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Wyszukujesz frazę ""alpha-Thalassemia"" wg kryterium: Temat


Tytuł :
Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene.
Autorzy :
Ropero P; Servicio de Hematología, Hospital Clínico San Carlos Madrid, Spain; Instituto de Investigación Sanitaria Hospital Clínico San Carlos Madrid, Spain. Electronic address: .
M Nieto J; Servicio de Hematología, Hospital Clínico San Carlos Madrid, Spain; Instituto de Investigación Sanitaria Hospital Clínico San Carlos Madrid, Spain.
González Fernández FA; Servicio de Hematología, Hospital Clínico San Carlos Madrid, Spain.
Villegas A; Servicio de Hematología, Hospital Clínico San Carlos Madrid, Spain.
Benavente C; Servicio de Hematología, Hospital Clínico San Carlos Madrid, Spain.
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Źródło :
Clinical biochemistry [Clin Biochem] 2021 Jun; Vol. 92, pp. 77-81. Date of Electronic Publication: 2021 Mar 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
Hemoglobins, Abnormal/*genetics
alpha-Globins/*genetics
Adult ; Humans ; Male ; Point Mutation ; Proline/genetics ; Spain
Czasopismo naukowe
Tytuł :
Prevalence and genetic analysis of thalassemia in neonates in Wuhan area: a national megacity in central China.
Autorzy :
Cai W; Eugenic Genetics Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
Xiong Q; Eugenic Genetics Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
Tong J; Center of Reproduction Medicine, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
Dai X; Eugenic Genetics Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
Zhou B; Eugenic Genetics Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
Shen S; Eugenic Genetics Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
Hu X; Eugenic Genetics Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
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Źródło :
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2021 Jul; Vol. 34 (14), pp. 2240-2247. Date of Electronic Publication: 2019 Sep 11.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/epidemiology
alpha-Thalassemia*/genetics
beta-Thalassemia*/genetics
China/epidemiology ; Female ; Genetic Testing ; Genotype ; Humans ; Infant, Newborn ; Mutation ; Pregnancy ; Prevalence
Czasopismo naukowe
Tytuł :
[Genetic Diagnosis of Thalassemia in Baise, Guangxi Zhuang Autonomous Region].
Autorzy :
Lu H; Genetic Laboratory of Baise Maternal and Child Health Hospital;Baise 533000, Guangxi Zhuang Autonomous Region, China.
Qin Q; Genetic Laboratory of Baise Maternal and Child Health Hospital;Baise 533000, Guangxi Zhuang Autonomous Region, China.
Li JH; Genetic Laboratory of Baise Maternal and Child Health Hospital;Baise 533000, Guangxi Zhuang Autonomous Region, China.
Chen T; Genetic Laboratory of Baise Maternal and Child Health Hospital;Baise 533000, Guangxi Zhuang Autonomous Region, China.
Liang SJ; Genetic Laboratory of Baise Maternal and Child Health Hospital;Baise 533000, Guangxi Zhuang Autonomous Region, China.
Lu XS; Genetic Laboratory of Baise Maternal and Child Health Hospital;Baise 533000, Guangxi Zhuang Autonomous Region, China,E-mail: .
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Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Jun; Vol. 29 (3), pp. 865-868.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/epidemiology
alpha-Thalassemia*/genetics
beta-Thalassemia*/diagnosis
beta-Thalassemia*/genetics
Child ; China ; Female ; Genotype ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
[Analysis of Gene Deficiency Types of Thalassemia in Lingui District of Guilin City].
Autorzy :
Xiang XH; Department of Laboratorial Medicine, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Leng J; Department of Laboratorial Medicine, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Wang D; Department of Laboratorial Medicine, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Mo LJ; Department of Laboratorial Medicine, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Jiang W; Department of Laboratorial Medicine, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Wei CD; Department of Laboratorial Medicine, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China,E-mail: .
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Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Jun; Vol. 29 (3), pp. 860-864.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/epidemiology
alpha-Thalassemia*/genetics
beta-Thalassemia*/epidemiology
beta-Thalassemia*/genetics
China/epidemiology ; Female ; Genotype ; Heterozygote ; Humans ; Mutation ; Pregnancy
Czasopismo naukowe
Tytuł :
Co-Inheritance of α-thalassemia gene mutation in patients with sickle cell Disease: Impact on clinical and hematological variables.
