتاتالاسمی در سال 2022 از طرف سازمان غذا و دارو، برای بیماران 12 سال به بالا که فنوتیپ Non β0/β0 دارند تاییدیه گرفته است، به نظر می رسد که این روش درمانی برای بیماران بتاتالاسمی وابسته به ترانسفیوژن خون، روش درمانی قطعی باشد.

    کلید واژگان: بتا-تالاسمی, ژن درمانی, پیوند هماتوپوئتیک استم سل, وکتور}
    Hadis Soleimanzadeh*, Nahid Nasiri

    Thalassemia is an autosomal recessive hereditary disease that occurs due to a decrease in the synthesis of Please recheck. In beta thalassemia, defects in β-globin synthesis lead to an imbalance of β- and α-globin chains and the accumulation of α4 chains in the erythroid precursor which leads to ineffective erythropoiesis, shortened red blood cell survival, and finally clinical symptoms such as delayed sexual and physical maturation, endocrine dysfunction, cardiomyopathy, liver disease, bone deformities and hepatosplenomegaly. Current treatments such as transfusion, iron chelating agents and allogeneic stem cell hematopoietic transplantation have limitations in their use, including iron overload, lack of a human leukocyte antigen (HLA) matched compatible donor, and graft versus host disease (GVHD). Gene therapy is a new therapeutic option for beta thalassemia patients that induces the continuous expression of beta globin chains in the patient’s hematopoietic stem cells. The idea of gene therapy was first proposed in the early 1970s, and the ultimate goal of this treatment method is to express the defective gene in the target cell in a way that can reduce the symptoms of the disease or eliminate them (symptoms) altogether. There are two general methods for gene therapy: the integrating vector, in which the desired gene is inserted into the genome of the target cell and its lifelong expression follows, is the non-integrating method, in which the vector doesn’t integrate into the genome of the target cell and the cytoplasmic form enables gene expression. The first beta thalassemia gene therapy was performed in France in 2006, and in this clinical trial, the first patient with the E/β0 thalassemia was treated at the age of 18. Gene therapy for beta-thalassemia has been approved by the food and drug administration in 2022 for patients aged 12 years and older who have a non β0/β0 phenotype. It seems that this therapeutic option is the definitive treatment method for blood transfusion-dependent beta-thalassemia patients.  However, this treatment method still has limitations: high cost, sensitivity of lentiviral vector production, and the possibility of integration of the vector near the proto-oncogene and its activation are some of them.

    Keywords: beta-thalassemia, gene therapy, hematopoietic stem cell transplantation, vector}
  • Atefeh Ghareghani, Marzieh Nikparvar *, Shideh Rafati, Ebrahim Eftekhar, Oranoos Ghareghani
    Background

    Iron-induced cardiomyopathy is the main cause of heart failure in patients with beta-thalassemia major (β-TM). Early diagnosis and timely cardiac iron overload (IO) therapy can improve patients’ prognosis.

    Objectives

    This study evaluated the value of exercise test parameters and high-sensitivity C-reactive protein (hs-CRP) in detecting cardiac IO in patients with β-TM.

    Methods

    Forty β-TM patients (age range:18 – 48) were enrolled in this cross-sectional study. Serum hs-CRP was measured using ELISA. Echocardiography and exercise treadmill tests were performed. Cardiac IO was determined using cardiac T2* (CT2*) magnetic resonance imaging, and patients were divided into abnormal (CT2* < 20 ms; n = 22) and normal (CT2* > 20 ms; n = 18) groups. Statistical analyses were conducted using SPSS software. The Mann-Whitney U-test was used to assess differences between the groups. The correlations of variables were evaluated using Pearson’s or Spearman’s correlation analysis. Receiver operator characteristic (ROC) curves were drawn to calculate the optimum cutoff for each test.

