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    A Case of Non-Traumatic Avascular Necrosis of Femur in Case of Transfusion-Dependent Thalassemia.
    J Orthop Case Rep 2017 May-Jun;7(3):38-40
    Department of Pediatric Hematology-Oncology, Indraprastha Apollo Hospital, New Delhi, India.
    Introduction: Avascular necrosis of the head of femur (AVNF) has frequently been reported with sickle cell anemia but is not commonly associated with beta thalassemia.

    Case Report: We report a case of 14-year-old male with transfusion-dependent thalassemia (TDT) and hepatitis C, who developed bilateral atraumatic AVNF requiring surgical correction. The likely etiopathogenesis and the review of literature for this uncommon finding are discussed. Read More

    Impact of annotation error in α-globin genes on molecular diagnosis.
    PLoS One 2017 19;12(10):e0185270. Epub 2017 Oct 19.
    Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University (Formerly: University of Dammam), Dammam, Saudi Arabia.
    Background: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of β-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to support the therapeutic aims in β-thalassemia major, by identifying specific modulators for the reactivation of fetal hemoglobin production. Hence, accurate identification of the variants in α-globin genes is crucial for the proper diagnosis, treatment and genetic counseling. Read More

    β-thalassemia minor, carbohydrate malabsorption and histamine intolerance.
    J Community Hosp Intern Med Perspect 2017 Oct 19;7(4):227-229. Epub 2017 Sep 19.
    Clinical Institute of Medical and Chemical Laboratory Diagnosis, Medical University of Graz, Graz, Austria.
    Background: β-thalassemia minor is characterized by reduced β-haemoglobin chain synthesis and sometimes mild anaemia, although carriers of β-thalassemia minorare usually clinically asymptomatic.Nonspecific abdominal complaints may be caused by gastrointestinal carbohydrate malabsorption (lactose and fructose) and/or malabsorption of biogenic amines (histamine), or proteins (gluten). Objectives: We report on two patients with β-thalassemia minor suffering nonspecific abdominal symptoms due to a carbohydrate and histamine malabsorption. Read More

    Acceptance towards giving birth to a child with beta-thalassemia major - A prospective study.
    Taiwan J Obstet Gynecol 2017 Oct;56(5):618-621
    Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong Special Administrative Region.
    Objective: To explore the acceptance of pregnant Chinese women on giving birth to a child with beta-thalassemia major.

    Materials And Methods: Women's acceptance on having a child with beta thalassemia major was assessed using standard gamble metrics during an interviewer-administered survey on 309 women recruited in the antenatal clinic. Utility scores were determined and the association with sociodemographic factors was assessed. Read More

    Evaluation of serum levels of C3 and C4 complement factors in patients with beta Thalassemia major in Khuzestan Province, Southwest Iran.
    J Immunoassay Immunochem 2017 Oct 16. Epub 2017 Oct 16.
    a Department of Immunology , Health Research Institute, Thalassemia & Hemoglobinopathy Research Center, School of Medicine, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
    Background And Objectives: Thalassemia syndrome is the most common genetic disorder in the world and infection is the second cause of death in these patients. Measurement of serum C3 and C4 complement factors in serum was done in 60 patients with beta-thalassemia major in comparison with 30 healthy subjects as control group.

    Materials And Methods: The serum level of C3 and C4 complement factors in 60 patients with beta-thalassemia major who were randomly selected from among the patients referred to Shafa Hospital of Ahvaz was evaluated and compared with 30 samples from healthy individuals with no history of recent infectious or autoimmune diseases. Read More

    Heart Rate Recovery as a Novel Test for Predicting Cardiac Involvement in Beta-Thalassemia Major.
    Acta Cardiol Sin 2017 Jul;33(4):410-419
    Department of Cardiology, Antalya Education and Research Hospital, Antalya.
    Background: Abnormal heart rate recovery (HRR) is predictive of cardiac mortality. Autonomic abnormalities in beta-thalassemia major (TM) patients have been reported in previous studies. However, the importance of low HRR in exercise stress test in TM patients has not yet been ascertained. Read More