Autorzy :
Ali Al-Barazanchi ZA; Laboratory Department, Basra Children Specialty Hospital, Basra, Iraq.
Abdulateef SS; Pathology and Forensic Medicine Department, Al-Nahrain Medical College, Baghdad, Iraq.
Hassan MK; Department of Pediatrics, College of Medicine, University of Basra, Basra, Iraq.
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Źródło :
Nigerian journal of clinical practice [Niger J Clin Pract] 2021 Jun; Vol. 24 (6), pp. 874-882.
Typ publikacji :
Journal Article
MeSH Terms :
Anemia, Sickle Cell*/epidemiology
Anemia, Sickle Cell*/genetics
alpha-Thalassemia*/epidemiology
alpha-Thalassemia*/genetics
Cross-Sectional Studies ; Erythrocyte Indices ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Loss of alpha globin genes is associated with improved microvascular function in patients with sickle cell anemia.
Autorzy :
Romana M; Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.; Université des Antilles, UMR_S1134, BIGR Inserm, Pointe-à-Pitre, France.; Université de Paris, UMR_S1134, BIGR, INSERM, Paris, France.
Reminy K; EA 3596 'ACTES': Adaptation, Climat Tropical, Exercice et Santé, Université des Antilles, Pointe-à-Pitre, France.
Moeckesch B; EA 3596 'ACTES': Adaptation, Climat Tropical, Exercice et Santé, Université des Antilles, Pointe-à-Pitre, France.
Charlot K; Unité de Physiologie des Exercices et Activités en Conditions Extrêmes, Département Environnements Opérationnels, Institut de Recherche Biomédicale des Armées, Bretigny-Sur-Orge, France.
Hardy-Dessources MD; Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.; Université des Antilles, UMR_S1134, BIGR Inserm, Pointe-à-Pitre, France.; Université de Paris, UMR_S1134, BIGR, INSERM, Paris, France.
Doumdo L; Unité Transversale de la Drépanocytose, CHU de la Guadeloupe, Pointe-à-Pitre, France.
Tressieres B; Centre d'Investigation Clinique Antilles Guyane, Inserm CIC 1424, Pointe-à-Pitre, France.
Etienne-Julan M; Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.; Université des Antilles, UMR_S1134, BIGR Inserm, Pointe-à-Pitre, France.; Université de Paris, UMR_S1134, BIGR, INSERM, Paris, France.; Unité Transversale de la Drépanocytose, CHU de la Guadeloupe, Pointe-à-Pitre, France.
Lemonne N; Unité Transversale de la Drépanocytose, CHU de la Guadeloupe, Pointe-à-Pitre, France.
Denton C; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California, USA.
Coates T; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California, USA.
Petras M; Unité Transversale de la Drépanocytose, CHU de la Guadeloupe, Pointe-à-Pitre, France.
Antoine-Jonville S; EA 3596 'ACTES': Adaptation, Climat Tropical, Exercice et Santé, Université des Antilles, Pointe-à-Pitre, France.; Université d'Avignon, LAPEC EA4278, Avignon, France.
Connes P; Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.; Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Université Lyon 1 (COMUE Lyon), Equipe « Biologie Vasculaire et du Globule Rouge », Lyon, France.
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Źródło :
American journal of hematology [Am J Hematol] 2021 May 01; Vol. 96 (5), pp. E165-E168. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji :
Letter
MeSH Terms :
Gene Deletion*
Anemia, Sickle Cell/*genetics
Microcirculation/*genetics
alpha-Globins/*deficiency
alpha-Thalassemia/*genetics
Adolescent ; Adult ; Anemia, Sickle Cell/blood ; Anemia, Sickle Cell/complications ; Anemia, Sickle Cell/physiopathology ; Blood Flow Velocity ; Blood Pressure ; Body Mass Index ; Child ; Erythrocyte Indices ; Female ; Fingers/blood supply ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Nitric Oxide/physiology ; Vasodilation ; Young Adult ; alpha-Globins/genetics ; alpha-Thalassemia/blood ; alpha-Thalassemia/complications ; alpha-Thalassemia/physiopathology
Opinia redakcyjna
Tytuł :
β-Thalassemias.
Autorzy :
Georgalas I; National and Kapodistrian University of Athens, Athens, Greece .
