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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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. 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. 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. 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.

 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.

 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.

 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.

 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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

 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.

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

 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.

 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.

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

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.

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.

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.

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.

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.

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”.

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.

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).

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.

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.

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.

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.

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.

 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.

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.

 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).

  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.

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. 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). 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. 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.

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.

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

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.

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.

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.

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).

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.