    Second Hematopoietic SCT for Thalassemia Major: Improved Clinical Outcomes with a Treosulfan Based Conditioning Regimen.
    Biol Blood Marrow Transplant 2017 Oct 12. Epub 2017 Oct 12.
    Graft rejection (GR) following an allo-SCT occurs in 10-20% of patients with β thalassemia major (TM). There is limited data on the clinical profile and long term outcome of patients who have had a graft rejection. We undertook a retrospective analysis of patients who had a graft failure post allogeneic SCT for TM at our center. Read More

    Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey.
    Int J Womens Health 2017 25;9:673-679. Epub 2017 Sep 25.
    Thalassemia Patients' Friends Society, Ramallah, Palestine.
    Purpose: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. Read More

    Bone disease in β thalassemia patients: past, present and future perspectives.
    Metabolism 2017 Oct 4. Epub 2017 Oct 4.
    First Department of Paediatrics, University of Athens, Athens, Greece.
    Bone disorders in patients with thalassemia major (TM) and intermedia (TI) constitute complex conditions that result from various factors affecting the growing skeleton. Although much progress has been made in our understanding of the natural history, pathogenesis and clinical manifestations of β- and δβ-thalassemia, bone manifestations remain a puzzle for the clinician. In this review, we outline the key points in the current literature on the pathogenesis and management of bone disease in patients with TM and TI who were conventionally treated in recent decades with frequent blood transfusions and iron chelation. Read More

    [Molecular epidemiological survey of hemoglobinopathies in Yongzhou area of Hunan province].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Oct;34(5):662-665
    Yongzhou Women and Children Health Care Hospital, Yongzhou, Hunan 425000, China.
    Objective: To summarize the molecular epidemiology of hemoglobinopathies in Yongzhou area of Hunan province in order to provide a basis for making the guidelines of local thalassemia prevention program.

    Methods: Two thousand and two samples (1001 couples) were randomly recruited based on demographic data and distribution of ethnic groups. All samples were subjected to full blood count and analysis of hemoglobin and 6 common alpha-thalassemia mutations. Read More

    Role of serum cystatin-C and beta-2 microglobulin as early markers of renal dysfunction in children with beta thalassemia major.
    Int J Nephrol Renovasc Dis 2017 11;10:261-268. Epub 2017 Sep 11.
    Clinical Pathology Department, General Organization of Teaching Hospitals and Institutes, Egypt.
    Background: Although advancements have been made in the management of thalassemic patients, many unrecognized complications have emerged, such as renal abnormalities.

    Aim: To measure serum levels of cystatin-C and β-2 microglobulin in children with beta-thalassemia major (β-TM) and investigate their significance as early markers of glomerular and tubular dysfunctions.

    Subjects And Methods: The study was performed on 70 children with (β-TM) and 20 apparently healthy children matched for age and sex as a control group. Read More

    Progress in iron metabolism research.
    Rinsho Ketsueki 2017 ;58(10):1864-1871
    Department of Hematology and Immunology, Kanazawa Medical University.
    Iron is essential for various cellular processes, but an excess of iron may cause organ damage through the production of reactive oxygen species. Therefore, the amount of iron in the body must be strictly controlled. The central regulator of systemic iron homeostasis is hepcidin, which is primarily produced in the liver. Read More

    Compliance score as a monitoring tool to promote treatment adherence in children with thalassemia major for improved physical growth.
    Asian J Transfus Sci 2017 Jul-Dec;11(2):108-114
    Department of Pediatrics and Neonatology, Tata Main Hospital, Jamshedpur, Jharkhand, India.
    Background/hypothesis: Creeping monotony in the treatment provides minimal motivation for children with beta-thalassemia major, leading to noncompliance for adequate blood transfusions and iron chelation therapy. This study was envisaged to formulate a clinical compliance score and correlate the score with their linear growth velocity and weight gain.

