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(Beta Thalassemia) OR (Thalassemia Major)

Yijia Zhang, Xiaoqian Gong, Yi He, Lichan Huang, Qiang Zhang, Yanhui Liu, Jiufeng Li, Yajun Chen, Wanjun Zhou
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. The accuracy, sensitivity and detective linearity range of the developed method were evaluated by detection of the target gene gradient concentration samples...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Neslihan Yildirim Saral, Fehime Benli Aksungar, Cigdem Aktuglu-Zeybek, Julide Coskun, Ozlem Demirelce, Mustafa Serteser
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. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis...
November 26, 2018: World Journal of Clinical Cases
Handong Sun, Pengcheng Xi, Zhiqiang Sun, Qian Wang, Bin Zhu, Jian Zhou, Hui Jin, Wubin Zheng, Weiwei Tang, Hongyong Cao, Xiufeng Cao
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. Materials and methods: The circRNA levels in gastric carcinoma tissues and plasmas were detected by real-time quantitative reverse transcription-polymerase chain reaction...
2018: Cancer Management and Research
Xin-Yu Li, Ke Huang, Dun-Hua Zhou, Yang Li, Hong-Gui Xu, Wen-Jun Weng, Lu-Hong Xu, Jian-Pei Fang
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. RESULTS: The cumulative incidence of PRES was 13.4% (95%CI 9.7-17.2%)...
December 2, 2018: Clinical Transplantation
Valentina Brancaleoni, Hassan M Moukhadder, Dario Consonni, Suzanne Koussa, Elena Di Pierro, Maria Domenica Cappellini, Ali Taher
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...
November 30, 2018: Annals of Hematology
Joanne Traeger-Synodinos, Christina Vrettou, Emmanuel Kanavakis
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. The application of real-time PCR provides a means for rapid and potentially high throughput assays, without compromising accuracy...
2019: Methods in Molecular Biology
Dilan J Albarawi, Amer A Balatay, Nasir Al-Allawi
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 HBG2 - 158(C>T) ( Xmn I polymorphism) on chromosome 11. To determine the role of this polymorphism in such variability among Iraqi Kurds, the current study was initiated. MATERIALS AND METHODS: A total of 102 consecutive patients diagnosed as β-thal minor were enrolled. The enrollees had their diagnosis based on peripheral blood counts and high-performance liquid chromatography to determine HbA2 and HbF...
October 2018: Journal of Laboratory Physicians
Anita H Nadkarni, Ajit C Gorakshakar, Pratibha M Sawant, Khushnooma Y Italia, Dipti S Upadhye, Manju S Gorivale, Pallavi R Mehta, Priya Hariharan, Kanjaksha Ghosh, Roshan B Colah
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. MATERIALS AND METHODS: Screening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis...
November 29, 2018: International Journal of Laboratory Hematology
Maddalena Casale, Aldo Filosa, Alfonso Ragozzino, Giovanni Amendola, Domenico Roberti, Immacolata Tartaglione, Elisa De Michele, Domenico Cozzolino, Giuliana Rispoli, Francesco Palmieri, Umberto Pugliese, Saverio Scianguetta, Giuseppe Signoriello, Khaled M Musallam, Silverio Perrotta
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...
November 29, 2018: American Journal of Hematology
Krupa Patel, Siddhi Bhivandkar, Rupak Desai, Todd Antin
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. We assessed categorical and continuous variables using chi-square test and Student's t test respectively...
November 28, 2018: Annals of Hematology
Narjes Sargolzaie, Mostafa Montazer Zohour, Erfan Ayubi, Fahimeh Shahraki
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. Data on socio-demographic characteristics of parents including age, education, job, ethnicity, and family relationships, kind of marriage as well as pre marriage test status and PND test status, were obtained from registered medical records...
November 29, 2018: Hemoglobin
Preetinanda M Dash, Praveen K Sahu, Siris Patel, Ranjeet S Mashon, Kiran R Kharat, Malay B Mukherjee
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. Comprehensive genetic characterization of such a population is highly warranted for complete understanding of the clinical heterogeneity, disease prognosis and therapeutic management...
November 29, 2018: Hemoglobin
Qiang Li, Yihong Li, Mei Zhong, Victor Wei Zhang, Wangjie Jin, Shaoyuan Li, Liyan Li
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 - -SEA (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p.Phe43Leu) mutation. Our study highlights the importance of continuous fetal monitoring using ultrasonography and blood screening studies of fetuses...
November 29, 2018: Hemoglobin
Z M Zhang, Y R Lai, Q C Li, L Luo, R R Liu, L L Shi, L J Liu
Objective: To explore the diagnosis, treatment and prognosis of autoimmune hemolytic anemia (AIHA) after allo-HSCT in patients with thalassemia major (TM). Methods: A retrospective analysis of AIHA status after allo-HSCT in 291 TM patients from July 2007 to December 2017 was conducted. Results: Five of the 291 TM patients (1.72%) were diagnosed with post-transplant AIHA. The median time of AIHA was 7 (5-12) months after HSCT. All post-transplant AIHA patients were positive in direct and indirect Coombs test, the main clinical manifestations were dizziness, fatigue, pale complexion, skin and sclera yellow, and soy sauce urine...
November 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Farid Rashidi, Hossein Sate, Ali Mohammadi, Ata Koohi, Babak Nejati, Ahad Naybzadeh
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. Patients with valvular left heart disease, congenital heart diseases such as atrial septal defect (ASD) and ventricular septal defect (VSD), left heart failure, and chronic embolism were excluded...
November 23, 2018: Pediatric Hematology and Oncology
Wafaa Bouyarmane, Jean Uwingabiye, Asmaa Biaz, Achraf Rachid, Youness Mechal, Abdellah Dami, Sanae Bouhsain, Zhor Ouzzif, Samira El Machtani Idrissi
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.
November 2018: Clinical Case Reports
Christian Nasir, Nelly Rosdiana, Aridamuriany Dwiputri Lubis
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...
October 25, 2018: Open Access Macedonian Journal of Medical Sciences
Taylor L Turnbull, Peter M Houston, Nicholas I Batalis
No abstract text is available yet for this article.
September 1, 2018: American Surgeon
Murtadha Al-Khabori, Shahina Daar, Said A Al-Busafi, Humoud Al-Dhuhli, AlGhalya A Alumairi, Moez Hassan, Sara Al-Rahbi, Umaima Al-Ajmi
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. The median age was 26.7 years. The median of the average 5-year serum ferritin (5yrSF) and liver iron concentration (LIC) assessed by MRI T2* were 1326 µg/L and 6...
December 2019: Hematology (Amsterdam, Netherlands)
I Astadicko, M F Dresse, M C Seghaye
Sickle cell disease (SCD) is a genetic disorder due to an abnormal gene coding for the chain ? of the hemoglobin. The main clinical manifestations related to the major forms of SCD (SS-, SC-, and S-thalassemia) are chronic hemolysis, susceptibility to infections and vasoconstrictive crisis causing micro-emboli and/or infarction responsible for acute or chronic organ lesions. The latest are enhanced by tissue iron overload due to repeated blood transfusions. Cardiac complications are an important part of morbidity and mortality of SCD...
November 2018: Revue Médicale de Liège
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