7,152 results match your criteria Thalassemia Alpha


Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum.

Biomed Res Int 2019 13;2019:2080352. Epub 2019 Mar 13.

Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, Tangier 90000, Morocco.

Unlike the other hemoglobinopathies, few researches have been published concerning -thalassemia in Morocco. The epidemiological features and the mutation spectrum of this disease are still unknown. This regional newborn screening is the first to study -thalassemia in the north of Morocco. Read More

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https://www.hindawi.com/journals/bmri/2019/2080352/
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http://dx.doi.org/10.1155/2019/2080352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436373PMC
March 2019
1 Read

Epidemiological, clinico-biological, therapeutic and evolutionary aspects of β-thalassemia in Morocco.

Ann Biol Clin (Paris) 2019 Apr;77(2):169-173

Laboratoire d'hématologie, Hôpital Avicenne, CHU Mohammed VI, Faculté de médecine et de pharmacie de Marrakech, Maroc.

Objective: Thalassemias is the consequence of a synthesis imbalance between the α and β chains of hemoglobin. It's a hereditary haemolytic anemias, which presents a problem of public health because of their frequency and the difficulties of their care. The objective of this work is to study the epidemiological, clinico-biological, therapeutic and evolutionary profile of thalassemic patients in Morocco. Read More

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http://dx.doi.org/10.1684/abc.2019.1433DOI Listing
April 2019
1 Read

[Analysis of Gene Mutation Types in 920 Cases of Thalassemia].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Apr;27(2):545-548

Department of Clinical laboratorial Examination, Laibin Maternal and Child Health Hospital, Laibin 546100, Guangxi Zhuang Autonomous Region, China.

Objective: To investigate the gene mutation types and distribution features of α- and β-thalassemia in reproductive population of Xing bin district of Guangxi Lai bin city so as to provide the scientific basis for formulating the preventive and control measures.

Methods: The high risk population with thalassemia in 6 498 people of child-bearing age admited in department of antenatal care of our hospital from January 2017 to December 2017 were screened by blood cell test and hemoglobin electrophoresis. The gene mutation types and mutation frequency in αandβthalassemia positive cases were diagnosed and analyzied by Gap-PCR and PCR-RDB. Read More

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2019.02.038DOI Listing
April 2019
2 Reads

[Significance of Tissue Factor-Bearing Microparticle Procoagulation Activity and Antithrombin Ⅲ Detection in Thalassemia Patients].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Apr;27(2):539-544

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

Objective: To explore whether the high risk factors possibly leading to hypercoagulative status and thrombosis exist in Thalassemia patients of Guangxi region through detecting plasma tissne factor-bearing microparticles (TFMP), procoagulatima activity, coagulation and anticoagulation function, fibrinolytic function, endothelial function and platelet count.

Methods: The TFMP procoagulation activity was detected by chromogenic saubstract method, the levels of tissue factors (TF), tissue factor pathway inhibitor(TFPI), protein C (PC), protein S (PS), antithrombin Ⅲ(AT-Ⅲ), tissue plasminogen activator (tPA), thrombin-activated fibrinolysis inhibitor (TAFI), soluble E-selectin (sE-sel), intercellular adhesion molecule-1 (ICAM-1) and thrombomodulin (TM) were detected by ELISA in thalassemia group (n=71) and control group (n=20 heathy persons).

Results: Compared with control group, the AT-Ⅲ level decreased in β-thalastemia major group (TM) (P<0. Read More

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2019.02.037DOI Listing
April 2019
1 Read

Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husband.

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):323-325

Department of Hematology, Central Reference Laboratory, SRL Limited, Mumbai, Maharashtra, India.

Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have been reported from India in the past. Read More

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http://dx.doi.org/10.4103/IJPM.IJPM_218_18DOI Listing
April 2019
1 Read

Loss of atrx cooperates with p53-deficiency to promote the development of sarcomas and other malignancies.

PLoS Genet 2019 Apr 10;15(4):e1008039. Epub 2019 Apr 10.

Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, United States of America.