Petrou P; National and Kapodistrian University of Athens, Athens, Greece .
Kanakis M; University of Patras, Patras, Greece.
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Źródło :
The New England journal of medicine [N Engl J Med] 2021 Jun 03; Vol. 384 (22), pp. 2165-2166.
Typ publikacji :
Letter; Comment
MeSH Terms :
alpha-Thalassemia*
beta-Thalassemia*/diagnosis
beta-Thalassemia*/therapy
Female ; Humans ; Pregnancy ; Prenatal Diagnosis
Opinia redakcyjna
Tytuł :
β-Thalassemias.
Autorzy :
Thong MK; University of Malaya Medical Center, Kuala Lumpur, Malaysia .
Ngim CF; Monash University Malaysia, Johor Bahru, Malaysia.
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Źródło :
The New England journal of medicine [N Engl J Med] 2021 Jun 03; Vol. 384 (22), pp. 2165.
Typ publikacji :
Letter; Comment
MeSH Terms :
alpha-Thalassemia*
beta-Thalassemia*/diagnosis
beta-Thalassemia*/therapy
Female ; Humans ; Pregnancy ; Prenatal Diagnosis
Opinia redakcyjna
Tytuł :
β-Thalassemias. Reply.
Autorzy :
Taher AT; American University of Beirut Medical Center, Beirut, Lebanon .
Musallam KM; International Network of Hematology, London, United Kingdom.
Cappellini MD; University of Milan, Milan, Italy.
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Źródło :
The New England journal of medicine [N Engl J Med] 2021 Jun 03; Vol. 384 (22), pp. 2166.
Typ publikacji :
Letter; Comment
MeSH Terms :
alpha-Thalassemia*
beta-Thalassemia*/therapy
Humans
Opinia redakcyjna
Tytuł :
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Autorzy :
Arpaci A; Department of Molecular Biochemistry and Genetics, Mustafa Kemal University Faculty of Medicine, Alahan, Tayfur Sokmen Campus, 31001, Antakya/Hatay, Turkey. .
Gul BU; Department of Medical Biochemistry, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
Ozcan O; Department of Medical Biochemistry, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
Ilhan G; Internal Medicine and Hematology, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
El C; Department of Pediatrics, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
Dirican E; Department of Biostatistics and Medical Informatics, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
Elmacioglu S; Central Laboratory, Medical Genetic Unit, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
Kaya H; Internal Medicine and Hematology, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.
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Źródło :
Annals of hematology [Ann Hematol] 2021 Jun; Vol. 100 (6), pp. 1429-1438. Date of Electronic Publication: 2021 Apr 13.
Typ publikacji :
Journal Article
MeSH Terms :
Polymorphism, Single Nucleotide*
alpha-Thalassemia/*genetics
beta-Globins/*genetics
beta-Thalassemia/*genetics
3' Untranslated Regions ; Adolescent ; Adult ; Female ; Humans ; Male ; Mediterranean Region/epidemiology ; Mutation ; Mutation Rate ; Point Mutation ; Retrospective Studies ; Turkey/epidemiology ; Young Adult ; alpha-Thalassemia/epidemiology ; beta-Thalassemia/epidemiology
Czasopismo naukowe
Tytuł :
Influence of UGT1A1 promoter polymorphism, α-thalassemia and β haplotype in bilirubin levels and cholelithiasis in a large sickle cell anemia cohort.
Autorzy :
Batista JVGF; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Arcanjo GS; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Batista THC; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Sobreira MJ; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Santana RM; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Domingos IF; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.; Department of Clinical and Toxicological Analyses, Federal University of Rio Grande do Norte, Natal, Brazil.
Hatzlhofer BL; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.; Department of Pharmaceutical Sciences, Health Sciences Centre, Federal University of Pernambuco, Recife, Brazil.
Falcão DA; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Pereira-Martins DA; Department of Internal Medicine, Medical School of Ribeirao Preto, University of São Paulo, Ribeirão Preto, Brazil.
Oliveira JM; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Araujo AS; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Laranjeira LPM; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Medeiros FS; Aggeu Magalhães Institute/Oswaldo Cruz Foundation, Recife, Brazil.
Albuquerque FP; Hematology and Hemotherapy Center, University of Campinas, Campinas, Brazil.