    Materials And Methods: A prospective longitudinal study among 30 thalassemia children aged between 1 and 18 years was conducted in the Department of Pediatrics, Tata Main Hospital (TMH), Jamshedpur, from July 2012 to January 2014. Read More

    Age-related changes in biochemical bone profile in thalassemic children.
    Pediatr Neonatol 2017 Aug 26. Epub 2017 Aug 26.
    Pediatric Department, Faculty of Medicine, Sohag University, Sohag, Egypt.
    Background: Osteopathy is an important cause of morbidity in β-thalassemia major (TM). Although many of the etiopathological factors implicated in thalassemic osteoporosis commence in early disease phases during childhood, limited information exists on bone turnover in children with TM. This study was conducted with the objective to compare bone turnover markers (BTMs) in thalassemic children at different ages. Read More

    Inhaled nebulized sodium nitrite decreases pulmonary artery pressure in β-thalassemia patients with pulmonary hypertension.
    Nitric Oxide 2017 Sep 28. Epub 2017 Sep 28.
    Department of Pharmacology, Faculty of Science, Mahidol University, Bangkok, Thailand. Electronic address:
    Pulmonary hypertension is a life-threatening complication in β-thalassemia. Inhaled sodium nitrite has vasodilatory effect on pulmonary vasculature. However, its effect on pulmonary artery pressure (PAP) in β-thalassemia subjects with pulmonary hypertension has never been reported. Read More

    Diagnostic difficulty of beta-thalassemia syndrome in a multi-transfused patient: contribution of myelogram and studying parents.
    Ann Biol Clin (Paris) 2017 Oct;75(5):562-568
    Laboratoire de génétique moléculaire, Hôpital Robert Debré, AP-HP, Paris, France.
    We report the case of a 5 year old, initially followed for congenital sideroblastic anemia, whose explorations reveal a complex family hemoglobinopathy. Myelogram performed in children, reveals dystrophic mature erythroblasts with hemoglobinization defect and basophil punctuations. These abnormalities point towards an abnormal synthesis of heme or globin chains. Read More

    Chimerism in pediatric hematopoietic stem cell transplantation and its correlation with the clinical outcome.
    Transpl Immunol 2017 Sep 23. Epub 2017 Sep 23.
    Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address:
    Hematopoietic stem cell transplantation (HSCT) is the only hope to cure many inherited and acquired hematological disorders in children. Monitoring of chimerism helps to predict the post-transplantation events, with the intention to enhance the long-term disease free survival (DFS). The study aimed to investigate the importance of early chimerism detection to predict the clinical outcome following HSCT. Read More

    Evaluating the Role of Zinc in Beta Thalassemia Major: A Prospective Case-Control Study from a Tertiary Care Teaching Hospital in India.
    Cureus 2017 Jul 20;9(7):e1495. Epub 2017 Jul 20.
    Department of Microbiology, Prathima Institute of Medical Sciences.
    Background Thalassemia is a common hereditary anemia in humans, and beta thalassemia represents a group of recessively inherited hemoglobin disorders first described by Cooley and Lee and characterized by the abnormal synthesis of β-globin chain. The homozygous state results in severe anemia, which needs regular blood transfusion. Although such treatments increase the patient's life span, a variety of complications, including endocrine, metabolic, skeletal, and growth disorders are being observed due to increased iron storage in the body. Read More

    Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations.
    Intern Med 2017 Sep 25. Epub 2017 Sep 25.
    Department of Hematology and Hematology Research Laboratory, West China Hospital, Sichuan University, China.
    Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low production of the hormone hepcidin, which leads to an increase in intestinal absorption and excessive iron deposition in the parenchymal cells. To the best of our knowledge, there have been no reports on the coexistence of the two disorders in China. We herein report a case in a Chinese who presented with late-onset hepatic cirrhosis with hereditary hemochromatosis and β-thalassemia. Read More

    Correction of β-thalassemia mutant by base editor in human embryos.
    Protein Cell 2017 Sep 23. Epub 2017 Sep 23.
    Key Laboratory of Gene Engineering of the Ministry of Education, Guangzhou Key Laboratory of Healthy Aging Research and State Key Laboratory of Biocontrol, SYSU-BCM Joint Research Center, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510275, China.
    β-Thalassemia is a global health issue, caused by mutations in the HBB gene. Among these mutations, HBB -28 (A>G) mutations is one of the three most common mutations in China and Southeast Asia patients with β-thalassemia. Correcting this mutation in human embryos may prevent the disease being passed onto future generations and cure anemia. Read More

