Demographic data of patients with β-thalassemia major recorded in the electronic system in the north of Iran, 2016

Background: Major thalassemia prevention project in Iran began in 1997. Mazandaran Province in northern Iran took effective steps in preventing the birth of patients with thalassemia major in the country. We report on the demographic status of patients with thalassemia major registered in the electronic system of Mazandaran Province in Iran.Methods: The web-based application of the Mazandaran Thalassemia Registry (THRegistry) was designed based on the Net Framework platform in VB.Net and the 2014Sql Server database. The information source included clinical records in 14 thalassemic wards of the Mazandaran province hospitals. Epidemiological data of patients and date of transfusion, blood group, educational status, employment, marital status and having children were recorded.Results: The study population was 1,725 patients including 889 (51.5%) women and 836 (48.5%) men with a mean age of 30±9.6 years. A total of 188 patients born have been identified after the launch of the country's disease prevention plan in 1997. Prenatal diagnosis (PND) services were not used in 99 cases, PND result was mistaken in 6 other cases and in the remaining 5 cases PND was performed. A total of 1,314 patients (76.2%) were blood transfusion dependent thalassemia (TDT). Mean haemoglobin level in male and female patients was 9.4±6.3 and 9.01±5.1/100 g/dl, respectively. The mean age of onset of transfusion was 4±6.3 years. A total of 382 cases (22.1%) of married patients had a child of their own.Conclusions: The system is a good resource to design descriptive and cohort studies, survival studies, therapeutic planning, and observation of the success of the major thalassemia prevention project

Potential Effects of Silymarin and Its Flavonolignan Components in Patients with β

Major β-thalassemia (β-TM) is one of the most common inherited hemolytic types of anemia which is caused as a result of absent or reduced synthesis of β-globin chains of hemoglobin. This defect results in red blood cells lysis and chronic anemia that can be treated by multiple blood transfusions and iron chelation therapy. Without iron chelation therapy, iron overload will cause lots of complications in patients. Antioxidant components play an important role in the treatment of the disease. Silymarin is an antioxidant flavonoid isolated from Silybum marianum plant. In the present study, we reviewed clinical and experimental studies investigating the use of silymarin prior to September 1, 2015, using PubMed, ISI Web of Knowledge, Science Direct, Scopus, Ovid, and Cochrane Library databases and we evaluated the potential effects of silymarin on controlling the complications induced by iron overload in patients with β-TM. Based on the results of the present study, we can conclude that silymarin may be useful as an adjuvant for improving multiple organ dysfunctions

Decrease of Hepatitis C Burden in Patients With Transfusion Dependent Beta Thalassemia Major, Thalassemia Research Center, 1995 – 2014

Background: Chronic hepatitis C infection used to be one of the most important burdens on patients with transfusion-dependent beta thalassemia major (TDTM). Chronic active hepatitis reduces quality of life, and liver cirrhosis and cancer shorten life expectancy in many cases. Objectives: We compared the characteristics of our patients at the Thalassemia Research Center (TRC) regarding hepatitis C infection at two time points. Patients and Methods: A review was conducted in a cohort of 390 TDTM patients with a history of at least one blood transfusion in 2014. Type of treatment protocol for hepatitis C virus (HCV) and the number of courses were defined. Descriptive statistics were performed using SPSS software (V16). Results: Screening for HCV started in 1995 at the TRC. Seventy-seven (15%) patients were antibody-positive in 1995. Tests for virus detection were not available at the time. Patients have been examined using serum AST, ALT, bilirubin, PT, PTT, and liver biopsy, and 45 were treated using alpha interferon alone. A second liver biopsy was performed at the end of treatment for 21 patients, and a blinded pathologist compared the histology according to the Knodell score. According to normalization of liver enzymes, the treatment was successful (McNemar test, P < 0.02). Based on the Knodell score, 54%, 31%, and 11% had complete, partial, and no response, respectively. A quantitative test for viremia became available thereafter. Thirteen patients who were resistant to alpha interferon have been treated using “Pegasys”™ ± ribavirin. Ten patients responded; however, three have been resistant and are still viremic. Twenty-seven patients received no treatment. Twenty-two (81.4%) had negative PCR tests. Five viremic patients refused treatment. A second screening test for HCV antibody was introduced in 2001, and, since then, annual screening for HCV antibody has been performed for all patients. No new case has been found since 2001. During the follow-up period, two deaths have been recorded in the cohort; none was a direct consequence of liver disease. Both patients had negative PCR tests for viremia. In 2014, there were 72 patients (52% men) with positive antibody tests, with a mean age of 30.5 ± 5.7 years. They mean age at the first blood transfusion was 2.8 ± 2.5 years. At the time of publishing, 15 patients (3.8%; 95% confidence interval 2 - 5.6) had viremia. Five patients had documented liver cirrhosis. Conclusions: The prevalence of hepatitis C virus has decreased dramatically owing to primary prevention (donor blood screening and discarding infected blood) and antiviral treatment of affected patients. Better clinical management with iron chelating agents and supportive therapy for cirrhotic patients is also in place