    Results

    We found a significantly higher level of hs-CRP (P = 0.011) and lower levels of the chronotropic index (CI) (P = 0.009) and heart rate recovery (HRR) at minutes 2 – 5 (P < 0.01) in the patients with abnormal CT2*. CT2* was inversely correlated with hs-CRP (r = -0.381, P = 0.022) and positively correlated with the CI (r = 0.346, P = 0.031) and HRR at minute 4 (HRR4) (r = 0.456, P = 0.005). ROC curve data showed diagnostic values of CI (AUC = 0.80, P = 0.005), HRR4 (AUC = 0.786, P = 0.008), and hs-CRP (0.711, P = 0.033) in predicting the severity of IO. These tests showed high sensitivity (CI = 84.6%, HRR4 = 84.6%, and hs-CRP = 85.7%) but low specificity (CI = 70.6%, HRR4 = 41.2%, and hs-CRP = 53.3%) in detecting the severity of cardiac IO.

    Conclusion

    We found that hs-CRP, CI, and HRRs were significantly associated with the severity of cardiac IO. Despite high sensitivity, these markers showed poor specificity in predicting cardiac iron deposition in β-TM patients.

    Keywords: Iron Overload, Beta-thalassemia, C-reactive Protein, Exercise Test, Echocardiography}
  • Marwah Khalaf Saad, Fereshteh Javaheri Tehrani, Shabnam Shariatpanahi, Zahra Abedini, Maliheh Nasiri
    Introduction

    Major β-Thalassemia is one of the most common hereditary anemias in the world and is a health problem associated with the absence or reduction of globin chain production. Self-efficacy helps adolescents with chronic illness to strength their ability to handle the routine tasks and to achieve treatment goals. Because of the importance Major β-Thalassemia in adolescents and its effects on their quality of life, we decided to do this study with the aim of “Determining self-efficacy and its related factors in adolescents Major β-Thalassemia referring to selected hospital in Tehran”.

    Methods

    The present study used a descriptive comparative cross-sectional design on 100 adolescents with Major β-Thalassemia referring to Shohadaye Tajrish hospital in Tehran in 2022. We used a census design to collect data in a fixed duration and in three work shifts in the morning, evening and night in the relevant units. The data collection tools included of demographic and Self-Efficacy Questionnaire for Children (SEQ-C). The collected data were analysed by SPSS Software version 20 via statistical tests included of Pearson or Spearman coefficient, t test and ANOVA test.

    Results

    The average age of the participant adolescents were 15.40 ± 2.22. The results of the study showed that the mean score of academic, social and emotional self-efficacy were 26.17±3.91, 24.83±5.33 and 24.49±4.75 respectively. The score of self-efficacy of the participants were approximately in the average range in the three dimensions of the SEQ-C. However, the score of academic self-efficacy was slightly higher than the average range. There are not any significant relationships between the demographic variables and any dimensions of self-efficacy (P-value>0.05). However, the results of T-Test showed significant relationships between the social self-efficacy score and positive history of splenectomy (P-value=0.018).

    Conclusions

    Based on the results of the study, the self-efficacy score of participants in this study were approximately in the average range, therefore, these results showed that, health staffs such as nurses should promote the self-efficacy of adolescents with Major β-Thalassemia through health education.

    Keywords: Adolescents, Self-Efficacy, Beta Thalassemia}
  • Shahla Ansari Damavandi, Mozhgan Parsaee, Milad Ahmadi Marzaleh, Maryam Shamspour *
    Background

    Thalassemia is the most common inherited anemia in worldwide. Heart failure is the most common cause of mortality and morbidity in patients with major and intermedia β-thalassemia. This study aimed to evaluate the effect of oral administration of L-arginine on the improvement of systolic Pulmonary Artery Pressure (PAP) and cardiac function in patients with major and intermedia β-thalassemia.

    Methods

    This randomized clinical trial was done on 88 patients with β-thalassemia admitted to Ali Asghar Hospital, Tehran, Iran between 2020 and 2021. Echocardiography was performed for all the patients before the intervention. Afterwards, the patients were randomly divided into two groups of placebo and L-arginine. The patients underwent echocardiography after eight weeks and were compared with respect to the results.