The SWI/SNF-family chromatin remodeling protein ATRX is a tumor suppressor in sarcomas, gliomas and other malignancies. Its loss of function facilitates the alternative lengthening of telomeres (ALT) pathway in tumor cells, while it also affects Polycomb repressive complex 2 (PRC2) silencing of its target genes. To further define the role of inactivating ATRX mutations in carcinogenesis, we knocked out atrx in our previously reported p53/nf1-deficient zebrafish line that develops malignant peripheral nerve sheath tumors and gliomas. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008039DOI Listing
April 2019
1 Read

Non-transfusion-dependent β-Thalassemia Because of a Single β-Thalassemia Mutation and Coinherited α-Globin Gene Triplication: Need for Increased Awareness to Prevent Incorrect and Delayed Diagnosis.

J Pediatr Hematol Oncol 2019 Apr 8. Epub 2019 Apr 8.

Division of Hematology.

The thalassemias are genetically complex and usually autosomal recessive. We describe 5 unrelated individuals with non-transfusion-dependent β-thalassemia (NTDT), some with apparently dominant transmission, because of a single β-thalassemia mutation coinherited with a triplicated α-globin locus. Each had an initial, incorrect diagnosis of β-thalassemia trait. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001470DOI Listing
April 2019
1 Read

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

Mol Genet Genomic Med 2019 Apr 9:e680. Epub 2019 Apr 9.

Department of Hematology, Peking Union Medical College, Chinese Academe of Medical Science, Beijing, China.

Background: Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported. Read More

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http://dx.doi.org/10.1002/mgg3.680DOI Listing
April 2019
1 Read

Microcytosis in children and adolescents with the sickle cell trait in Basra, Iraq.

Blood Res 2019 Mar 21;54(1):38-44. Epub 2019 Mar 21.

Center for Hereditary Blood Diseases, Basrah Heath Directorate, Basrah, Iraq.

Background: Microcytic anemia, the most common form of anemia in children and adolescents, is a heterogeneous group of diseases that is acquired or inherited. We assessed the frequency and causes of microcytosis in children and adolescents with the sickle cell trait (SCT).

Methods: This descriptive study included 95 subjects (49 males and 46 females) with SCT who attended Basra Center for Hereditary Blood Diseases for evaluation. Read More

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http://dx.doi.org/10.5045/br.2019.54.1.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439302PMC
March 2019
1 Read

Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology.

Blood Res 2019 Mar 21;54(1):17-22. Epub 2019 Mar 21.

Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Read More

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http://dx.doi.org/10.5045/br.2019.54.1.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439293PMC
March 2019
3 Reads

Increased endothelial activation in α-thalassemia disease.

Ann Hematol 2019 Apr 5. Epub 2019 Apr 5.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Ratchathewi District, Bangkok, 10400, Thailand.

One complication of thalassemia is thromboembolism (TE), which is caused by an abnormal red blood cell surface, as well as endothelial and platelet activation. These findings are commonly observed in severe β-thalassemia. However, limited information on α-thalassemia exists. Read More

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http://dx.doi.org/10.1007/s00277-019-03672-4DOI Listing

[Molecular genetic diagnosis of a carrier with rare α-thalassemia mutations].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr;36(4):368-370

Department of Clinical Laboratory, the Affiliated Hospital, Translational Medicine Research Center, Department of Laboratory Medicine, North Sichuan Medical College, Nanchong, Sichuan 637000, China. Email:

Objective: To explore the cause of inconsistent genotypes for an α-thalassemia carrier by using two commercial genotyping kits.

Methods: GAP-PCR and PCR-reverse dot blotting (PCR-RDB) were employed to determine the genotype of the carrier, while Sanger sequencing was used to verify the results.

Results: Sequencing analysis demonstrated that the subject has carried a α1 globin gene with a 3. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.04.019DOI Listing
April 2019
3 Reads

[Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr;36(4):297-300

Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect Research, Fuzhou, Fujian 350001, China. Email:

Objective: To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area.

Methods: Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.04.002DOI Listing
April 2019
12 Reads

Beta-thalassemia: renal complications and mechanisms: a narrative review.

Hematology 2019 Dec;24(1):426-438

f Department of Nephrology , Hippokration Hospital, Aristotle University of Thessaloniki , Thessaloniki , Greece.

Objectives: Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin chain synthesis, ineffective erythropoiesis, and anemia. Improved survival in thalassemic patients has led to the emergence of previously unrecognized complications, such as renal disease.

Methods: A comprehensive literature review through PubMed was undertaken to summarize the published evidence on the epidemiology and pathophysiology of renal disease in thalassemia. Read More

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http://dx.doi.org/10.1080/16078454.2019.1599096DOI Listing
December 2019
2 Reads
1.189 Impact Factor

High frequency of H3K27M immunopositivity in adult thalamic glioblastoma.