Ebselen: A promising therapy protecting cardiomyocytes from excess iron in iron-overloaded thalassemia patients

Iron-overload-associated cardiomyopathy has been one of the primary causes of mortality in thalassemia patients with iron burden. There is growing evidence citing the beneficial effects of ebselen as an antioxidant selectively blocking the divalent metal transporter 1 (DMT-1) to deter iron ingress into cardiomyocytes, raising internets in viewing this component in this population in order to treat and even prevent cardiomyopathy occurring from iron surplus. In this article, we reviewed the potential advantageous effects of ebselen in thalassemia patients who suffer from iron excess, susceptible to cardiomyopathy induced by iron overload. A systematic search in several databases, including PubMed, Scopus, and Web of Science, was conducted to explore the role of ebselen in controlling iron-overload-related cardiomyopathy in thalassemia patients by the keywords of Ebselen AND iron. The inclusion criteria were English-written preclinical and clinical studies investigating the efficacy and side effects of ebselen in an iron-overload context. After searching the databases, 44 articles were found. Next, of 19 published articles, 3 were included in this article. After reviewing the references of the included studies, no articles were added. In conclusion ebselen can be a promising adjuvant therapy in patients with thalassemia alongside the standard treatment with iron chelators, particularly in severe cases with cardiomyopathy, due to falling iron inflow by inhibiting DMT-1 and increasing ferroportin-1 expression and antioxidant properties. However, clinical studies need to be carried out to reach a definite conclusion

Frequency of Beta-globin gene mutations in beta-thalassemia patients from east of Mazandaran

(Received 6 Aug, 2008; Accepted 3 Dec, 2008) Abstract Background and purpose: Beta-thalassemia is the most common inherited disorder in the world, especially in Iran. According to Iranian thalassemia society registry, 18616 thalassemia patients now living in Iran, which Mazandaran and Fars provinces have the most patients. Previous reports have shown that the frequency of b-thalassemia carriers is more than 10% in Mazandaran province. Although b-thalassemia is very heterogenous in the molecular level, but in each population, 5 to 10 mutations are more common. In this research common mutation in eastern area of Mazadaran province was investigated. Materials and methods: 5 to 10 ml peripheral blood samples were collected from volunteer patients who were referred to Boali Sina Hospital in Sari. DNA was extracted from blood, then 20 different mutations were screened and detected using two different methods, ARMS-PCR and Reverse-Dot Blot in Thalassemia Research Center in Sari and Amir Kola Thalassemia Center. Results: From 240 chromosomes investigated in 120 b-thalassemia patients in total, 96.25% mutations were identified. 13 different mutations were identified from 231 chromosomes. Among different mutations investigated, IVSII-1G>A was detected as the most common with frequency of 68/3%, which was homozygous in 64 individuals (53/3%) and compound heterozygous with other mutations in 34 individuals (28/3%) respectively. Mutations C8(-AA), codon22(G>A)/ FSC 22/23/24(-7bp), codon 30(G>A), and IVSII-1G>A were identified in 83% of chromosomes which were studied (200 chromosomes from 240). Conclusion: Mutation IVSII-1G>A is the most common mutation in northern provinces (Gilan, mazandaran, Golestan) in recent study. Also, comparison of these results with the similar finding from other provinces showed that the distributions of mutations in the northern area are different with northwest, south or southeast of the country

Is Quantitative HBsAg Measurement a Reliable Substitute for HBV DNA Quantitation?