    Results

    The mean blood transfusion interval was 20.21 d in the placebo group and 17.14 d in the L-arginine group (P=0.082). The results revealed no significant difference between the two groups regarding the mean levels of Hemoglobin (Hb) and ferritin, frequency of splenectomy. However, the mean PAP significantly de-creased from 32.88 to 26.02 in the L-arginine group (P=0.009), but did not change in the placebo group. Nonetheless, no significant change was observed in the mean Ejection Fraction (EF) before and after L-arginine administration.

    Conclusion

    L-arginine administration prevented the increase of PAP and was effective in preventing cardio-vascular disorders including increased systolic PAP in patients with major and intermedia B-thalassemia. How-ever, the results have to be confirmed in further studies with larger sample sizes.

    Keywords: Beta-thalassemia, L-arginine, Systolic pulmonary artery pressure, Ejection fraction, Cardiovascular function}
  • مجید نادری، سحر نجفی، محمدحسین احمدی، فریبا رمضانی، سعیده یعقوبی، یونس صادقی*
    Majid Naderi, Sahar Najafi, Mohammad Hossein Ahmadi, Fariba Ramezani Siakhulak, Saeedeh Yaghoubi, Younes Sadeghi-Bojd*
    Background &  Objectives

     Beta-thalassemia is one of the complex diseases that causes many social and economic problems for the patient and his family. This study aimed to investigate factors influencing the birth of thalassemia (intermedia or major) in family members with thalassemia major in Sistan and Baluchistan province.

    Materials & Methods

    This descriptive-analytical study was conducted by census sampling on 48 families of thalassemia major patients with at least two children with thalassemia (intermedia or major) in their members. Data were collected through direct interviews and a review of patients' documents. The results were analyzed by SPSS (version 22) and Mann-Whitney U, Independent t-test, Wilcoxon, and Chi-square tests.

    Results

     In this study, statistical evaluations showed that the birth of thalassemia in family members with thalassemia major whose mothers are housewives was 100% and in families that had no premarital counseling was 91.7%. There was a significant relationship between variables related to mothers' awareness of thalassemia, including their place of residence and Sistani and Baluchestani ethnics, and the birth of thalassemia in family members with thalassemia major (in both cases, P-value = 0.05); However, there was no significant relationship between other variables related to mothers' awareness such as age groups and maternal education with the birth of thalassemia in family members with thalassemia major (P-Value = 0.98 and P-Value = 0.22, respectively).

    Conclusion

      Informing and educating before marriage for high-risk families with thalassemia children, as well as financial support for low-income families can inform parents, prevent the birth of thalassemia, and improve the quality of life of these patients.

    Keywords: Beta-Thalassemia, Awareness, Prenatal diagnosis}
  • عاطفه فرجادی، سیده زهرا معصومی زاده، بهناز اندشتی *
    سابقه و هدف

    بتاتالاسمی شایع‌ترین بیماری ارثی تک ژنی در سراسر دنیاست که با الگوی اتوزومی مغلوب به ارث می‌رسد و در اثر جهش در ژن بتاگلوبین ایجاد می‌شود. از علایم ناقلین بتا تالاسمی، کاهش شاخص‌های خونی گلبول‌های قرمز و تغییراتی در میزان هموگلوبین از جمله پایین بودن هموگلوبین A1 و بالا بودن هموگلوبین A2 را می‌توان نام برد. هدف این تحقیق، یافتن رابطه‌ای بین مقادیر این شاخص‌ها و نوع جهش‌های ژنی منجر به بیماری می‌باشد که می‌تواند به عنوان روش تشخیص سریع نوع جهش در غربالگری اولیه ناقلین و تشخیص‌های پیش از تولد به کار رود.

    مواد و روش‌ها

    در این مطالعه توصیفی تحلیلی پس از تکثیر و تعیین توالی ژن بتاگلوبین به روش سانجر از جمعیت 200 نفری ناقلین بتا تالاسمی استان خوزستان، ارتباط جهش‌های ژن با اندازه شاخص‌های گلبول‌های قرمز افراد به روش آماری تجزیه و تحلیل واریانس(Anova) و به کمک نرم‌افزار 26SPSS مورد بررسی آماری قرار گرفت.