Neuropathology 2019 Apr;39(2):78-84

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Adult thalamic glioblastomas (GBM) are uncommon tumors with limited available molecular data. One of the reported molecular alterations in these tumors is the H3K27M mutation. It has been documented that H3K27M mutation is found in a high proportion of pediatric thalamic gliomas. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/neup.12537
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http://dx.doi.org/10.1111/neup.12537DOI Listing
April 2019
9 Reads

Authors' Response: Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major.

Pediatr Dev Pathol 2019 Mar 28:1093526619837086. Epub 2019 Mar 28.

5 Department of Obstetrics and Gynecology, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1177/1093526619837086DOI Listing

Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major.

Pediatr Dev Pathol 2019 Mar 28:1093526619837782. Epub 2019 Mar 28.

2 Department of Ultrasound, The Sixth Affiliated Hospital of SunYat-sen University, Guangzhou, Guangdong, China.

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http://dx.doi.org/10.1177/1093526619837782DOI Listing

Iron Metabolism and Oxidative Status in Patients with Hb H Disease.

Hemoglobin 2019 Mar 27:1-4. Epub 2019 Mar 27.

a Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Department of Pediatrics , Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University , Guangzhou, Guangdong Province , People's Republic of China.

To evaluate the iron metabolism and oxidative status in patients with Hb H disease, we investigated 43 patients with Hb H disease, including eight deletional Hb H disease patients and 35 nondeletional Hb H disease patients and 20 healthy controls. The levels of hematological parameters, serum ferritin, hepcidin, superoxide dismutase (SOD), malondialdehyde (MDA) and total antioxidant capacity (TAC), were examined. We found higher serum ferritin levels and lower hepcidin, MDA and TAC levels in Hb H disease patients than in controls. Read More

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http://dx.doi.org/10.1080/03630269.2019.1575850DOI Listing

[Clinical features and prognosis of neonates with nonimmune hydrops fetalis].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Mar;21(3):253-258

Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.

Objective: To study the clinical features, etiology and prognosis of neonates with nonimmune hydrops fetalis (NIHF).

Methods: A retrospective analysis was performed for the clinical data and outcomes of 23 neonates with NIHF.

Results: Of the 23 neonates with NIHF, 18 (78%) were preterm infants and 5 (22%) were full-term infants; 12 (52%) had birth asphyxia (including 5 cases of severe asphyxia). Read More

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March 2019
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Effect of Previous Exposure to Malaria on Blood Pressure in Kilifi, Kenya: A Mendelian Randomization Study.

J Am Heart Assoc 2019 Mar;8(6):e011771

1 KEMRI-Wellcome Trust Research Programme Kilifi Kenya.

Background Malaria exposure in childhood may contribute to high blood pressure ( BP ) in adults. We used sickle cell trait ( SCT ) and αthalassemia, genetic variants conferring partial protection against malaria, as tools to test this hypothesis. Methods and Results Study sites were Kilifi, Kenya, which has malaria transmission, and Nairobi, Kenya, and Jackson, Mississippi, where there is no malaria transmission. Read More

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http://dx.doi.org/10.1161/JAHA.118.011771DOI Listing
March 2019
2 Reads

Dietary fatty acids fine-tune Piezo1 mechanical response.

Nat Commun 2019 03 13;10(1):1200. Epub 2019 Mar 13.

Department of Physiology, College of Medicine, University of Tennessee Health Science Center, 71S. Manassas St., Memphis, TN, 38163, USA.

Mechanosensitive ion channels rely on membrane composition to transduce physical stimuli into electrical signals. The Piezo1 channel mediates mechanoelectrical transduction and regulates crucial physiological processes, including vascular architecture and remodeling, cell migration, and erythrocyte volume. The identity of the membrane components that modulate Piezo1 function remain largely unknown. Read More

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http://dx.doi.org/10.1038/s41467-019-09055-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416271PMC
March 2019
2 Reads

Prevalence and Genetic Analysis of - and -Thalassemia and Sickle Cell Anemia in Southwest Iran.

