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Alpha thalassemia

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https://www.readbyqxmd.com/read/29318368/increased-levels-of-advanced-glycation-end-products-positively-correlate-with-iron-overload-and-oxidative-stress-markers-in-patients-with-%C3%AE-thalassemia-major
#1
Maryam Sadat Mirlohi, Hamid Yaghooti, Saeed Shirali, Ali Aminasnafi, Samaneh Olapour
The impaired biosynthesis of the β-globin chain in β-thalassemia leads to the accumulation of unpaired alpha globin chains, failure in hemoglobin formation, and iron overload due to frequent blood transfusion. Iron excess causes oxidative stress and massive tissue injuries. Advanced glycation end products (AGEs) are harmful agents, and their production accelerates in oxidative conditions. This study was conducted on 45 patients with major β-thalassemia who received frequent blood transfusions and chelation therapy and were compared to 40 healthy subjects...
January 9, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29294574/-outcomes-of-pregnancy-among-women-with-alpha-thalassemia-minor-a-retrospective-study-of-pingguo-county-in-guangxi-zhuang-autonomous-region
#2
T Pang, X F Guo, Y H Zhou, X Q Qiu, S Li, Z R Liang, X L Qin, K H Li, X Y Zeng
Objective: To investigate the association between the value of α-thalassemia minor and the outcomes in pregnant women. Methods: A total of 445 pregnant women with α-thalassemia minor were selected as thalassemia group in the Pingguo County Maternal and Child Health Hospital of Guangxi from January 2011 to December 2015, with ratio of 1∶4 healthy pregnant women was randomly recruited as non-thalassemia group. Clinical characteristics and pregnancy outcomes of the two groups were retrospectively analyzed using methods including t test, χ(2) test, and logistic regression model and ROC curve...
December 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/29291201/sickle-cell-and-alpha-thalassemia-traits-resulting-in-non-atherosclerotic-myocardial-infarction-beyond-coincidence
#3
Lee S Nguyen, Alban Redheuil, Olivier Mangin, Joe-Elie Salem
Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease. We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman, carrier of the alpha-thalassemia trait (homozygous deletion of locus -3.7) combined with sickle cell trait. While the patient was included as healthy volunteer for a metabolic study, we performed cardiac magnetic resonance imagery showing a left ventricle apicolateral myocardial infarction. Coronary computed tomography angiography showed normal coronary arteries with a coronary calcium score of 0...
December 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29273175/variability-in-state-based-recommendations-for-management-of-alpha-thalassemia-trait-and-silent-carrier-detected-on-the-newborn-screen
#4
Benjamin N Fogel, Hong Loan T Nguyen, Gayle Smink, Deepa L Sekhar
We conducted an inventory of state-based recommendations for follow-up of alpha thalassemia silent carrier and trait identified on newborn screen. We found wide variability in the nature and timing of these recommendations. We recommend a standardized recommendation to guide pediatricians in evidenced-based care for this population.
December 20, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29240037/fetal-anemia-causing-hydrops-fetalis-from-an-alpha-globin-variant-homozygous-hemoglobin-constant-spring
#5
Patcharee Komvilaisak, Ratana Komvilaisak, Arunee Jetsrisuparb, Surapon Wiangnon, Junya Jirapradittha, Pakaphan Kiatchoosakun, Goonapa Fucharoen
BACKGROUND: Fetal anemia is often assumed to be due to red cell alloimmunization and Parvovirus infection, and can lead to hydrops fetalis and death in utero. Other causes, such as mutations of hemoglobin alpha, are less commonly considered. METHODS: We report 7 cases with fetal anemia causing hydrops fetalis. Serial Doppler ultrasound for measurement peak systolic velocity (PSV) of middle cerebral artery (MCA) was used for evaluation of fetal anemia. Fetal anemia is suggested if the MCA/PSV ratio is >1...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29236053/cut-off-values-of-hematologic-parameters-to-predict-the-number-of-alpha-genes-deleted-in-subjects-with-deletional-alpha-thalassemia
#6
Diego Velasco-Rodríguez, Carlos Blas, Juan-Manuel Alonso-Domínguez, Gala Vega, Carlos Soto, Aránzazu García-Raso, Pilar Llamas-Sillero
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional α-thalassemia (56 heterozygous α⁺ thalassemia, 36 homozygous α⁺ thalassemia, 29 heterozygous α⁰ thalassemia and 8 cases of Hb H disease)...