    یافته‌ها

    نتایج نشان داد که جهش IVSII-1(G>A)با 5/22% فراوانی شایع‌ترین جهش در این جمعیت بوده و هم‌چنین از نظر آماری ارتباط معنا‌داری بین تغییرات میانگین شاخص MCV افراد نسبت به نوع جهش‌آن‌ها وجود دارد. به طوری که بیشترین میانگین این شاخص با مقدار 7/3 ± 4/65 در جهش IVSI-110(G>A) مشاهده شد.

    نتیجه گیری

    یافته‌های تحقیق حاضر در راستای بسیاری از مطالعه‌های انجام گرفته در این زمینه بوده و می‌تواند به عنوان یک راهنما جهت امکان تشخیص سریع نوع جهش در مراکز تشخیصی و درمانی به کار رود.

    کلید واژگان: بتا تالاسمی, شاخص های اریتروسیتی, گلبول های قرمز}
    A. Farjadi, S.Z. Masoomizadeh, B. Andashti *
    Background and Objectives

    Thalassemia is the most common monogenic disease worldwide inherited in autosomal recessive manner. Beta-thalassemia is caused by mutations in beta-globin gene. It is characterized by reduction in red blood cell indices including low MCV, low MCH, high RBC count, low HbA1 and high HbA2. Considering these symptoms, finding a relation between erythrocyte indices and kind of mutations can be used as a rapid method in mutation diagnosis and initial screening of carriers.

    Materials and Methods

    In this descriptive-analytical study after DNA extraction from 200 beta- thalassemia minors in Khuzestan province by salting out method, we amplified and sequenced beta-globin gene by Sanger sequencing. Finally, we analyzed statistically the beta-globin gene mutations and erythrocyte indices association by SPSS.

    Results

    Our results showed that IVSII-1(G > A) is the most common mutation with 22.5% frequency in this population of beta-thalassemia carriers. We found that MCV index variations have a meaningful association with beta-globin gene mutations and the highest mean of MCV (65.4 ± 3.7) was observed in IVSI-110(G > A) mutation.

    Conclusions

    The results comply with many other studies performed in this field and can be used for rapid detection of mutation in carrier parents and prenatal diagnosis.

    Keywords: beta-Thalassemia, Erythrocyte Indices, Red Blood Cells}
  • الهه شمس، مریم الله دادیان، زهرا یادگاری بهارانچی، مژگان حرف شنو
    زمینه و هدف

    بتا تالاسمی یکی از شایع‌ترین اختلالات ارثی در ایران است. تولد نوزاد مبتلا به تالاسمی مشکلات اجتماعی و اقتصادی زیادی برای والدین و سیستم بهداشتی و درمانی به همراه دارد. امروزه برنامه‌های غربالگری قبل از تولد، جهت تشخیص بتا تالاسمی در کشور بسیار مورد توجه قرار گرفته است. هدف از این مطالعه تعیین و نمونه‌برداری پرزهای کوریونی برای تشخیص بتا تالاسمی ماژور در سه ماهه اول بارداری در جنوب غرب ایران بود.

    روش بررسی

    این  یک مطالعه توصیفی آینده نگر و کاربردی می باشد که در  سال 1400 بر روی زوج‌های مبتلا به تالاسمی مینورکه به آزمایشگاه ژنتیک نرگس دراهواز مراجعه کردند، انجام شده است. به جهت اقدامات پیشگیرانه از افراد داوطلب نمونه‌خون گرفته شد. سپس زوج‌هایی که دارای  HbA2 بالای 5/3 و در هفته 10 تا 13 بارداری بودند، جهت ارزیابی سلامت جنین ادامه درمان را با انجام عمل نمونه‌برداری پرزهای کوریونی پیگیری کردند. عمل نمونه‌برداری پرزهای کوریونی از ناحیه شکم زنان باردار  به صورت بی حس موضعی به وسیله سوزن انجام شد و حدود 105 سی‌سی از پرزهای ناحیه تروفوبلاست جفت جمع‌آوری شد. داده‌های جمع‌آوری شده با استفاده از آزمون‌های آماری تی‌تست و مجذور کای تجزیه وتحلیل شدند.