J Epidemiol Glob Health 2018 Dec;8(3-4):189-195

Research Center of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

This prospective study assessed the prevalence and genetic analysis of - and -thalassemia and sickle cell anemia (SCA) in Southwest Iran. Hematological indices were measured in 17,581 couples living in Khuzestan Province, Southwest Iran. Individuals with mean corpuscular volume <80, mean corpuscular hemoglobin <27, hemoglobin A2 ≥3/5 were considered as -thalassemia traits. Read More

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http://dx.doi.org/10.2991/j.jegh.2018.04.103DOI Listing
December 2018
4 Reads

Identification of a Novel 9.7 kb Deletion Causing α-Thalassemia in Two Pregnant Women in Southern China.

Hemoglobin 2018 May;42(3):209-212

a Laboratory of Genetics and Metabolism , Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Xiangzhu , Nanning , Guangxi Zhuang Autonomous Region , People's Republic of China.

The technique of combining multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (CGH) and gap-polymerase chain reaction (gap-PCR) is an effective way to locate unknown breakpoints on the α-globin genes. In the current report, a novel deletion was detected in two pregnant women with moderate hematological phenotypes. Multiplex ligation-dependent probe amplification and array CGH revealed a probable 9. Read More

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http://dx.doi.org/10.1080/03630269.2018.1516673DOI Listing
May 2018
1 Read

Various α-Thalassemia Genotype Combinations of the Saudi-Type Polyadenylation Signal Mutation (αα) in the Population of Bahrain: An Update of Genotype-Phenotype Analyses.

Hemoglobin 2018 May;42(3):166-170

a Genetic Laboratory, Department of Pathology , Salmaniya Medical Complex , Manama , Kingdom of Bahrain.

The Saudi-type polyadenylation (polyA) signal mutation on the α2-globin gene, HBA2: c.*94A > G; AATAAA>AATAAG; αα, is one of the major α-thalassemia (α-thal) determinants in the population of Bahrain. We determined five different genotype combinations involving this mutation in Bahrain. Read More

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http://dx.doi.org/10.1080/03630269.2018.1499523DOI Listing
May 2018
2 Reads

First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.

Hemoglobin 2019 Mar 7:1-3. Epub 2019 Mar 7.

a Molecular Biology and Biotechnology Department, Human Genetics Division , Atomic Energy Commission of Syria , Damascus , Syria.

We describe a proband originating from Al-Quneitra Province, Syria. His hematology data was as follows: Hb A 24.7%, Hb F 71. Read More

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http://dx.doi.org/10.1080/03630269.2019.1577254DOI Listing
March 2019
1 Read

Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China.

Sci Rep 2019 Mar 5;9(1):3493. Epub 2019 Mar 5.

Prenatal Diagnosis Center of Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, China.

Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China. Read More

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http://dx.doi.org/10.1038/s41598-019-40089-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400947PMC
March 2019
5 Reads

A cytosine-rich splice-regulatory determinant enforces functional processing of the human gene transcript.

Blood 2019 Mar 4. Epub 2019 Mar 4.

Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

The establishment of efficient and stable splicing patterns in terminally differentiated cells is critical to maintenance of specific functions throughout the lifespan of an organism. The human gene contains three exons separated by two short introns. Naturally occurring α-thalassemia mutations that trigger aberrant splicing have revealed the presence of cryptic splice sites within the gene transcript. Read More

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http://dx.doi.org/10.1182/blood-2018-12-891408DOI Listing
March 2019
1 Read

Red Cell Indices and Hemoglobin Profile of Newborn Babies with Both the Sickle Gene and Alpha Thalassaemia in Central India.

Indian J Hematol Blood Transfus 2019 Jan 1;35(1):109-113. Epub 2018 Aug 1.

1National Institute of Immunohaematology (ICMR), 13th Floor, Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai, 400012 India.

This study evaluated the effect of alpha thalassemia on the red cell indices and hemoglobin profiles of normal, sickle heterozygous and sickle homozygous newborn babies in central India where the sickle gene is linked to the Arab-Indian haplotype. 265 newborn babies were analysed with complete blood count and hemoglobin analysis on high performance liquid chromatography (Variant Hb Testing System, BioRad Laboratories, Hercules, CA, USA) using the β-thal short program. The sickle genotypes was confirmed by DNA analysis. Read More

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http://dx.doi.org/10.1007/s12288-018-0994-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369061PMC
January 2019
1 Read

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

BMC Hematol 2019 18;19. Epub 2019 Feb 18.

1Department of Medical Laboratory Sciences, Al-Quds University, East Jerusalem, Palestine.