    Inducing indel mutation in the SOX6 Gene by Zinc Finger Nuclease for gamma reactivation: An Approach towards Gene Therapy of Beta Thalassemia.
    J Cell Biochem 2017 Sep 23. Epub 2017 Sep 23.
    Department of genetics and molecular biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    β-thalassemia is a common autosomal recessive disorder characterized by a deficiency in the synthesis of β-chains.Evidences show that increased HbF levels improve the symptoms in patients with β-thalassemia or sickle cell anemia. In this study, ZFN technology was applied to induce a mutation in the binding domain region of SOX6 to reactivate γ-globin expression. Read More

    Safety and Pharmacokinetics of the Oral Iron Chelator SP-420 in β-thalassemia.
    Am J Hematol 2017 Sep 22. Epub 2017 Sep 22.
    Department of Pediatrics & Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
    Our Phase I, open-label, multi-center, dose-escalation study evaluated the pharmacokinetics (PK) of SP-420, a tridentate oral iron chelating agent of the desferrithiocin class, in patients with transfusion dependent β-thalassemia. SP-420 was administered as a single dose of 1.5 (n=3), 3 (n=3), 6 (n=3), 12 (n=3), and 24 (n=6) mg/kg or as a twice-daily dose of 9 mg/kg (n=6) over 14-28 days. Read More

    Zinc Status in Beta Thalassemia Major Patients.
    Biol Trace Elem Res 2017 Sep 23. Epub 2017 Sep 23.
    Department of Pediatrics, Faculty of Medicine, University of Peradeniya, Peradeniya, Sri Lanka.
    Beta thalassemia is a common monogenic hereditary hemoglobinopathy which is associated with compound complications. Zinc deficiency, which is commonly observed in thalassemia patients, is also associated with multiple health complications. The objective of this study was to determine the zinc status and its effect on the growth and immune functions of young beta thalassemia major patients. Read More

    Cardioprotective potential of iron chelators and prochelators.
    Curr Med Chem 2017 Sep 20. Epub 2017 Sep 20.
    Department of Biochemical Sciences, Faculty of Pharmacy in Hradec Králové, Charles University in Prague. Czech Republic.
    Heart is a particularly sensitive organ to iron overload and cardiomyopathy due to the excessive cardiac iron deposition causes most deaths in disorders such as beta-thalassemia major. Free or loosely bound iron ions readily cycle between ferrous and ferric states and catalyze Haber-Weiss reaction that yields highly reactive and toxic hydroxyl radicals. Treatment with iron chelators (desferrioxamine, deferiprone, and deferasirox) substantially improved cardiovascular morbidity and mortality in iron overloaded patients. Read More

    Flow cytometric analysis of patients with hereditary spherocytosis - an Indian scenario.
    Hematology 2017 Sep 15:1-6. Epub 2017 Sep 15.
    b Department of Hematology , All India Institute of Medical Sciences (AIIMS) , New Delhi , India.
    Objectives: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening test for hereditary spherocytosis (HS). This study was conducted to evaluate the utility of FC-OFT in all newly diagnosed cases of HS, to compare its diagnostic value with conventional OFT and to correlate with clinical disease severity.

    Methods: In this study, the percentage of residual red cells (%RRC) was measured using flow cytometer after creating a red cell suspension. Read More

    Measurement of HbA1c and HbA2 by Capillarys 2 Flex Piercing HbA1c programme for simultaneous management of diabetes and screening for thalassemia.
    Biochem Med (Zagreb) 2017 Oct 28;27(3):030704. Epub 2017 Aug 28.
    Department of Laboratory Science, Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.
    Introduction: Thalassemia could interfere with some assays for haemoglobin A1c (HbA1c) measurement, therefore, it is useful to be able to screen for thalassemia while measuring HbA1c. We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia.

