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Alpha thalassemia

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https://www.readbyqxmd.com/read/28446958/syndromic-disorder-of-sex-development-due-to-a-novel-hemizygous-mutation-in-the-carboxyl-terminal-domain-of-atrx
#1
Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28446301/-analysis-of-gene-mutation-types-of-thalassemia-in-longyan-area-of-fujian-province-in-china
#2
Qing-Fu Dai, Xiao-Lu Li, Yu-Xia Wang, Chun-Fang Cao
OBJECTIVE: To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects. METHODS: The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot hybridization (RDB)...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28395727/-preparation-and-identification-of-the-polyclonal-antibody-against-atrx-c2193-2492
#3
Shuangyang Tang, Zhimin Liu, Ranhui Li, Yan Chen, Lanhua Zhao, Haiyan Shen, Yanping Wan
Objective To prepare the polyclonal antibody against human alpha thalassemia/mental retardation syndrome X-linked (ATRX) C-terminal and study the distribution and expression of ATRX protein in human cervical cancer tissues. Methods The antiserum was obtained from the BALB/c mice immunized with (6)His-ATRX-C2193-2492 protein and then purified by the saturated ammonium sulfate precipitation and affinity chromatography. The titer of anti-ATRX polyclonal antibody was determined by ELISA. Its specificity was identified by SDS-PAGE analysis and Western blotting...
April 2017: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
https://www.readbyqxmd.com/read/28381365/alpha-thalassemia-major-and-restrictive-foramen-ovale-in-a-preterm-neonate-without-severe-hydrops-fetalis
#4
Shih-Yun Hsu, Shih-Hsiang Cheng, Ren-Huei Fu
No abstract text is available yet for this article.
March 18, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28342932/changes-in-hba2-and-hbf-in-alpha-thalassemia-carriers-with-klf1-mutation
#5
Stefania Satta, Maria Elisabetta Paglietti, Maria Carla Sollaino, Susanna Barella, Paolo Moi, Maria Franca Desogus, Franca Rosa Demartis, Laura Manunza, Raffaella Origa
α-thalassemia carriers are common in Mediterranean regions, particularly in the Sardinian population. Their haematological phenotype is characterized by reduced MCV and/or MCH with normal or slightly reduced HbA2 levels and normal HbF. Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for haematopoiesis. Mutations in the KLF1 gene trigger a series of benign human red blood phenotypes, such as an increase in HbA2 and HBF. Recently, it has been found that KLF1 mutations were a frequent cause of borderline HbA2 levels in a group of Sardinian subjects...
March 18, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28337528/a-molecular-study-on-the-role-of-alpha-hemoglobin-stabilizing-protein-in-hemoglobin-h-disease
#6
Pacharapan Surapolchai, Ampaiwan Chuansumrit, Nongnuch Sirachainan, Praguywan Kadegasem, Ka-Chun Leung, Chi-Chiu So
The clinical course of hemoglobin H (HbH) disease is remarkably variable. It is not completely clear how genetic and environmental factors interplay to modify clinical severity in affected individuals. Previous studies suggested that altered structure or function of alpha-hemoglobin-stabilizing protein (AHSP) could modify the clinical phenotypes of thalassemias. The present study attempted to explore the potential role of AHSP in the pathophysiology of HbH disease in 95 Chinese and Thai/Sino-Thai patients with deletional and non-deletional form of this disease...
March 23, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28330575/clinical-management-of-the-homozygous-%C3%AE-thalassemia-with-unusual-mandibular-manifestation-of-hematopoiesis
#7
J A Ruiz-Roca, R E Oñate-Sánchez, I Urrutia-Rodríguez, A Martínez-Izquierdo, D Mengual-Pujante, F J Rodríguez-Lozano
Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment...
February 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28293299/identification-of-epigenetic-signature-associated-with-alpha-thalassemia-mental-retardation-x-linked-syndrome
#8
Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner, Kym M Boycott, Charles Schwartz, Bekim Sadikovic
BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation of histone H3 and DNA methylation, while mutations in the ATRX gene may lead to the downstream epigenetic and transcriptional effects. Elucidating the underlying epigenetic mechanisms altered in ATR-X will provide a better understanding about the pathobiology of this disease, as well as provide novel diagnostic biomarkers...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28277912/fetal-hemoglobin-bart-s-hydrops-fetalis-pathophysiology-prenatal-diagnosis-and-possibility-of-intrauterine-treatment
#9
Phudit Jatavan, Nipon Chattipakorn, Theera Tongsong
This review aimed to comprehensively summarize current available reports regarding the ultrasound markers and biomarkers in predicting fetal Hb Bart's disease and evaluate the potential role of cardiac function assessment in a clinical practice. This review involves various methods in prenatal predicting fetal Hb Bart's disease or alpha-thalassemia major and attempts to provide valuable insights regarding the underlying mechanisms responsible for heart failure in Hb Bart's fetuses. Moreover, this information may be used to predict the cardiac function before the development of hydrops fetalis...
March 1, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28276593/association-between-sickle-cell-anemia-and-alpha-thalassemia-reveals-a-high-prevalence-of-the-%C3%AE-3-7-triplication-in-congolese-patients-than-in-worldwide-series
#10
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, Aimé Lumaka, Pierre Zalagile Akilimali, Koenraad Devriendt, Gert Matthijs, Jean-Marie Mbuyi Muamba, Valerie Race
BACKGROUND: Information about the association with alpha thalassemia in sickle cell patients is unknown in the Democratic Republic of Congo. There is very little data on the alpha thalassemia in patients suffering from sickle cell anemia in Central Africa, and their consequences on the clinical expression of the disease. METHODS: A cross-sectional study was conducted in 106 sickle cell patients living in the country's capital Kinshasa. The diagnosis of sickle cell anemia was confirmed with a molecular test using PCR-RFLP (restriction fragment length polymorphism) technique...