Background: Hepatitis B surface antigen (HBsAg) is one of the main proteins of HBV envelop and its serum quantitative measurement is the most common quantitative test for monitoring the progress of Chronic Hepatitis B. Although measurement of serum HBV DNA copy number is a gold standard method for displaying viral load, the test is relatively expensive and it is not readily available everywhere in the world, while quantitative detection of HBsAg is fairly easy and inexpensive. The aim of this study was to investigate the correlation between serum HBsAg level and HBV DNA copy number in patients with chronic HB. Materials and Methods: Quantitative HBsAg, quantitative HBV DNA, aspartate aminotransferase (AST) and alanine aminotransferase (ALT) serum levels were tested in 74 patients with chronic hepatitis B infection - who were HBsAg-positive for more than 6 months. In order to find any correlation between the results of these methods, Spearman and Kruska-Wallis correlation coefficient tests were applied. Results: No significant correlation was observed between quantitative HBsAg and HBV DNA measurements. Also, we could not find any correlation between serum HBsAg and ALT levels. But, serum HBV DNA content and AST level had a significant positive correlation. Conclusion: There are many factors affecting the correlation between serum HBV DNA copy number and HBsAg level such as genotype of HBV virus, phase of infection, methods of measurement, HBeAg status, and drug and types of treatment procedures. Therefore, these factors should be considered in further studies dealing with the correlation between quantitative HBV DNA and HBsAg tests

Two risk factors for hypozincemia in diabetic β-thalassemia patients: Hepatitis C and deferasirox.

Background and aimHypozincemia is a prevalent adverse consequence in diabetes mellitus (DM) and β-Thalassemia patients. We aimed to evaluate the level of serum zinc in β-thalassemia patients with DM and a risk assessment for hypozincemia.MethodsThe study population included transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) with overt DM (fasting plasma glucose (FPG) ≥126 mg/dL, and/or 2-h plasma glucose≥200 mg/dL). Serum zinc concentration was measured by the colorimetric method, and the values below 70 μg/dL were defined as hypozincemia. Myocardial and liver T2*-weighted magnetic resonance imaging (MRI T2*, millisecond [ms]) were valued by a free contrast MRI. The demographic, clinical, paraclinical, and laboratory data were also recorded. The data belonged to the period from December 2018 until December 2020.ResultsOf 64 diabetic β-thalassemia patients, 41 cases had zinc data in their medical files (aged 38 ± 9 years, 48.8% female). 78.05% of patients (n = 32) were TDT, and 21.95% were NTDT (n = 9). The mean ± standard deviation of zinc level was 110.2 ± 127.6 μg/dL. The prevalence of hypozincemia was 9.76%, 95% confidence interval [CI] 0.27 to 19.24 (four cases). After controlling age, the odds of hypozincemia for using deferasirox (DFX) was 8.77, 95% CI 0.60 to 127.1. In β-thalassemia patients, the age-adjusted risk of hypozincemia was calculated at 15.85, 95% CI 0.47 to 529.3 for hepatitis C. The adjusted risk of hypozincemia based on age for antacid use was 6.34, 95% CI 0.39 to 102.7.ConclusionIn light of this study, as well as hepatitis C, using DFX and antacids is associated with a high risk of hypozincemia amid diabetic β-thalassemia cases. However, upward bias should be taken into consideration

Factors Related to Reduced Bone Density in β-Thalassemia Major Patients: Mazandaran Thalassemia Registry

Introduction: OsteoPenia and osteoPorosis are known to be one of the main comPlications of β-thalassemia major (β-TM). The aim of this study was to determine the factors associated with decreased bone density of these Patients. Methods: Lumbar and femoral neck bone mineral density (BMD) in β-TM Patients characterized via Dual-energy X-ray absorPtiometry (DXA) to PinPoint the association of iron chelators, diabetes mellitus, serum ferritin above 3000 ng/mL, hemoglobin below 8 gr/dl, using hydroxyurea, liver siderosis and moderate to severe hePatic and cardiac siderosis with BMD. The information was collected from the thalassemia registry in 2019 and statistical analysis was Performed by STATA-13 software. Results: Out of 1959 ParticiPants with β-thalassemia major registered in the registry, 139 ones (7.09%) had bone mineral density (53 males and 86 females). The Prevalence of abnormal bone density in the lumbar and femoral neck was (52.48 to 47.66) 57.5 and (40.18 to 57.52) 48.85 Percent, resPectively. After adjusting for the effects of Possible interventions, the odds ratio of abnormal bone density in the Patients consuming hydroxyurea and deferasirox were 0.24 (0.03 to 1.73) and 0.25 (0.03 to 1.69), resPectively. The highest odds were 8.21 (0.18 to 360.22), and 6.72 (0.60 to 74.83) for moderate to severe cardiac and hePatic dePosition, resPectively. Conclusion: The Prevalence of osteoPenia and osteoPorosis is high among thalassemia major Patients. ConsumPtion of hydroxyurea and deferasirox is the most imPortant Protective factor and moderate to severe cardiac and hePatic siderosis are the most imPortant risk factors for abnormal bone density