26,813 results match your criteria Thalassemia Imaging


Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia.

PLoS One 2018 6;13(12):e0208316. Epub 2018 Dec 6.

Universidade Federal de São Carlos (UFSCar), Departamento de Genética e Evolução, São Carlos, Brazil.

β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by an absent or reduced beta globin chain synthesis. The unbalance of alpha-gamma chain and the presence of pathological free iron promote severe oxidative damage, playing crucial a role in erythrocyte hemolysis, exacerbating ineffective erythropoiesis and decreasing the lifespan of red blood cells (RBC). Catalase, glutathione peroxidase and peroxiredoxins act together to protect RBCs from hydrogen peroxide insult. Read More

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December 2018

Comment on: Factors affecting quality of life in children and adolescents with thalassemia in Iraqi Kurdistan.

Saudi Med J 2018 Dec;39(12):1263-1264

Department of Pediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq. E-mail.

[No Abstract Available]. Read More

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December 2018

New variants in beta globin gene among the Palestinian refugees with sickle cell disease in Lebanon.

Saudi Med J 2018 Dec;39(12):1253-1258

Department of Biological Sciences, Beirut Arab University, Beirut, Lebanon. E-mail.

Objectives: To examine the association between beta-globin sequence variations and phenotypes of sickle-cell disease (SCD) complications among Palestinian refugees in Lebanon correlating them with chromatographic readings and co-inheritance with β-thalassemia traits.   Methods: This cross-sectional study included 47 Palestinian refugees aged 4 to 54 living in different regions in Lebanon during the year 2015. Participant filled a well-designed questionnaire. Read More

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December 2018
1 Read

Diagnostic Value of HLA Typing in Pathogenesis of Cardiomyopathy.

Cardiovasc Hematol Disord Drug Targets 2018 Dec 5. Epub 2018 Dec 5.

Thalassemia and Hemoglobinopathy Research Center, Research Institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz. Iran.

Development of cardiomyopathy (CM) is dependent upon several factors. However, reaction of immune response against myocardial tissue due to microbial and viral infections plays an important role in this disease. Therefore, the purpose of this study is to investigate the relationship between HLAs and their pathogenic mechanisms in the incidence of CM. Read More

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December 2018

One single bone marrow harvesting from donors under 3 years of age: assessing safety and efficacy of the procedure.

Bone Marrow Transplant 2018 Dec 5. Epub 2018 Dec 5.

International Centre for Transplantation in Thalassaemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Rome, Italy.

To candidate children as bone marrow donors raises two main concerns: donor safety and adequate marrow cell dose. Data in the field are limited and guidelines for child donor care management are lacking. In this context, we herein report the experience collected in our center by comparing very-young donors (defined as age ≤ 3 years) with young donors (defined as age > 3 years) who donated bone marrow (BM) for patients affected by beta-globin disorders. Read More

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December 2018

Iron chelating properties of Eltrombopag: Investigating its role in thalassemia-induced osteoporosis.

PLoS One 2018 3;13(12):e0208102. Epub 2018 Dec 3.

Department of Woman, Child and General and Special Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy.

Chronic blood transfusions are responsible to cause iron overload, which leads to several complications to end organs and osteoporosis. Iron chelation is needed to remove iron excess and to contain bone-mass loss. Deferasirox is the most recent oral iron chelator that prevents transfusion related iron overload complications. Read More

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December 2018

Severe hypertension is an independent risk factor for posterior reversible encephalopathy syndrome post-hematopoietic cell transplantation in children with thalassemia major.

Clin Transplant 2018 Dec 2:e13459. Epub 2018 Dec 2.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Medical Research Center (Pediatrics), Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China.

Background: Posterior reversible encephalopathy syndrome (PRES) is an increasingly recognized serious complication of Cyclosporine A (CSA) and tacrolimus (TAC) use in hematopoietic cell transplantation (HCT) recipients.

Procedure: A retrospective study was carried out, including 84 cases of HCT for TM from January 2012 to January 2017. 11 cases were diagnosed with PRES. Read More

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December 2018
1 Read

Endothelial Cells: From Dysfunction Mechanism to Pharmacological Effect in Cardiovascular Disease.

Cardiovasc Toxicol 2018 Dec 1. Epub 2018 Dec 1.