    Materials And Methods: Samples from 498 normal controls and 175 thalassemia patients were analysed by Capillarys 2FP HbA1c programme (Sebia, France). Read More

    Efficacy and Safety of Deferasirox in Pediatric Patients of Thalassemia at a Tertiary Care Teaching Hospital.
    Indian J Med Paediatr Oncol 2017 Apr-Jun;38(2):103-110
    Department of Paediatrics, Civil Hospital, Ahmedabad, Gujarat, India.
    Objective: To evaluate efficacy, safety and utilization pattern of deferasirox in paediatric patients of transfusion dependant β Thalassemia Major at a tertiary care teaching hospital in Gujarat.

    Materials And Methods: This observational, prospective-retrospective, single centre, continuous study was conducted in a tertiary care teaching hospital among paediatric patients of transfusion dependent β Thalassemia Major. Patients treated with deferasirox for not more than 12 weeks were enrolled. Read More

    Gene Therapy Approaches to Hemoglobinopathies.
    Hematol Oncol Clin North Am 2017 Oct;31(5):835-852
    Department of Life Sciences, University of Modena and Reggio Emilia, Via Campi 287, 41125 Modena, Italy. Electronic address:
    Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with a lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Preclinical and early clinical studies showed the safety and potential efficacy of this therapeutic approach as well as the hurdles still limiting its general application. In addition, for both beta-thalassemia and sickle cell disease, an altered bone marrow microenvironment reduces the efficiency of stem cell harvesting as well as engraftment. Read More

    Genotyping of single nucleotide polymorphism by probe-gated silica nanoparticles.
    Anal Biochem 2017 Sep 8;537:78-83. Epub 2017 Sep 8.
    Yeditepe University, School of Medicine, Department of Biophysics, Istanbul, Turkey. Electronic address:
    The development of simple, reliable, and rapid approaches for molecular detection of common mutations is important for prevention and early diagnosis of genetic diseases, including Thalessemia. Oligonucleotide-gated mesoporous nanoparticles-based analysis is a new platform for mutation detection that has the advantages of sensitivity, rapidity, accuracy, and convenience. A specific mutation in β-thalassemia, one of the most prevalent inherited diseases in several countries, was used as model disease in this study. Read More

    Evaluation of the Greek TranQol: a novel questionnaire for measuring quality of life in transfusion-dependent thalassemia patients.
    Ann Hematol 2017 Nov 7;96(11):1937-1944. Epub 2017 Sep 7.
    Adults Thalassemia Unit, 2nd Department of Internal Medicine, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 49, Konstantinoupoleos Street, 54642, Thessaloniki, Greece.
    The aim of our study was to evaluate the Greek version of the transfusion-dependent quality of life (TranQol) questionnaire and report our experience of using this novel disease-specific quality of life (QoL) measure in patients with transfusion-dependent thalassemia (TDT). The TranQol and SF-36v2 questionnaires were administered to 94 adult TDT patients with a mean age of 32.1 years (SD = 7, range = 19-58), recruited from the Adult Thalassemia Unit of Hippokration General Hospital of Thessaloniki, Greece. Read More

    MRI assessment of pituitary iron accumulation by using pituitary-R2 in β-thalassemia patients.
    Acta Radiol 2017 Jan 1:284185117730099. Epub 2017 Jan 1.
    2 Department of Radiology, 60521 Ege University Faculty of Medicine , Izmir, Turkey.
    Background Patients with thalassemia major (TM) require repeated blood transfusions, which leads to accumulation of iron in a wide variety of tissues. Accumulation of iron in the pituitary gland can lead to irreversible hypogonadotropic hypogonadism (HH) in this group of patients. Purpose To investigate the reliability of pituitary-R2 as a marker to estimate the extent of pituitary iron load by comparing the pituitary magnetic resonance imaging (MRI) findings with hepatic iron load and serum ferritin levels. Read More

    Benefits of Curcumin Supplementation on Antioxidant Status in β-Thalassemia Major Patients: A Double-Blind Randomized Controlled Clinical Trial.
    Ann Nutr Metab 2017 Sep 8;71(3-4):136-144. Epub 2017 Sep 8.
    National Nutrition and Food Technology Research Institute, Faculty of Nutrition Sciences and Food Technology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: β-Thalassemia major, the most common inherited anemia in the world, is associated with imbalance in the oxidant-antioxidant system. The objective of this study was to evaluate the efficacy of curcumin supplementation on markers of oxidative stress in patients with β-Thalassemia.