    یافته‌ها:

     در مجموع 91 نفر از زنان باردار عمل نمونه‌برداری پرزهای کوریونی انجام دادند. 38نفر (8/41 درصد) تالاسمی مینور، 25 نفر (5/27 درصد) تالاسمی ماژورداشتند،رابطه خویشاوندی بین زوجین نیز بررسی شد و ارتباط معنی‌داری بین رابطه خویشاوندی و بروز تالاسمی ماژور نبود. 20 نفر (30درصد) فرزند قبل مبتلا به تالاسمی ماژور  و 60 نفر (66درصد) فرزند مبتلا به تالاسمی مینور داشتند. جنین‌های مبتلا به تالاسمی ماژور در مادرانی با گروه خونی A+،38نفر (42 درصد) وO+35نفر (4/38 درصد)، بیشتر دیده شد. شیوع تالاسمی ماژور در قوم فارس بیشترین 39نفر (8/42درصد) و کمترین در قوم کرد 1نفر (1درصد) به دست آمد.

    نتیجه‌گیری:

     تکنیک نمونه‌برداری پرزهای کوریونی یک روش دقیق و بدون خطر قابل توجهی برای مادر و جنین است. با این روش می‌توان برای تشخیص بتاتالاسمی قبل از تولد بهره‌مند شد.

    کلید واژگان: نمونه برداری پرزهای کوریونی, تشخیص قبل از تولد, بتا تالاسمی}
    E .Shams, M. AllahDadian, Z. Yadegari Baharanchi, M. Harfsheno
    Background & aim

    Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system. Nowadays, prenatal screening programs to detect beta thalassemia have received much attention in the country. The aim of the present study was the determination and sampling of chorionic villi for the diagnosis of beta-thalassemia major in the first trimester of pregnancy in south-western Iran.

    Methods

    The present descriptive-prospective and practical study was conducted in 2021 on couples suffering from thalassemia minor and referred to the Narges Genetics Laboratory in Ahwaz, Iran. For preventive measures, blood samples were taken from volunteers. At that point, the couples who had HbA2 above 3.5 and were in the 10th to 13th week of pregnancy continued the treatment by performing chorionic villus sampling in order to evaluate the health of the fetus. Chorionic villus sampling was performed under local anesthesia with a needle from the abdominal area of pregnant women, and about 5-10 cc of placental trophoblast villi were collected. The collected data were analyzed using t-test and chi-square statistical tests.

    Results

    A total of 91 pregnant women underwent chorionic villus sampling. Thirty-eight individuals (41.8%) had thalassemia minor, 25 individuals (27.5%) had thalassemia major, the familial relationship between couples was also examined, and there was no significant association between the familial relationship and occurrence of thalassemia major. 20 people (30%) had a child with thalassemia major and 60 people (66%) had a child with thalassemia minor. Fetuses with thalassemia major in mothers with blood type A+, 38 subjects (42%) and O+ 35 subjects (38.4%), the prevalence of thalassemia major was higher in the Fars subjects, the highest in 39 subjects (42.8%), and the lowest was the Kurdish people with one person (1 percent).

    Conclusion

    The technique of chorionic villus sampling is an accurate method with no significant risk to both mother and fetus. This method can be used to diagnose beta thalassemia before birth.