December 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29218432/the-2016-revision-of-the-who-classification-of-central-nervous-system-tumours-retrospective-application-to-a-cohort-of-diffuse-gliomas
#7
Te Whiti Rogers, Gurvinder Toor, Katharine Drummond, Craig Love, Kathryn Field, Rebecca Asher, Alpha Tsui, Michael Buckland, Michael Gonzales
The classification of central nervous system tumours has more recently been shaped by a focus on molecular pathology rather than histopathology. We re-classified 82 glial tumours according to the molecular-genetic criteria of the 2016 revision of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System. Initial diagnoses and grading were based on the morphological criteria of the 2007 WHO scheme. Because of the impression of an oligodendroglial component on initial histological assessment, each tumour was tested for co-deletion of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH-1 and 2) genes...
December 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29202846/haplotypes-inside-the-beta-globin-gene-use-as-new-biomarkers-for-beta-thalassemia-prenatal-diagnosis-in-north-of-iran
#8
Mohammad Bagher Hashemi-Soteh, Seyed Saeed Mousavi, Alireza Tafazoli
BACKGROUND: Beta-thalassemia is common in the Mediterranean area as well as the Middle East and India. Official report in Iran revealed the average prevalence rate of carriers about 4%. More than 20 restriction fragment length polymorphisms (RFLPs) are known in the beta-globin gene cluster and used in the prenatal diagnosis (PND) services. Some of these locations may have low allele frequency and are not informative in the prenatal diagnosis. The current study aims to find new haplotypes and polymorphisms with high allele frequency in the local population...
December 4, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29115104/molecular-basis-of-%C3%AE-thalassemia-in-iran
#9
Atefeh Valaei, Morteza Karimipoor, Alireza Kordafshari, Sirous Zeinali
Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common type of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the frequency and distribution of α-globin mutations in various regions of the country have been studied in recent years. A comprehensive search was performed in PubMed, Scopus, and national databases for finding reports on mutation detection in α-thal carriers and HbH disease with Iranian origin...
January 1, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29090069/the-frequency-and-importance-of-common-%C3%AE-globin-gene-deletions-among-%C3%AE-thalassemia-carriers-in-an-iranian-population
#10
Azam Moosavi, Ali M Ardekani
BACKGROUND: β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manifestations of beta thalassemia, in known beta-thalassemia carriers and some hematology parameter changes...
October 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/29075082/response-to-alpha-interferon-treatment-of-the-congenital-dyserythropoietic-anemia-type-i-in-two-sicilian-beta-thalassemia-carriers
#11
V Agrigento, R Barone, S Sclafani, R Di Maggio, M Sacco, A Maggio, E D'Alcamo
Congenital dyserythropoietic anemia type I (CDAI) is an autosomal recessive inherited haematological disorder associated with moderate-to-severe anemia characterized by ineffective erythropoiesis with distinct morphological abnormalities in erythroid precursors. We present two case of congenital dyserythropoietic anemia type I in two Sicilian patients heterozygous for β0 39 globin gene cod 39 C > T with marked bone marrow abnormalities, responding to treatment with alpha interferon. The diagnosis was established using routine haematological and biochemical test, light and electron microscopy; molecular analysis of the CDAN1 gene associated to the CDAI disease was performed...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29049312/impact-of-annotation-error-in-%C3%AE-globin-genes-on-molecular-diagnosis
#12
J Francis Borgio
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...