Thalassemia and Hemoglobinopathy Research Center, Research Institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Endothelial cells (ECs) are the innermost layer of blood vessels that play important roles in homeostasis and vascular function. However, recent evidence suggests that the onset of inflammation and the production of reactive oxygen species impair the function of ECs and are a main factor in the development of cardiovascular disease (CVD). In this study, we investigated the effects of inflammatory markers, oxidative stress, and treatment on ECs in CVD patients. Read More

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December 2018
3 Reads

Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.

Ann Hematol 2018 Nov 30. Epub 2018 Nov 30.

Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Beirut, 11072020, Lebanon.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on β-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation. Read More

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November 2018

Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.

Methods Mol Biol 2019 ;1885:207-219

Department of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.

The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide. The clinical severity of β-thalassemia major and the sickle cell syndromes targets them as priority genetic diseases for prevention programs, which incorporates population screening to identify heterozygotes, with the option of prenatal diagnosis for carrier couples. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis. Read More

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January 2019

Effectiveness and Safety of Deferasirox in Thalassemia with Iron Overload: A Meta-Analysis.

Acta Haematol 2018 Nov 30;141(1):32-42. Epub 2018 Nov 30.

Deferasirox (DFX) has recently been used to treat thalassemia with iron overload; however, its long-term effectiveness and safety await multi-year studies. In this study, a systematic meta-analysis was performed to assess the effectiveness and safety of DFX in the treatment of thalassemia with iron overload. We performed a systematic electronic literature search for randomized controlled studies of DFX in the Embase, Medline, Cochrane, and Chinese Biomedical Literature (CBM) databases from January 1990 to May 2018. Read More

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November 2018

Molecular profile of tumors with oligodendroglial morphology: Clinical relevance.

Neurol India 2018 Nov-Dec;66(6):1726-1731

Department of Radiotherapy, Christian Medical College, Vellore, Tamil Nadu, India.

Background: The plethora of biomarkers available for the diagnosis and prognostication of gliomas has refined the classification of gliomas. The new World Health Organization (WHO) 2016 classification integrates the phenotypic and genotyping features for a more robust diagnosis.

Materials And Methods: Fifty gliomas with oligodendroglial morphology according to the WHO 2007 classification were analyzed for isocitrate dehydrogenase 1 and 2 (IDH1/2) mutations by polymerase chain reaction, 1p/19q status by fluorescent in situ hybridization (FISH), and IDH1 and X-linked alpha-thalassemia retardation (ATRX) expression by immunohistochemistry. Read More

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December 2018

Beyond transfusion therapy: new therapies in thalassemia including drugs, alternate donor transplant, and gene therapy.

Authors:
John Porter

Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):361-370

University College London, London, United Kingdom.

Transfusion combined with chelation therapy for severe β thalassemia syndromes (transfusion-dependent thalassemia [TDT]) has been successful in extending life expectancy, decreasing comorbidities and improving quality of life. However, this puts lifelong demands not only on the patients but also on the health care systems that are tasked with delivering long-term treatment and comprehensive support. Prevention programs and curative approaches are therefore an important part of overall strategy. Read More

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November 2018

Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia.

Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):353-360

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

The α-thalassemia trait, associated with deletions removing both α-globin genes from 1 chromosome (genotype ζ αα/ζ--), is common throughout Southeast Asia. Consequently, many pregnancies in couples of Southeast Asian origin carry a 1 in 4 risk of producing a fetus inheriting no functional α-globin genes (ζ--/ζ--), leading to hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS). Expression of the embryonic α-globin genes (ζ-globin) is normally limited to the early stages of primitive erythropoiesis, and so when the ζ-globin genes are silenced, at ∼6 weeks of gestation, there should be no α-like globin chains to pair with the fetal γ-globin chains of Hb, which consequently form nonfunctional tetramers (γ) known as Hb Bart's. Read More

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November 2018

Reference intervals for HbA and HbF and cut-off value of HbA for β-thalassemia carrier screening in a Guizhou population of reproductive age.

Clin Biochem 2018 Nov 29. Epub 2018 Nov 29.

Department of Laboratory, Guizhou Provincial People's Hospital, No.83 East Zhongshan Road, Guiyang 550002, Guizhou, PR China; Medical college, Guizhou University, South Jiaxiu Road, Guiyang 550025, Guizhou, PR China. Electronic address:

Objective: The aims of this study were to establish the reference intervals for HbA2 and HbF in a Guizhou population of reproductive age, and to determine the cut-off value of HbA for β-thalassemia carrier screening.