Albuquerque DM; Hematology and Hemotherapy Center, University of Campinas, Campinas, Brazil.
Santos MN; Hematology and Hemotherapy Center, University of Campinas, Campinas, Brazil.
Hazin MF; Department of Internal Medicine, Hematology and Hemotherapy Foundation of Pernambuco, Recife, Brazil.
Dos Anjos AC; Department of Internal Medicine, Hematology and Hemotherapy Foundation of Pernambuco, Recife, Brazil.
Costa FF; Hematology and Hemotherapy Center, University of Campinas, Campinas, Brazil.
Araujo AS; Department of Internal Medicine, Hematology and Hemotherapy Foundation of Pernambuco, Recife, Brazil.
Lucena-Araujo AR; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Bezerra MA; Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil. .
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Źródło :
Annals of hematology [Ann Hematol] 2021 Apr; Vol. 100 (4), pp. 903-911. Date of Electronic Publication: 2021 Feb 01.
Typ publikacji :
Journal Article
MeSH Terms :
Anemia, Sickle Cell/*blood
Bilirubin/*blood
Cholelithiasis/*etiology
Gilbert Disease/*blood
Glucuronosyltransferase/*physiology
Promoter Regions, Genetic/*genetics
alpha-Thalassemia/*blood
Adolescent ; Adult ; Aged ; Alleles ; Anemia, Sickle Cell/complications ; Anemia, Sickle Cell/enzymology ; Anemia, Sickle Cell/genetics ; Child ; Child, Preschool ; Cholelithiasis/blood ; Cholelithiasis/genetics ; Female ; Fetal Hemoglobin/analysis ; Genotype ; Gilbert Disease/enzymology ; Gilbert Disease/genetics ; Glucuronosyltransferase/genetics ; Haplotypes/genetics ; Hemolysis ; Humans ; Hyperbilirubinemia/enzymology ; Hyperbilirubinemia/etiology ; Hyperbilirubinemia/genetics ; Male ; Middle Aged ; Young Adult ; alpha-Thalassemia/complications ; alpha-Thalassemia/enzymology ; alpha-Thalassemia/genetics
Czasopismo naukowe
Tytuł :
Utilization of Discriminant Formulas in the Differentiation of Alpha Thalassemia, Beta Thalassemia, and Iron Deficiency in Premarital Setting.
Autorzy :
Saboor M
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Źródło :
Clinical laboratory [Clin Lab] 2021 Apr 01; Vol. 67 (4).
Typ publikacji :
Journal Article
MeSH Terms :
Anemia, Hypochromic*
Anemia, Iron-Deficiency*/diagnosis
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
beta-Thalassemia*/diagnosis
Diagnosis, Differential ; Erythrocyte Indices ; Female ; Humans ; Iron
Czasopismo naukowe
Tytuł :
Alpha thalassemia, but not β -globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort.
Autorzy :
Hatzlhofer BLD; Department of Pharmaceutical Sciences, Health Sciences Centre, Federal University of Pernambuco, Av. Prof. Arthur de Sá, s/n, Cidade Universitária, Recife, PE, 50740-521, Brazil. .; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil. .
Pereira-Martins DA; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.; Department of Internal Medicine, Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
de Farias Domingos I; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.; Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal, Brazil.
Arcanjo GDS; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Weinhäuser I; Department of Internal Medicine, Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Falcão DA; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Farias ICC; Biological Science Institute and College of Medical Sciences, University of Pernambuco, Recife, Brazil.
de Freitas Batista JVG; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Prado LPL; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Oliveira JMF; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Batista THC; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Sobreira MJVC; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
de Santana RM; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Araújo ABS; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
de Melo MA; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
de Ancântara BV; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Coelho-Silva JL; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.; Department of Medical Images, Hematology and, Clinical Oncology of The University of São Paulo, Ribeirão Preto Medical School, Ribeirão Preto, Brazil.
de Moura Rafael ABL; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
de Lima Silva DM; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Albuquerque FP; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.; Hematology and Hemotherapy Centre, State University of Campinas, Campinas, São Paulo, Brazil.
Santos MNN; Department of Clinical Pathology, School of Medical Sciences, State University of Campinas, Campinas, São Paulo, Brazil.