Background: We aimed to investigate the molecular basis of β-Thalassemia intermedia (TI) in the West Bank region and its management practices.

Methods: This was a case series multi-center study and included 51 cases of TI. DNA sequencing was used to analyze β-globin gene mutations. Read More

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http://dx.doi.org/10.1186/s12878-019-0135-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380065PMC
February 2019
3 Reads

Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E.

Proteomes 2019 Feb 23;7(1). Epub 2019 Feb 23.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

β-thalassemia/Hb E is a global health issue, which is characterized by a range of clinical symptoms from a mild and asymptomatic anemia to severe disorders that require transfusions from infancy. Pathological mechanisms of the disease involve the excess of unmatched alpha globin and iron overload, leading to ineffective erythropoiesis and ultimately to the premature death of erythroid precursors in bone marrow (BM) and peripheral organs. However, it is unclear as to how BM microenvironment factors contribute to the defective erythropoiesis in β-thalassemia/Hb E patients. Read More

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http://dx.doi.org/10.3390/proteomes7010008DOI Listing
February 2019
1 Read

Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family.

Hemoglobin 2019 Feb 27:1-4. Epub 2019 Feb 27.

a Dongguan Maternal and Child Health Hospital , Prenatal Diagnosis Center , Dongguan , Guangdong , People's Republic of China.

The α-thal deletion of 3.557 kb (NG_000006.1: g. Read More

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http://dx.doi.org/10.1080/03630269.2019.1575849DOI Listing
February 2019
1 Read

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.

J Clin Lab Anal 2019 Feb 27:e22845. Epub 2019 Feb 27.

Center of Prenatal Diagnosis, Chenzhou No. 1 People's Hospital, Chenzhou, China.

Objectives: Thalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment.

Methods: In this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. Read More

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http://doi.wiley.com/10.1002/jcla.22845
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http://dx.doi.org/10.1002/jcla.22845DOI Listing
February 2019
9 Reads
1.144 Impact Factor

G-quadruplex DNA drives genomic instability and represents a targetable molecular abnormality in ATRX-deficient malignant glioma.

Nat Commun 2019 02 26;10(1):943. Epub 2019 Feb 26.

Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.

Mutational inactivation of ATRX (α-thalassemia mental retardation X-linked) represents a defining molecular alteration in large subsets of malignant glioma. Yet the pathogenic consequences of ATRX deficiency remain unclear, as do tractable mechanisms for its therapeutic targeting. Here we report that ATRX loss in isogenic glioma model systems induces replication stress and DNA damage by way of G-quadruplex (G4) DNA secondary structure. Read More

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http://dx.doi.org/10.1038/s41467-019-08905-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391399PMC
February 2019
3 Reads

Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations.

Lab Med 2019 Feb 26. Epub 2019 Feb 26.

Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

Background: Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases.

Methods: We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences-Clinical Services Center (AMS-CSC), Chiang Mai, Thailand. Read More

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http://dx.doi.org/10.1093/labmed/lmy087DOI Listing
February 2019

A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia.

Cancer Genet 2019 Feb 9;231-232:36-40. Epub 2019 Jan 9.

Department of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA. Electronic address:

Myelodysplastic syndromes (MDS) are a heterogeneous category of myeloid neoplasms that represent the most common class of acquired bone marrow failure syndromes in adults. MDS is typically associated with a hypoproliferative macrocytic anemia, but atypical findings on initial diagnostic evaluations can raise concern for a distinct pathophysiological process and lead to the investigation of alternative etiologies. Here, we report a case of MDS with a concomitant hypoproliferative microcytic and hypochromic anemia that led to the identification of acquired hemoglobin H due to a novel somatic ATRX mutation. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391734PMC
February 2019
3 Reads

Diffusion kurtosis imaging histogram parameter metrics predicting survival in integrated molecular subtypes of diffuse glioma: An observational cohort study.

Eur J Radiol 2019 Mar 15;112:144-152. Epub 2019 Jan 15.

Department of Neuroradiology, University Hospital Tübingen, Eberhard Karls University, Tübingen, Germany.

Purpose: The aim of the study was to assess the predictive value of preoperatively assessed diffusion kurtosis imaging (DKI) metrics as prognostic factors in the 2016 World Health Organization Classification of Tumors of the Central Nervous System integrated glioma groups.