Methods: Hemoglobin analysis was performed on 832 individuals without hypochromic microcytic anemia to calculate the reference intervals for HbA and HbF. Three hundred and ninety one β-thalassemia carriers and non β-thalassemia individuals were analyzed for their HbA levels followed by detecting β-globin gene mutations, then cut-off value of HbA for β-thalassemia carrier screening was determined using ROC curve analysis. Read More

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November 2018
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Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.

Hemoglobin 2018 Dec 3:1-6. Epub 2018 Dec 3.

c Thalassaemia National Centre of Greece , Laiko General Hospital of Athens , Athens , Greece.

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Read More

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December 2018

Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months.

J Nutr 2018 Dec;148(12):1903-1910

Department of Nutrition, University of California, Davis, Davis, CA.

Background: The relation between subclinical hemoglobinopathies and concentrations of the iron-regulatory hormone hepcidin is not well characterized.

Objective: We investigated the relation of hepcidin concentration with hemoglobinopathies among young children in Kenya.

Methods: We quantified serum hepcidin and ferritin in 435 Kenyan children aged 14-20 mo in a subsample of the Water, Sanitation, and Handwashing (WASH) Benefits Trial. Read More

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December 2018

Is It Safe for Trainees to Perform Single-Incision Pediatric Endosurgery Splenectomy?

J Laparoendosc Adv Surg Tech A 2018 Dec 5. Epub 2018 Dec 5.

3 Department of Anaesthesia, King Fahd Armed Forces Hospital , Jeddah, Saudi Arabia .

Introduction: Few centers worldwide have advanced single-incision pediatric endosurgery (SIPES) splenectomy. The safety and feasibility of SIPES performed by trainees were not assessed before. SIPES splenectomy is a demanding technique that needs high level of skills. Read More

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December 2018

A review of blood usage and wastage in a tertiary heart center.

Acta Clin Belg 2018 Dec 4:1-8. Epub 2018 Dec 4.

b Department of Medical Laboratory Sciences, School of Allied Medical sciences , Mazandaran University of Medical Sciences , Sari , Iran.

Background/objectives: Blood is a vital resource that its utilization is ever increasing throughout the world and blood wastage is a global challenge that needs to be controlled. Most blood resources are used during complications of pregnancy, trauma, severe childhood anemia, gynecology, cancers, surgery, hematology disorders, and chronic diseases. Units that are expired, broken bags, returning the blood unit after 30 min, blood clotted units, etc. Read More

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December 2018
1 Read

[Non-invasive prenatal diagnosis for beta-thalassemia by detecting paternal CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):787-790

Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong 510515, China.

Objective: To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR).

Methods: Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. Read More

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December 2018

The Loss of ATRX Increases Susceptibility to Pancreatic Injury and Oncogenic KRAS in Female But Not Male Mice.

Cell Mol Gastroenterol Hepatol 2019 14;7(1):93-113. Epub 2018 Sep 14.

Department of Paediatrics, London, Ontario, Canada; Department of Physiology and Pharmacology, London, Ontario, Canada; Department of Oncology, London, Ontario, Canada; Children's Health Research Institute, London, Ontario, Canada. Electronic address:

Background: Pancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer death in North America, accounting for >30,000 deaths annually. Although somatic activating mutations in appear in 97% of PDAC patients, additional factors are required to initiate PDAC. Because mutations in genes encoding chromatin remodelling proteins have been implicated in KRAS-mediated PDAC, we investigated whether loss of chromatin remodeler ɑ-thalassemia, mental-retardation, X-linked (ATRX) affects oncogenic KRAS's ability to promote PDAC. Read More

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September 2018
3 Reads

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.

World J Clin Cases 2018 Nov;6(14):786-790

Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories, Istanbul 34752, Turkey.

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Read More

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November 2018

Circ-SFMBT2 promotes the proliferation of gastric cancer cells through sponging miR-182-5p to enhance CREB1 expression.

Cancer Manag Res 2018 16;10:5725-5734. Epub 2018 Nov 16.

Department of Oncology Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, China,

Background: Circular RNAs(circRNAs) have been reported as a diverse class of endogenous RNA that regulate gene expression in eukaryotes. Recent evidence suggested that many circular RNAs can act as oncogenes or tumor suppressors through sponging microRNAs. However, the function of circular RNAs in gastric cancer remains largely unknown. Read More

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November 2018
1 Read

Hematology Education Across the Medical Spectrum: Interactive Thalassemia Education Module for Graduate Millennial Learners.

Am J Hematol 2018 Nov 29. Epub 2018 Nov 29.

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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November 2018
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HBG2 -158 (C>T) polymorphism and its contribution to fetal hemoglobin variability in Iraqi Kurds with beta-thalassemia minor.