Dos Anjos AC; Department of Internal Medicine, Hematology and Hemotherapy Foundation of Pernambuco, Recife, Brazil.
Costa FF; Hematology and Hemotherapy Centre, State University of Campinas, Campinas, São Paulo, Brazil.
da Silva Araújo A; Department of Internal Medicine, Hematology and Hemotherapy Foundation of Pernambuco, Recife, Brazil.
Lucena-Araújo AR; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
Bezerra MAC; Genetics Postgraduate Program, Centre of Biosciences, Federal University of Pernambuco, Recife, Brazil.
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Źródło :
Annals of hematology [Ann Hematol] 2021 Apr; Vol. 100 (4), pp. 921-931. Date of Electronic Publication: 2021 Feb 13.
Typ publikacji :
Journal Article
MeSH Terms :
Anemia, Sickle Cell/*complications
alpha-Thalassemia/*complications
beta-Globins/*genetics
Adolescent ; Adult ; Aged ; Anemia, Sickle Cell/blood ; Anemia, Sickle Cell/genetics ; Arterial Occlusive Diseases/epidemiology ; Arterial Occlusive Diseases/etiology ; Brazil/epidemiology ; Child ; Cholelithiasis/epidemiology ; Cholelithiasis/etiology ; Female ; Fetal Hemoglobin/analysis ; Follow-Up Studies ; Haplotypes/genetics ; Hemolysis ; Humans ; Leg Ulcer/epidemiology ; Leg Ulcer/etiology ; Male ; Mutation ; Stroke/epidemiology ; Stroke/etiology ; Treatment Outcome ; Young Adult ; alpha-Thalassemia/blood ; alpha-Thalassemia/genetics
Czasopismo naukowe
Tytuł :
Mutation spectrum and erythrocyte indices characterisation of α-thalassaemia and β-thalassaemia in Sichuan women in China: a thalassaemia screening survey of 42 155 women.
Autorzy :
Li B; Medical Laboratory Department, Sichuan Jinxin Women's and Children's Hospital, Chengdu, China.
Han X; Medical Laboratory Department, Sichuan Jinxin Women's and Children's Hospital, Chengdu, China.
Ma J; Medical Laboratory Department, Sichuan Jinxin Women's and Children's Hospital, Chengdu, China .
Yang D; Medical Laboratory Departement, Sichuan Huaxi Shukang Biological Pharmaceutical Co. Ltd, Chengdu, China.
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Źródło :
Journal of clinical pathology [J Clin Pathol] 2021 Mar; Vol. 74 (3), pp. 182-186. Date of Electronic Publication: 2020 Jul 27.
Typ publikacji :
Journal Article
MeSH Terms :
Hemoglobin E/*genetics
alpha-Thalassemia/*genetics
beta-Thalassemia/*genetics
Adolescent ; Adult ; China/epidemiology ; Erythrocyte Indices ; Female ; Heterozygote ; Humans ; Mass Screening ; Middle Aged ; Mutation ; Young Adult ; alpha-Thalassemia/diagnosis ; alpha-Thalassemia/epidemiology ; beta-Thalassemia/diagnosis ; beta-Thalassemia/epidemiology
Czasopismo naukowe
Tytuł :
[Diagnostic Value of HBA 2 in Different Types of Thalassemia].
Autorzy :
Peng R; Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147,China.
Gu HY; Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147,China.
Qin M; Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147,China.
Zhang HY; Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147,China,E-mail: .
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Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Feb; Vol. 29 (1), pp. 217-220.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
beta-Thalassemia*/diagnosis
Child ; Female ; Hematologic Tests ; Hemoglobin A2/analysis ; Humans ; Mass Screening ; Pregnancy
Czasopismo naukowe
Tytuł :
Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by - and large novel α-globin gene cluster deletions.
Autorzy :
Wang Y; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Xiong Y; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Liu C; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Lu J; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Wang J; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Qin D; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Liu L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Wu J; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Zhao X; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Fang L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Du L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
Yin A; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.; Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China.
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Źródło :
The Journal of international medical research [J Int Med Res] 2021 Feb; Vol. 49 (2), pp. 300060521993642.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
China ; Edema ; Female ; Gene Deletion ; Hemoglobins, Abnormal ; Humans ; Hydrops Fetalis/diagnosis ; Hydrops Fetalis/genetics ; Multigene Family ; Pregnancy ; Prenatal Diagnosis ; alpha-Globins/genetics
Czasopismo naukowe
Tytuł :
[Clinical value of PCR-flow Fluorescence Hybridization in Prenatal Genetic Diagnosis of Thalassemia].