Material And Methods: Seventy-seven patients with histopathologically confirmed treatment-naïve glioma were retrospectively assessed between 08/2013 and 10/2017 using mean kurtosis (MK) and mean diffusivity (MD) histogram parameters from DKI, overall and progression-free survival, and relevant prognostic molecular data (isocitrate dehydrogenase, [IDH]; alpha-thalassemia/mental retardation syndrome X-linked, [ATRX]; chromosome 1p/19q loss of heterozygosity). Receiver operating characteristic (ROC) analysis was performed on metric variables to determine the optimal cutoff-values. Read More

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http://dx.doi.org/10.1016/j.ejrad.2019.01.014DOI Listing
March 2019
2 Reads

Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.

BMC Pediatr 2019 Feb 18;19(1):61. Epub 2019 Feb 18.

Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.

Background: Beta thalassemia (β-thal) is an inherited hemoglobin disorder characterized by reduced synthesis of the hemoglobin that results in microcytic hypochromic anemia. β-Thalassemia intermedia (TI) is a clinical term of intermediate gravity between the carrier state and β-thalassemia major (β -TM).

Case Presentation: We describe a 12-year-old male proband originating from Al-Quneitra province - southwest Syria. Read More

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http://dx.doi.org/10.1186/s12887-019-1435-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378710PMC
February 2019
1 Read

Defective cytokine production from monocytes/macrophages of E-beta thalassemia patients in response to Pythium insidiosum infection.

Immunobiology 2019 Feb 8. Epub 2019 Feb 8.

Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address:

Background: Pythium insidiosum has been mainly reported to cause morbidity and mortality in thalassemia patients. P. insidiosum zoospores can germinate to be hyphae within a few hours; therefore, it is difficult to study the initial immune response that P. Read More

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http://dx.doi.org/10.1016/j.imbio.2019.02.002DOI Listing
February 2019
1 Read

IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.

Sci Transl Med 2019 Feb;11(479)

Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1) are younger at diagnosis and live longer. mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 ) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene (). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1 mutation. Read More

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http://dx.doi.org/10.1126/scitranslmed.aaq1427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400220PMC
February 2019
2 Reads

[Prevalence and Genetic Analysis of β-Thalassemia in Neonates in Wuhan Area of China].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Feb;27(1):170-174

Wuhan Children's Hospital(Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei Province, China.E-mail:

Objective: To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.

Methods: A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay. Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2019.01.027DOI Listing
February 2019
15 Reads

[Values of Hematological Indicators in the Screening of α-Thalassemia in Fujian Area of China].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Feb;27(1):165-169

Department of Clinical Laboratorial Examination, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China.E-mail:

Objective: To analyze the genotypes and the hematological phenotypic characteristics of α-thalassemia in different areas of Fujian and to evaluate the values of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), hemoglobin (Hb), RBC distribution width/red blood cell (RDW/RBC) for screening α-thalassemia in this area.

Methods: The Gap-PCR assay was applied for detecting 3 common deletional mutations of patients with α-thalassemia, and the reverse dot-blot (RDB) assay was adopted to detect the foci of 3 common non-deletional gene mutations.Then,the hematological parameters of individuals with α-thalassemia were analyzed. Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2019.01.026DOI Listing
February 2019
3 Reads

First Report of Association Between Rare α-Thalassemia Mutation (: c.298A>T) and Hb Fontainebleau (: c.64G>C).

Indian J Clin Biochem 2019 Jan 18;34(1):115-117. Epub 2018 Jun 18.

1Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.

α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical and hematological characteristics, which is of importance for genetic counseling. The present study describes for the first time a rare α1-globin nonsense mutation, codon 99 (: c. Read More

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http://dx.doi.org/10.1007/s12291-018-0765-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346615PMC
January 2019
5 Reads

Fetal anemia: Diagnosis and management.

Best Pract Res Clin Obstet Gynaecol 2019 Jan 9. Epub 2019 Jan 9.

Department of Obstetrics and Gynaecology, University of Brescia, Brescia, Italy.

Fetal anemia has been known for many years as a dangerous complication of pregnancy. Its most common causes are maternal alloimmunization and parvovirus B19 infection, although it can be associated with many different pathological conditions including fetal aneuploidies, vascular tumors, and arteriovenous malformations of the fetus or placenta and inherited conditions such as alpha-thalassemia or genetic metabolic disorders. Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery for the diagnosis of fetal anemia and intravascular intrauterine transfusion for its treatment are the current practice standards. Read More

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http://dx.doi.org/10.1016/j.bpobgyn.2019.01.001DOI Listing
January 2019
4 Reads

α-Lipoic Acid Reduces Iron-induced Toxicity and Oxidative Stress in a Model of Iron Overload.