J Lab Physicians 2018 Oct-Dec;10(4):370-373

Department of Pathology and Scientific Research Center, College of Medicine, University of Duhok, Duhok, Iraq.

Purpose: Hemoglobin (Hb) F% is increased in up to half of beta-thalassemia (β-thal) carriers. Several polymorphisms have been linked to such variability in different populations, including - 158(C>T) ( polymorphism) on chromosome 11. To determine the role of this polymorphism in such variability among Iraqi Kurds, the current study was initiated. Read More

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December 2018

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Int J Lab Hematol 2018 Nov 29. Epub 2018 Nov 29.

National Institute of Immunohaematology, Mumbai, India.

Introduction: The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Read More

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November 2018

Long-term improvement in cardiac magnetic resonance in β-thalassemia major patients treated with deferasirox extends to patients with abnormal baseline cardiac function.

Am J Hematol 2018 Nov 29. Epub 2018 Nov 29.

Department of Women, Child and General and Specialized Surgery, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.

The management of iron overload in thalassemia has changed dramatically since the implementation of magnetic resonance imaging, which allows detection of preclinical iron overload and prevention of clinical complications. This study evaluates the effect of deferasirox, the newest once-daily oral chelator, on cardiac function, iron overload and cardiovascular events over a longer follow up in a "real world" setting Longitudinal changes in cardiac magnetic resonance T2*, cardiac function parameters and cardiovascular clinical events were assessed in a cohort of 98 TM patients exposed to deferasirox for a mean of 6.9 years (range 1. Read More

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November 2018

The burden of psychiatric illnesses in adult patients with beta-thalassemia: a 5-year nationwide inpatient evaluation in the United States.

Ann Hematol 2018 Nov 28. Epub 2018 Nov 28.

Behavioral Health, Dekalb Medical Center, 2701 N Decatur Rd, Decatur, GA, 30033, USA.

Beta-thalassemia (ß-thalassemia) is a frequently inherited monogenic disorder worldwide with severe physical and mental health comorbidities. The aim of this study is to evaluate the burden of psychiatric disorders in adult patients hospitalized with ß-thalassemia in the United States (US). We utilized the discharge data from the National Inpatient Sample (NIS) from 2010 through 2014 to identify hospitalized ß-thalassemia patients who are 18 years and older. Read More

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November 2018

Relationship Between Social Determinants of Health and the Thalassemia Prenatal Diagnosis Test in Zahedan, South Eastern Iran.

Hemoglobin 2018 Nov 29:1-5. Epub 2018 Nov 29.

e School of Medicine , Zahedan University of Medical Sciences , Zahedan , Iran.

Little is known about the social determinants of health (SDH) of taking the prenatal diagnosis (PND) test as a pivotal strategy to prevent occurrences of β-thalasssemia major (β-TM). This study sought to evaluate the relationship between socio-demographic characteristics of parents and taking the PND test at Zahedan, Iran from 2015 to 2016. The design of the present study was a case-control. Read More

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November 2018

Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia.

Hemoglobin 2018 Nov 29:1-7. Epub 2018 Nov 29.

e Department of Haematogenetics , National Institute of Immuno-Haematology , Parel, Mumbai , India.

Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe. Hb S (HBB: c.20A>T)-β-thalassemia (β-thal) is a compound aberrant heterozygosity with inconsistent phenotypic expression, which are poorly described and clinically mapped. Read More

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November 2018
3 Reads

A Rare Hb H Hydrops Fetalis Syndrome Caused by the - - Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient.

Hemoglobin 2018 Nov 29:1-3. Epub 2018 Nov 29.

b Department of Gynecology and Obstetrics, Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Nanfang Hospital , Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - - (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p. Read More

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November 2018

[Clinical analysis of autoimmune hemolytic anemia after allogeneic hematopoietic stem cell transplantation in thalassemia major].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):908-911

Department of Hematology, The First Affiliated Hospital of Guangxi Medial University, Nanning 530021, China.

To explore the diagnosis, treatment and prognosis of autoimmune hemolytic anemia (AIHA) after allo-HSCT in patients with thalassemia major (TM). A retrospective analysis of AIHA status after allo-HSCT in 291 TM patients from July 2007 to December 2017 was conducted. Five of the 291 TM patients (1. Read More

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November 2018
1 Read

[How I treat thalassemia].

Authors:
Y R Lai

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):892-894

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.

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November 2018

Oxidative Stress in β-Thalassemia.