    Methods: This double-blind randomized controlled clinical trial was performed on 61 β-thalassemia major patients. Read More

    Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype.
    Mol Biol Rep 2017 Oct 6;44(5):413-417. Epub 2017 Sep 6.
    National Institute of Immunohematology (ICMR), 13th Floor, New Multi-storeyed Building, K.E.M. Hospital Campus, Parel, Mumbai, 400012, India.
    Co-inheritance of gamma and beta globin gene mutations in a compound heterozygous state is rare but of clinical interest as it provides an important data on understanding the HbF expression. Hematological analysis was carried out (Sysmex KX-21). F-cells were enumerated using flow cytometry. Read More

    Progression of liver fibrosis can be controlled by adequate chelation in transfusion-dependent thalassemia (TDT).
    Ann Hematol 2017 Nov 5;96(11):1931-1936. Epub 2017 Sep 5.
    Rare Disease Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
    A substantial proportion of patients with transfusion-dependent beta-thalassemia major suffer from chronic liver disease. Iron overload resulting from repeated transfusions and HCV infection has been implicated in the development of liver fibrosis. Hepatic siderosis and fibrosis were assessed in 99 transfusion-dependent thalassemia (TDT) patients using transient elastography (TE) and liver iron concentration (LIC) assessed by T2*MRI at baseline and after 4 years. Read More

    Xmn1-158 γGVariant in B-Thalassemia Intermediate Patients in South-East of Iran.
    Int J Hematol Oncol Stem Cell Res 2017 Apr;11(2):165-171
    Ph.D, Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
    Background: Xmn-1 polymorphism of 𝜸(G)globin gene (HBG2) is a prominent quantitative trait loci (QTL) in β-thalassemia intermediate (β-TI). In current study, we evaluated the frequency of Xmn-1 polymorphism and its association with β-globin gene (HBB) alleles and Hb F level in β-TI patients in Sistan and Balouchestan province, south-east of Iran. Subjects and Methods: 45 β-TI patients were enrolled. Read More

    Renal Hemosiderosis among Iranian Transfusion Dependent β-Thalassemia Major Patients.
    Int J Hematol Oncol Stem Cell Res 2017 Apr;11(2):133-138
    Basir Eye Health Center, Basir Health Clinic, Tehran, Iran.
    Background: In recent years, the success in management of thalassemic patients, has allowed for some previously unrecognized complications including renal abnormalities to emerge. This prospective study aimed to investigate kidney iron overload by means of MRI T2* and also renal function based on laboratory tests for early markers of glomerular and tubular dysfunction among adult Iranian transfusion-dependent thalassemia major patients. Subjects and Methods: Two-hundred and two patients with transfusion-dependent β-thalassemia major were included in this study in Zafar Adult Thalassemia Center, Tehran, Iran. Read More

    Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia.
    Nat Commun 2017 Sep 4;8(1):424. Epub 2017 Sep 4.
    Medical Research Council (MRC) Molecular Hematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.
    β-Thalassemia is one of the most common inherited anemias, with no effective cure for most patients. The pathophysiology reflects an imbalance between α- and β-globin chains with an excess of free α-globin chains causing ineffective erythropoiesis and hemolysis. When α-thalassemia is co-inherited with β-thalassemia, excess free α-globin chains are reduced significantly ameliorating the clinical severity. Read More

    Beta-thalassemia in the paediatric cardiac surgery setting - a case report and literature review.
    Perfusion 2017 Sep 1:267659117729889. Epub 2017 Sep 1.
    Perfusion Department, Great Ormond Street Hospital for Children, London, UK.
    Beta (β)-thalassemia is a blood disorder with an incidence of 1 in 100,000.(1) This case report outlines a patient with β-thalassemia requiring cardiopulmonary bypass (CPB) and the measures taken to ensure an uneventful procedure. Read More