Autorzy :
Liu CL; Department of Laboratory Medicine, The Second Hospital of Yunnan Province/Affiliated Hospital of Yunnan University, Kunming 650021, Yunnan Province, China.
Chen PS; Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China,E-mail: .
He XH; Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China.
Yu XG; Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China.
Huang H; Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China.
Huang B; Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China.
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Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Feb; Vol. 29 (1), pp. 221-227.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
beta-Thalassemia*/diagnosis
beta-Thalassemia*/genetics
China ; Female ; Genotype ; Humans ; Mutation ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
[Analysis of Gene Mutation Types in 141 Cases of α-Thalassemia in Honghe Prefecture, Yunnan Province].
Autorzy :
Zhao HY; Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China.
Ye X; Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China.
Wang HX; Department of Hematology, The First Affiliated Hospital of Dali University, Dali 671000, Yunnan Province, China.
He YF; Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China,E-mail: .
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Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Apr; Vol. 29 (2), pp. 596-620.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/genetics
beta-Thalassemia*
China ; Female ; Genotype ; Heterozygote ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Loss of alpha-globin genes in human subjects is associated with improved nitric oxide-mediated vascular perfusion.
Autorzy :
Denton CC; Division of Hematology/Oncology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Shah P; Division of General Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Suriany S; Division of Cardiology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Liu H; Division of Cardiology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Thuptimdang W; Department of Biomedical Engineering, University of Southern California, Los Angeles, California, USA.
Sunwoo J; Department of Biomedical Engineering, University of Southern California, Los Angeles, California, USA.
Chalacheva P; Department of Biomedical Engineering, University of Southern California, Los Angeles, California, USA.
Veluswamy S; Division of Hematology/Oncology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Kato R; Division of Pulmonology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Wood JC; Division of Cardiology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Detterich JA; Division of Cardiology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Khoo MCK; Department of Biomedical Engineering, University of Southern California, Los Angeles, California, USA.
Coates TD; Division of Hematology/Oncology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
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Źródło :
American journal of hematology [Am J Hematol] 2021 Mar 01; Vol. 96 (3), pp. 277-281. Date of Electronic Publication: 2020 Dec 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Hyperemia/*genetics
Microcirculation/*physiology
Nitric Oxide/*physiology
Vasodilation/*physiology
alpha-Globins/*deficiency
alpha-Thalassemia/*physiopathology
Adolescent ; Adult ; Anthropometry ; Blood Pressure ; Brachial Artery/pathology ; Brachial Artery/physiopathology ; Ethnic Groups/genetics ; Female ; Genotype ; Hemorheology ; Humans ; Hyperemia/physiopathology ; Laser-Doppler Flowmetry ; Male ; Middle Aged ; Young Adult ; alpha-Globins/genetics ; alpha-Thalassemia/genetics
Czasopismo naukowe
Tytuł :
[The Value of Umbilical Cord Blood Erythrocyte Index in the Screening of Neonatal Thalassemia].
Autorzy :
Zhuang CJ; Department of Clinical Laboratory Examination, Boai Hospital of Zhongshan Affiliated with Southern Medical University, Zhongshan 528400, Guangdong Province, China.
Wu XW; Prenatal Diagnosis Center, Boai Hospital of Zhongshan Affiliated with Southern Medical University, Zhongshan 528400, Guangdong Province, China.
Wan ZD; Prenatal Diagnosis Center, Boai Hospital of Zhongshan Affiliated with Southern Medical University, Zhongshan 528400, Guangdong Province, China.
Huang X; Department of Clinical Laboratory Examination, Boai Hospital of Zhongshan Affiliated with Southern Medical University, Zhongshan 528400, Guangdong Province, China,,E-mail:.
Pokaż więcej
Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Feb; Vol. 29 (1), pp. 193-197.
Typ publikacji :
Journal Article
MeSH Terms :
alpha-Thalassemia*/diagnosis
beta-Thalassemia*
Child ; Erythrocyte Indices ; Fetal Blood ; Humans ; Infant, Newborn ; Mass Screening
Czasopismo naukowe

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