Mol Diagn Ther 2018 Nov 27. Epub 2018 Nov 27.

Department of Hematology, Hadassah-Hebrew University Medical Center, Ein-Kerem, POB 12,000, 91120, Jerusalem, Israel.

Cell oxidative status, which represents the balance between oxidants and antioxidants, is involved in normal functions. Under pathological conditions, there is a shift toward the oxidants, leading to oxidative stress, which is cytotoxic, causing oxidation of cellular components that result in cell death and organ damage. Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes that cause reduced or complete absence of specific globin chains (commonly, α or β). Read More

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November 2018
5 Reads

Successful Treatment of Hepatitis C Virus by Ledipasvir/Sofosbuvir in a Cirrhotic Patient with Sickle Cell Disease and Thalassemia Minor.

Case Rep Gastroenterol 2018 Sep-Dec;12(3):629-632. Epub 2018 Oct 23.

Department of Gastroenterology, Staten Island University Hospital, Staten Island, New York, USA.

Around 8% of patients diagnosed with sickle cell disease (SCD) are hepatitis C virus (HCV) carriers. Previously, HCV treatment was seldom considered in SCD patients, as the ribavirin-induced hemolysis and interferon-induced cytopenias could lead to more profound anemia. Nowadays, several oral direct-acting antiviral drugs have been developed and approved by the FDA for hepatitis C treatment. Read More

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October 2018

Prevalence and clinical significances of red cell alloimmunization and red cell bound immunoglobulin G in polytransfused patients with thalassemias.

Hematology 2019 Dec;24(1):208-214

a Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital , Mahidol University , Bangkok , Thailand.

The study was to determine the prevalence and clinical significances of red blood cell (RBC)-bound IgG as detected by flow cytometry in polytransfused patients with thalassemias. Relationship of the presence of RBC-bound IgG with RBC alloimmunization was also evaluated. This study included 59 polytransfused patients with β-thalassemia disease. Read More

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December 2019
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Echocardiographic evaluation of prevalence of pulmonary hypertension in β-thalassemia major: A cross sectional study.

Pediatr Hematol Oncol 2018 Nov 23:1-9. Epub 2018 Nov 23.

c Oncology Research Center , Tabriz University of Medical Sciences , Tabriz , Iran.

Introduction: Pulmonary hypertension is a common complication associated with thalassemia syndromes and it may play an important role in the pathogenesis of right ventricle failure. The true prevalence of pulmonary hypertension in patients with thalassemia major remains unclear and has been reported to be between 2 and 79%.

Materials And Methods: In total, 70 patients with thalassemia major were initially examined. Read More

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November 2018
2 Reads

The population dynamics of haemoglobins A, A, F and S in the context of the haemoglobinopathies HbS and α+thalassaemia in Kenyan infants.

Haematologica 2018 Nov 22. Epub 2018 Nov 22.

KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya

Few studies have described the dynamics of haemoglobin production in African populations with a high prevalence of haemoglobinopathies. We have used the BioRad Variant ClassicTM HPLC method to document the production patterns of the common haemoglobin variants HbA, HbA2, HbF and HbS, stratified by a+thalassaemia genotype, among 15,301 infants recruited to a study on the Coast of Kenya. Notably, we confirm that HbA2 measurements determined using this instrument are unreliable in HbAS and HbSS subjects. Read More

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November 2018

BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression.

Genes Dev 2018 12 21;32(23-24):1537-1549. Epub 2018 Nov 21.

Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.

Human globin gene production transcriptionally "switches" from fetal to adult synthesis shortly after birth and is controlled by macromolecular complexes that enhance or suppress transcription by elements scattered throughout the locus. The DRED (direct repeat erythroid-definitive) repressor is recruited to the ε-globin and γ-globin promoters by the orphan nuclear receptors TR2 (NR2C1) and TR4 (NR2C2) to engender their silencing in adult erythroid cells. Here we found that nuclear receptor corepressor-1 (NCoR1) is a critical component of DRED that acts as a scaffold to unite the DNA-binding and epigenetic enzyme components (e. Read More

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December 2018
2 Reads

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency.

Qual Life Res 2018 Nov 19. Epub 2018 Nov 19.

Haematology Unit, Grande Ospedale Metropolitano Bianchi Melacrino Morelli, Reggio Calabria, Italy.