    Keywords: Chorionic villus sampling, Prenatal diagnosis, Beta thalassemia}
  • Nazli Servatian, Saeid Abroun *, Seyed Abolhassan Shahzadeh Fazeli, Masoud Soleimani
    Objective
    Beta-thalassemia is a group of inherited hematologic. The most HBB gene variant among Iranianbeta-thalassemia patients is related to two mutations of IVSII-1 (G>A) and IVSI-5 (G>C). Therefore, our aim ofthis study is to use the knock in capability of CRISPR Cas9 system to investigate the correction of IVSII-1 (G>A)variant in Iran.
    Materials and Methods
    In this experimental study, following bioinformatics studies, the vector containingPuromycin resistant gene (PX459) was cloned individually by designed RNA-guided nucleases (gRNAs), andcloning was confirmed by sequencing. Proliferation of TLS-12 was done. Then, the transfect was set up by thevector with GFP marker (PX458). The PX459 vectors carrying the designed gRNAs together with Single-strandedoligodeoxynucleotides (ssODNs) as healthy DNA pattern were transfected into TLS-12 cells. After taking the singlecell clones, molecular evaluations were performed on single clones. Sanger sequencing was then performed toinvestigate homology directed repair (HDR).
    Results
    The sequencing results confirmed that all three gRNAs were successfully cloned into PX459 vector. In thetransfection phase, The TLS-12 containing PX459-gRNA/ssODN was selected. Molecular evaluations showed thatthe HBB gene was cleaved by the CRISPR/Cas9 system, that indicates that the performance of non-homologous endjoining (NHEJ) repair system. Sequencing in some clones cleaved by the T7E1 enzyme showed that HDR was notconfirmed in these clones.
    Conclusion
    IVS-II-1 (G> A) mutation, which is the most common thalassemia mutation especially in Iran, the CRISPR/Cas9 system was able to specifically target the HBB gene sequence. This could even lead to a correction in themutation and efficiency of the HDR repair system in future research.
    Keywords: Beta-Thalassemia, Gene therapy, Homology Directed Repair, Non-Homologous End Joining}
  • معصومه یزدی، آزیتا آذرکیوان، فهیمه رنجبر کرمانی، مجید شهابی*
    سابقه و هدف

    بیماران تالاسمی ماژور، دچار آنمی شدید بوده و برای بقا وابسته به تزریق خون منظم می باشند اما تزریق خون باعث ایجاد مشکلاتی از قبیل سرباری آهن در این بیماران می شود. هپسیدین پلی پپتیدی است که تنظیم کننده اصلی هومیوستاز آهن می باشد. اخیرا پلی مورفیسم هایی در ژن کدکننده هپسیدین شناسایی شده است که در سرباری آهن در بافت ها دخیل هستند. هدف از مطالعه، بررسی ارتباط واریانت های rs10421768 ، rs8101606 و rs66868858 در ژن هپسیدین و سرباری آهن در بیماران بتاتالاسمی ماژور بود.

    مواد و روش ها:

    در این پژوهش مقطعی، 100 نمونه خون بیماران تالاسمی ماژور مربوط به درمانگاه تالاسمی ظفر در سال 1400 جمع آوری شد. پس از استخراج DNA ژنومی، ژنوتیپ پلی‎مورفیسم‎ها با روش High resolution melt curve analysis تعیین شد. نتایج ژنوتیپ با تعیین توالی تعدادی از نمونه ها معتبرسازی شد. برای ارتباط بین ژنوتیپ های مختلف و شاخص های سرباری آهن از آزمون کای دو استفاده شد. مقدار 05/0 p< نشان دهنده ارتباط معنادار در نظر گرفته شد.

    یافته ها

    برمبنای مقدار فریتین سرم ng/mL 1000≥ ، تعداد 72 نفر (72%) از بیماران دارای سرباری آهن بودند. به علاوه مطابق معیارهای فدراسیون بین‎المللی تالاسمی، تعداد 33 نفر (33%) از بیماران مبتلا به سرباری آهن قلبی و 63 نفر (63%) دچار سرباری آهن کبدی بودند. هیچ ارتباط معنا‎داری بین ژنوتیپ‎های مختلف و میزان فریتین، آهن قلب و آهن کبد یافت نشد.

    نتیجه گیری

    هر چند در این مطالعه ارتباطی بین هر کدام از پلی‎مورفیسم‎های مورد بررسی و سرباری آهن یافت نشد، ممکن است این پلی‎مورفیسم‎ها به صورت یک هاپلوتیپ واحد در سرباری آهن دخالت داشته باشند که نیازمند مطالعه های بیشتر است.