March 9, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28271343/new-molecular-considerations-for-glioma-idh-atrx-braf-tert-h3-k27m
#11
REVIEW
Michael Karsy, Jian Guan, Adam L Cohen, Randy L Jensen, Howard Colman
PURPOSE OF REVIEW: This review will discuss the role of several key players in glioma classification and biology, namely isocitrate dehydrogenase 1 and 2 (IDH1/2), alpha thalassemia/mental retardation syndrome X-linked (ATRX), B-Raf (BRAF), telomerase reverse transcriptase (TERT), and H3K27M. RECENT FINDINGS: IDH1/2 mutation delineates oligoden-droglioma, astrocytoma, and secondary glioblastoma (GBM) from primary GBM and lower-grade gliomas with biology similar to GBM...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28251430/atrx-status-correlates-with-11%C3%A2-c-methionine-uptake-in-who-grade-ii-and-iii-gliomas-with-idh1-mutations
#12
Takahiro Ogishima, Kaoru Tamura, Daisuke Kobayashi, Motoki Inaji, Shihori Hayashi, Reina Tamura, Tadashi Nariai, Kenji Ishii, Taketoshi Maehara
Recent studies on gliomas have shown frequent alterations in the alpha-thalassemia/mental retardation syndrome X-linked gene (ATRX). This study was designed to determine whether ATRX status correlates with uptake of (11)C-methionine in WHO grades II and III gliomas. Sixty-two patients underwent (11)C-methionine positron emission tomography scans prior to histological diagnosis. The tumor-to-normal ratio (T/N) of (11)C-methionine uptake was calculated by dividing the maximum standardized uptake value (SUV) for the tumor by the mean SUV of the normal brain...
January 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28237490/study-of-concentration-of-amniotic-fluid-alpha-fetal-protein-in-thalassemia-fetus
#13
Yi Ling, Yan-Hong Yu, Song Jin, Chun-Xia Hu, Wei Peng, Hong-Yu Zhang, Huo Fu, Ning Zhang, Yan-Xin Wei
OBJECTIVES: To test the hypothesis that concentration of amniotic fluid alpha-fetal protein (AFAFP) is increased in thalassemia fetus. METHODS: A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study. Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group. Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups...
February 2017: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/28217890/cerebellar-hemangioblastoma-with-perivascular-pseudorosette-formation-and-glial-differentiation-a-case-report
#14
Jian Wang, Xu-Yong Lin, Xue-Shan Qiu, En-Hua Wang, Lian-He Yang, Juan-Han Yu
Hemangioblastoma is a well-circumscribed, highly vascular, lipid-rich and low-grade tumor of uncertain histogenesis. Its histopathological features have been well established. Herein, we present a case of cerebellar hemangioblastoma in a 43-year-old woman. Histologically, the tumor was predominantly composed of cellular areas showing eosinophilic or vacuolated stromal cells arranged in nests and sheets. Focally, conventional reticular areas could be seen. Additionally, in some areas, the stromal cells were arranged radially around blood vessels, exhibiting perivascular pseudorosette structures, which were similar mostly to those of ependymomas...
August 24, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#15
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#16
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28100178/a-retinopathy-in-young-patient-with-co-inheritance-of-heterozygous-alpha%C3%A2-%C3%A2-thalassemia-and-sickle-trait-a-case-report
#17
Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa
BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/27981643/ugt1a1-ta-n-genotype-is-not-the-major-risk-factor-of-cholelithiasis-in-sickle-cell-disease-children
#18
Philippe Joly, Céline Renoux, Philippe Lacan, Yves Bertrand, Giovanna Cannas, Nathalie Garnier, Daniella Cuzzubbo, Kamila Kebaïli, Cécile Renard, Alexandra Gauthier, Vincent Pialoux, Cyril Martin, Marc Romana, Philippe Connes
OBJECTIVES: Because of the increased hemolytic rate, a significant proportion of patients with sickle cell disease (SCD) are prone to develop cholelithiasis. The present study investigated the role of several genetic factors (UGT1A1 promoter (TA)n repeat polymorphism, alpha-globin status), hematological parameters, clinical severity, and hydroxyurea (HU) therapy on the occurrence of cholelithiasis in SCD. METHODS: One hundred and fifty-eight children (2-18 yr old) regularly followed at the University Hospital of Lyon (France) were included...
March 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/27870471/analytical-evaluation-of-the-adams-%C3%A2-a1c-ha-8180-thalassemia-mode-high-pressure-liquid-chromatography-analyser-for-the-measurement-of-hba2-and-hbf
#19
E Urrechaga
BACKGROUND: ADAMS(™) A1cHA-8180T is a HPLC system; within 3.5 min, it quantifies HbF, HbA2 , and HbA0 and flags abnormal peaks. We evaluate its analytical performance for routine estimation of HbA2 and HbF, and critical tests were performed for identifying β-thalassemia carriers. METHODS: Trueness imprecision, carry over, linearity, and effect of anemia were evaluated according to ICLH, ICLS, or manufacture's guidelines. Comparison (ADAMS(™) A1c HA-8160T) was performed by running 400 samples from healthy subjects, 30 alpha and 80 beta carriers (range: 1...
December 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27862048/favorable-outcomes-after-in-utero-transfusion-in-fetuses-with-alpha-thalassemia-major-a-case-series-and-review-of-the-literature
#20
Emily M Kreger, Sylvia T Singer, Russell G Witt, Nancy Sweeters, Billie Lianoglou, Ashutosh Lal, Tippi C Mackenzie, Elliott Vichinsky
OBJECTIVE: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described. METHODS: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence...
December 2016: Prenatal Diagnosis
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