Purpose: Pyruvate kinase deficiency (PKD) is a rare disease and understanding of its epidemiology and associated burden remains limited. With no current curative therapy, clinical manifestations can be life threatening, clinically managed by maintaining adequate hemoglobin levels through transfusion and subsequent support, but with frequent complications. Treatment goals are to maintain/improve the patient's quality of life. Read More

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November 2018
1 Read

Unexpected discovery of hemoglobinopathy C/β° thalassemia.

Clin Case Rep 2018 Nov 21;6(11):2117-2120. Epub 2018 Sep 21.

Department of Clinical Biochemistry and Toxicology Mohammed V Military Teaching Hospital Faculty of Medicine and Pharmacy Mohammed V University Rabat Morocco.

High performance liquid chromatography (HPLC) is the current method of choice for the detection of hemoglobinopathies and the quantification of A2 and fetal hemoglobin. We are describing a case where a double heterozygosity C/beta-thalassemia was fortuitously identified, during assaying HBA1c, by HPLC. Read More

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November 2018
2 Reads

Correlation between 25-Hydroxyvitamin D and Lipid Profile among Children with Beta Thalassemia Major.

Open Access Maced J Med Sci 2018 Oct 5;6(10):1790-1794. Epub 2018 Oct 5.

Department of Child Health, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia.

Background: Beta thalassemia major is associated with lipid profile abnormalities, presented as a lower level of total cholesterol (TC), low-density lipoproteins (LDL), high-density lipoprotein (HDL), and higher triglyceride level; increasing risk for cardiovascular complications. The previous studies indicated that Vitamin D give a positive impact on the lipid profile in healthy children population. However, its role needs to be determined in a high-risk group of children with beta-thalassemia major. Read More

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October 2018
2 Reads

Effects of deferasirox dose and decreasing serum ferritin concentrations on kidney function in paediatric patients: an analysis of clinical laboratory data from pooled clinical studies.

Lancet Child Adolesc Health 2018 Nov 16. Epub 2018 Nov 16.

Division of Epidemiology, Food and Drug Administration, Silver Spring, MD, USA.

Background: Serious and fatal deferasirox-induced kidney injury has been reported in paediatric patients. This study aimed to investigate the effects of deferasirox dose and serum ferritin concentrations on kidney function and the effect of impaired kidney function on dose-normalised deferasirox minimum plasma concentration (C).

Methods: We did a case-control analysis using pooled data from ten clinical studies. Read More

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November 2018

Patient-reported outcomes from a randomized phase II study of the deferasirox film-coated tablet in patients with transfusion-dependent anemias.

Health Qual Life Outcomes 2018 Nov 19;16(1):216. Epub 2018 Nov 19.

University College London, London, UK.

Background: Adherence to long-term chelation therapy in transfusion-dependent patients is critical to prevent iron overload-related complications. Once-daily deferasirox dispersible tablets (DT) have proven long-term efficacy and safety in patients ≥2 years old with chronic transfusional iron overload. However, barriers to optimal adherence remain, including palatability, preparation time, and requirements for fasting state. Read More

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November 2018
1 Read

Noninvasive assessment and risk factors of liver fibrosis in patients with thalassemia major using shear wave elastography.

Hematology 2019 Dec 19;24(1):183-188. Epub 2018 Nov 19.

e Department of Radiology and Molecular Imaging , Sultan Qaboos University Hospital Sultan Qaboos University , Muscat , Oman.

Objectives: This study aimed to estimate the prevalence of liver fibrosis and assess the risk factors for developing significant liver fibrosis in patients with Thalassemia Major (TM).

Methods: All patients with TM over the age of 10 years were included in the study.

Results: A total of 94 eligible patients underwent 2-D SWE. Read More

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December 2019
1 Read

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.

Hemoglobin 2018 Nov 19:1-5. Epub 2018 Nov 19.

a Genetics Research Center, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.

Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from misalignment of a homologous sequence of an α-globin gene during meiosis can produce a numerical alteration. A single α-globin gene deletion is the most frequent mutation in α-thalassemia (α-thal) worldwide, while the additional α-globin chain is relatively common. Read More

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November 2018
3 Reads

Ventricular global longitudinal strain is altered in children with sickle cell disease.

Br J Haematol 2018 Dec 19;183(5):796-806. Epub 2018 Nov 19.

Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Cardiac disease is the primary cause of death in sickle cell disease (SCD). Right and left ventricular global longitudinal strain (RVGLS, LVGLS) are early markers of systolic dysfunction but are not well investigated among children with SCD. One hundred and forty-three patients with HbSS or HbSβ -thalassaemia (median age 11 years, range 5-19 years) and 71 controls matched for age and sex were compared. Read More

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December 2018
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