    کلید واژگان: تالاسمی بتا, هپسیدین, سرباری آهن, پلی‎ مورفیسم}
    M. Yazdi, A. Azarkeivan, F. Ranjbar Kermani, M. Shahabi*
    Background and Objectives

    Patients with β-thalassemia major are dependent on regular blood transfusion. Iron overload is the main complication of transfusion which damages vital organs. Hepcidin, a peptide hormone, is the key element of body iron hemostasis. Single nucleotide polymorphisms (SNPs) within the hepcidin gene alter its function and thereby iron status. The aim of this study was to determine the association of three SNPs of rs10421768, rs8101606 and rs66868858 with iron overload in thalassemia patients.

    Materials and Methods

    In  this cross-sectional study, one hundred thalassemia patients were recruited. Patient clinical and laboratory data including serum ferritin, liver and heart iron deposition were collected from their files. SNPs genotypes were determined by high resolution melt curve analysis. Association between genotypes and iron overload markers was estimated by chi-square test considering p < 0.05 as statistically significant.

    Results

    Based on serum ferritin > 1000 ng/mL, 72% of patients were iron overloaded and 33% and 63% had abnormal heart and liver iron, respectively. Statistical analysis revealed no relation between SNPs genotype and iron overload.

    Conclusions 

    Although we could not find any signification relation, it is probable that the effect of these polymorphisms on iron overload applied through a specific haplotype consisting of several SNPs.

    Keywords: beta-Thalassemia, Hepcidin, Iron Overload, Polymorphism}
  • Zeynab Gharehdaghi, Arghavan Hosseinpouri, Narges Obeidi
    Introduction

    Heterozygote β-thalassemia is called carrier or β-thalassemia trait (BTT). Carriers have no clinical symptoms but sometimes have a mild anemia. They can often be identified with MCV<80 fl, MCH<27 pg and HbA2> 3.5 %. However, these tests are not enough to diagnose some unexpected beta-globin mutations in premarital or prenatal screening.

    Case Presentation

    The mentioned case was one of the most common silent β-thalassemia mutations (promoter nt-101C>T).

    Conclusion

    It was the first report from Fars (Iran) and the second one from Iran. The case had normal hematologic indices and borderline hemoglobin A2 values that may be mistakenly interpreted as normal. The presented case showed that electrophoresis and PCR sequencing methods should be applied for screening thalassemia.

    Keywords: beta-Thalassemia, Genetic Carrier Screening, Heterozygote, Hematological Diseases, Anemia}
  • Bahram Darbandi, Nasim Ghorbannezhad, Adel Baghersalimi, Shahin Koohmanaee, Afagh Hassanzadeh Rad, Zahra Atrkar Roshan, Saeid Anvari, Setila Dalili*, Manijeh Tabrizi
    Background

    Atherosclerosis is an important cardiovascular disorder in beta-thalassemia major patients. The present study aimed to predict factors of atherosclerosis in children with beta-thalassemia major.

    Materials and Methods

    This cross-sectional study was conducted on 36 patients with beta-thalassemia major and 36 healthy children as the control group. The carotid intima-media thickness (CAIMT) and osteoprotegerin (OPG) were compared between groups.

    Results

    The mean age of the patients in the case and control groups were 13.5 ± 3.7 and 13 ± 3.1 years old, respectively. Significant differences in CAIMT in the right (P = 0.001) and left (P = 0.001) arteries were recorded between the two groups. The mean serum OPG in the beta-thalassemia group was significantly higher than the control group (3.9 ng/ml and 1.4 ng/ml, respectively, P=0.001).

    Conclusion

    CAIMT is a non-invasive method for diagnosing atherosclerosis. According to the significant difference between groups, serum OPG could be helpful in the diagnosis of early atherosclerosis in beta-thalassemia major.

    Keywords: Atherosclerosis, Beta-Thalassemia, Osteoprotegerin}
نکته
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