2017: PloS One
https://www.readbyqxmd.com/read/29026176/primary-astrocytic-tumours-and-paired-recurrences-have-similar-biological-features-in-idh1-tp53-and-tertp-mutation-and-mgmt-atrx-loss
#13
Xia Li, Jie Wei, Yixiong Liu, Peifeng Li, Linni Fan, Yingmei Wang, Mingyang Li, Danhui Zhao, Zhou Yu, Jing Ye, Ying Guo, Qingguo Yan, Shuangping Guo, Zhe Wang
Astrocytic tumours are the most common type of primary malignant brain tumour. Most astrocytic tumours will recur at some point after surgery. Currently, the combination of radiotherapy and chemotherapy does not prevent the recurrence of astrocytic tumours. In this study, we investigated the consistency in isocitrate dehydrogenase 1 (IDH1), tumour protein p53 (TP53) and telomerase reverse transcriptase promoter (TERTp) mutations during astrocytic tumour recurrence. We also evaluated the protein loss of O-6-methylguanine-DNA methyltransferase (MGMT) and alpha-thalassemia/mental retardation, X-linked (ATRX) during disease recurrence...
October 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28981928/-molecular-epidemiological-survey-of-hemoglobinopathies-in-yongzhou-area-of-hunan-province
#14
Jie Tian, Deguo Tang, Shaohui Yang, Ju Wang, Yanmin Ai, Miao Zhang
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. Known beta-thalassemia mutations were screened in samples with beta-thalassemia trait...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981562/rare-%C3%AE-0-thalassemia-deletions-detected-by-mlpa-in-five-unrelated-brazilian-patients
#15
Natália O Mota, Elza M Kimura, Roberta D Ferreira, Gisele A Pedroso, Dulcinéia M Albuquerque, Daniela M Ribeiro, Magnun N N Santos, Cristina M Bittar, Fernando F Costa, Maria de Fatima Sonati
Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region...
October 2, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28980701/isocitrate-dehydrogenase-mutant-glioma-evolving-clinical-and-therapeutic-implications
#16
REVIEW
Julie J Miller, Helen A Shih, Ovidiu C Andronesi, Daniel P Cahill
The metabolic genes isocitrate dehydrogenase 1 (IDH1) and IDH2 are commonly mutated in low-grade glioma and in a subset of glioblastoma. These mutations co-occur with other recurrent molecular alterations, including 1p/19q codeletions and tumor suppressor protein 53 (TP53) and alpha thalassemia/mental retardation (ATRX) mutations, which together help to define a molecular signature that aids in the classification of gliomas and helps to better predict clinical behavior. A confluence of research suggests that glioma development in IDH-mutant and IDH wild-type tumors is driven by different oncogenic processes and responds differently to current treatment paradigms...
December 1, 2017: Cancer
https://www.readbyqxmd.com/read/28901965/anaplastic-gliomas-in-adults-an-update
#17
Cristina Izquierdo, Bastien Joubert, François Ducray
PURPOSE OF REVIEW: The current review summarizes recent advances on the oncogenesis, classification and treatment of adult anaplastic gliomas. RECENT FINDINGS: According to the 2016 WHO classification, three main molecular subgroups of adult diffuse anaplastic gliomas can be distinguished based on the 1p/19q codeletion and isocitrate dehydrogenase (IDH) mutation status. In the future, this classification may be further refined based on the telomerase reverse transcriptase promoter and alpha thalassemia/mental retardation syndrome X-linked mutation status, gene expression, DNA methylation and genomic profiling...
November 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28900367/measurement-of-hba1c-and-hba2-by-capillarys-2-flex-piercing-hba1c-programme-for-simultaneous-management-of-diabetes-and-screening-for-thalassemia
#18
Peifeng Ke, Jiawei Liu, Yan Chao, Xiaobin Wu, Yujuan Xiong, Li Lin, Zemin Wan, Xinzhong Wu, Jianhua Xu, Junhua Zhuang, Xianzhang Huang
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). For method comparison, HbA1c was quantified by Premier Hb9210 (Trinity Biotech, Ireland) in 98 thalassaemia patients samples...
October 1, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#19
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28891254/fetal-isovolumetric-time-intervals-as-a-marker-of-abnormal-cardiac-function-in-fetal-anemia-from-homozygous-alpha-thalassemia-1-disease
#20
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform...
October 2017: Prenatal Diagnosis
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