    Torque Teno Virus (TTV) Among β-Thalassemia and Haemodialysis Patients in Mazandaran Province (North of Iran).
    Int J Mol Cell Med 2017 28;6(1):56-60. Epub 2017 Feb 28.
    Department of Bacteriology and Virology, Shiraz Medical School, Shiraz University of Medical Sciences, Shiraz, Iran.
    Torque Teno virus (TTV) is a transfusion transmitted virus that seems to be involved in several complications such as acute respiratory diseases, liver diseases, AIDS, cancer, and autoimmune reactions. In the present study the frequency of TTV was investigated among β- thalassemia (BT) and haemodialysis (HD) patients (high risk patients for TTV) in Mazandaran province, Iran. DNA was extracted from the serum of 82 BT and 100 HD patients, and nested PCR method was applied to detect TTV DNA. Read More

    Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development.
    Iran J Basic Med Sci 2017 Jun;20(6):700-707
    Department of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
    Objectives: The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by aberrant splicing. Selection of the appropriate target site is essential in the success of an AO therapy. In this study, in search for a splice model system to facilitate the evaluation of AOs to redirect defective splicing of IVSI-110 β-globin intron, an EGFP-based IVSI-110 specific cellular reporter assay system has been developed and a number of AOs were tested in this cellular splicing assay. Read More

    Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
    EBioMedicine 2017 Sep 17;23:150-159. Epub 2017 Aug 17.
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China. Electronic address:
    Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. Read More

    The Bone Pain Crisis of Sickle Cell Disease and Malaria: Observations from Gujarat, India.
    Indian J Community Med 2017 Jul-Sep;42(3):167-169
    Sickle Cell Trust, Kingston, Jamaica, West Indies.
    Background: Sickle cell disease is a common problem across central India, but its clinical features may differ from that in African populations. There is a need to define the features of sickle cell disease in India, and the current study addresses some features of the bone pain crisis.

    Objectives: The objective of the study was to describe the epidemiology of the bone pain crisis of sickle cell disease in Gujarat and explore the relationship with infection by Plasmodium vivax. Read More

    An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production.
    BMC Med Genet 2017 Aug 29;18(1):93. Epub 2017 Aug 29.
    Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
    Background: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).

    Methods: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β(0)39/β(0)39, 33 β(0)39/β(+)IVSI-110, 9 β(+)IVSI-110/β(+)IVSI-110, one β(0)IVSI-1/β(+)IVSI-6 and one β(0)39/β(+)IVSI-6. Read More

    Long-term survival of beta thalassemia major patients treated with hematopoietic stem cell transplantation compared with survival with conventional treatment.
    Am J Hematol 2017 Aug 29. Epub 2017 Aug 29.
    Bone Marrow Transplant Center, Hospital Binaghi and Microcitemico, Cagliari, Italy.
    Allogeneic hematopoietic stem cell transplantation (HSCT) in thalassemia remains a challenge. We reported a single-centre case-control study of a large cohort of 516 children and adult patients treated with HSCT or blood transfusion support and iron chelation therapy; 258 patients (median age 12, range 1-45) underwent sibling (67%) or unrelated (33%) HSCT; 97 patients were adults (age ≥ 16 years). The median follow-up after HSCT was 11 years (range 1-30). Read More

    In Vitro Hb Production in B-thalassemia Patients Is Not a Predictor of Clinical Responsiveness to Hydroxyurea.
    Iran J Public Health 2017 Jul;46(7):948-956
    Dept. of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
    Background: The hematologic response to hydroxyurea (HU) is varied among β-thalassemia (BT) patients. The BCL11A and SOX6 genes are involved in response to HU. This study aimed to investigate the in-vitro responsiveness of HU among BT major patients homozygote for IVSII-1G>A mutation and XmnI single nucleotide polymorphism (SNP) in order to find whether the in-vitro Hb concentration is a predictor of clinical (HU) responsiveness. Read More

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