Int J Mol Sci 2019 Jan 31;20(3). Epub 2019 Jan 31.

Department of Medical, Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, 95123 Catania, Italy.

Iron toxicity is associated with organ injury and has been reported in various clinical conditions, such as hemochromatosis, thalassemia major, and myelodysplastic syndromes. Therefore, iron chelation therapy represents a pivotal therapy for these patients during their lifetime. The aim of the present study was to assess the iron chelating properties of α-lipoic acid (ALA) and how such an effect impacts on iron overload mediated toxicity. Read More

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http://dx.doi.org/10.3390/ijms20030609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387298PMC
January 2019
3 Reads
2.862 Impact Factor

Can Couples With MCV≥80, MCH<26, HbA2<3.2, HbF<3 be Classified as Low-risk β-Thalassemia Group?

J Pediatr Hematol Oncol 2019 Jan 22. Epub 2019 Jan 22.

Department of Epidemiology and Biostatistics, School of Public Health, Isfahan University of Medical Sciences, Isfahan.

Background And Aim: Thalassemia screening instructions in Iran categorizes couples with mean corpuscular volume (MCV)=75 to 80, mean corpuscular hemoglobin (MCH)=26 to 27, hemoglobin A2 (HbA2)<3.5, and hemoglobin fetal (HbF)<3 indices as low-risk couples, and therefore further genetic testing is not obligatory. This study examined the possibility of classifying couples with MCH<26 and MCV≥80 indices in the low-risk group when their HbF was <3 and HbA2 was <3. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001423DOI Listing
January 2019
6 Reads

First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene.

Hemoglobin 2018 Sep - Nov;42(5-6):344-346. Epub 2019 Jan 24.

c Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.

In this report, we describe a prenatal case with cardiomegaly and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 22 weeks' gestation. Fetal blood sampling revealed moderate anemia (Hb 7.4 g/dL) and increased Hb Bart's (γ4) level (28. Read More

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http://dx.doi.org/10.1080/03630269.2018.1556684DOI Listing
January 2019
1 Read

Severe hemolytic anemia due to combined α thalassemia and de novo Hemoglobin Sabine.

Ann Hematol 2019 Mar 23;98(3):783-785. Epub 2019 Jan 23.

Department of Central Laboratory, Key Laboratory of Cellular and Molecular Genetic Transformation of Hainan Province Medicine, Hainan Province People's Hospital, Haikou, 570311, Hainan Province, China.

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http://dx.doi.org/10.1007/s00277-019-03617-xDOI Listing
March 2019
4 Reads

The Use of HPLC as a Tool for Neonatal Cord Blood Screening of haemoglobinopathy: A Validation Study.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019005. Epub 2019 Jan 1.

Department of Haematology, Sultan Qaboos University Hospital, Oman.

Background: Newborn cord blood screening identifies infants with underlying haemoglobinopathies before they develop the characteristic symptoms or sequelae.

Aims: This study was performed to validate the interpretation high-performance chromatography (HPLC) along with complete blood count (CBC) results as a tool for universal neonatal screening of hemoglobin disorders in Oman.

Methods: HPLC and CBC data on subjects who participated in the National Neonatal screening program at birth were obtained from archival records. Read More

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http://dx.doi.org/10.4084/MJHID.2019.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328035PMC
January 2019
4 Reads

Investigation of Pediatric Anemia in the Commonwealth of the Northern Mariana Islands.

Matern Child Health J 2019 Mar;23(3):416-421

Regional Epidemiology Unit, Pacific Island Health Officers Association, Honolulu, HI, USA.

Objective To report on the prevalence and etiology of pediatric anemia in the Commonwealth of the Northern Mariana Islands (CNMI). Method A retrospective chart review was conducted that included patients up to 19 years of age who presented for well child care and whose hemoglobin or hematocrit was checked in the CNMI from 2014 to 2015. Lab values, diagnoses and treatment plans, patient reported ethnicity, and follow-up results were collected from eligible patients. Read More

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http://link.springer.com/10.1007/s10995-018-02713-0
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http://dx.doi.org/10.1007/s10995-018-02713-0DOI Listing
March 2019
19 Reads