Works matching DE "GENETICS of thalassemia"

Results: 115

Lethal beta-thalassaemia in mice lacking the erythroid CACC-transcription factor EKLF.

Published in:

Nature, 1995, v. 375, n. 6529, p. 318, doi. 10.1038/375318a0

By:

Perkins, Andrew C.;
Sharpe, Arlene H.

Publication type:

Article

Co-inheritance of compound heterozygous Hb Constant Spring and a single --α3.7 gene deletion with heterozygous δβ thalassaemia: A diagnostic challenge.

Published in:

Malaysian Journal of Pathology, 2012, v. 34, n. 1, p. 57

By:

Azma, Raja Zahratul;
Othman, Ainoon;
Azman, Norazlina;
Alauddin, Hafiza;
Ithnin, Azlin;
Yusof, Nurasyikin;
Razak, Noor Farisah;
Sardi, Nor Hidayati;
Hussin, Noor Hamidah

Publication type:

Article

Anemia in pregnancy: Think beyond iron deficiency.

Published in:

Indian Journal of Medical Specialities, 2019, v. 10, n. 2, p. 111, doi. 10.4103/INJMS.INJMS_13_19

By:

Memon, Faisal;
Londhey, Vikram;
Nagara, Raju

Publication type:

Article

NOTICE BOARD.

Published in:: 2014
Publication type:: Journal Article

β-Thalassaemia and its Co-existence with Haemoglobin E and Haemoglobin S in Upper Assam Region of North Eastern India: A Hospital Based Study.

Published in:

Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 4, p. 1, doi. 10.7860/JCDR/2016/16265.7675

By:

TELI, ANJU BARHAI;
DEORI, RUMI;
SAIKIA, SIDHARTHA PROTIM;
HAK, KALYANI PAT;
PANYANG, RITA;
RAJKAKATI, RASHMI

Publication type:

Article

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.

Published in:: 1995
Publication type:: Abstract

Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and ...-thalassaemia trait:...

Published in:

JAMA: Journal of the American Medical Association, 1994, v. 271, n. 16, p. 1224f

By:

del Giudice, Emanuele Miragl;
Smith, Jeanette M.

Publication type:

Article

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand.

Published in:

Acta Haematologica, 2016, v. 136, n. 4, p. 233, doi. 10.1159/000449120

By:

Yamsri, Supawadee;
Pakdee, Naruwat;
Fucharoen, Goonnapa;
Sanchaisuriya, Kanokwan;
Fucharoen, Supan

Publication type:

Article

Nondeletional α-Thalassemia (α2- IVS-1-116, A>G HBA2): An α2 Gene Point Mutation Detected in an African-American Female for the First Time.

Published in:

Acta Haematologica, 2014, v. 132, n. 1, p. 22, doi. 10.1159/000355426

By:

Dainer, Paul;
Patel, Niren;
Zhuang, Lina;
Carmichael, Harris;
Kutlar, Ferdane

Publication type:

Article

Determination of mitogen-triggered proliferation responses of thalassemia major patients treated with bone marrow transplantation.

Published in:

Turkish Journal of Immunology, 2016, v. 4, p. 74

By:

Kucuksezer, Umut Can;
Tahrali, Ilhan;
Deniz, Gunnur;
Nepesov, Serdar;
Camcioglu, Yildiz;
Yesilipek, Akif

Publication type:

Article

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/687635

By:

Breveglieri, Giulia;
Mancini, Irene;
Bianchi, Nicoletta;
Lampronti, Ilaria;
Salvatori, Francesca;
Fabbri, Enrica;
Zuccato, Cristina;
Cosenza, Lucia C.;
Montagner, Giulia;
Borgatti, Monica;
Altruda, Fiorella;
Fagoonee, Sharmila;
Carandina, Gianni;
Rubini, Michele;
Aiello, Vincenzo;
Breda, Laura;
Rivella, Stefano;
Gambari, Roberto;
Finotti, Alessia

Publication type:

Article

Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/517679

By:

Farra, Chantal;
Daher, Rose;
Badra, Rebecca;
el Rafei, Rym;
Bejjany, Rachelle;
Charafeddine, Lama;
Yunis, Khalid

Publication type:

Article

Case Study: Artifactually Low Hemoglobin A[sub lc] in a Patient with High Hemoglobin F.

Published in:

2000

By:

Sabath, Daniel E.

Publication type:

Case Study

The main non clinical risk factors of major thalassemia in Fars province.

Published in:

Scientific Journal of Iranian Blood Transfusion Organization, 2011, v. 8, n. 3, p. 1

By:

Faramarzi, H.;
Bagheri, P.;
Rahimi, N.

Publication type:

Article

A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.

Published in:

2017

By:

Surapolchai, Pacharapan;
Chuansumrit, Ampaiwan;
Sirachainan, Nongnuch;
Kadegasem, Praguywan;
Leung, Ka-Chun;
So, Chi-Chiu

Publication type:

journal article

Molecular mechanism of β-thalassaemia caused by 22-bp duplication.

Published in:

Annals of Hematology, 2008, v. 87, n. 8, p. 633, doi. 10.1007/s00277-008-0479-7

By:

Svasti, Saovaros;
Boonchoy, Chanikarn;
Vanichsetakul, Preeda;
Winichagoon, Pranee;
Fucharoen, Suthat

Publication type:

Article

Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.

Published in:

Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 7, p. 797, doi. 10.5858/arpa.2022-0168-OA

By:

Renliang Huang;
Yinyin Liu;
Jing Xu;
Dan Lin;
Aiping Mao;
Liuqing Yang;
Gaobu Zhong;
Huoniao Wang;
Ruofan Xu;
Yiwei Chen;
Qiaomiao Zhou

Publication type:

Article

Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.

Published in:

Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 3, p. 336, doi. 10.5858/arpa.2022-0299-OA

By:

Zhen Xu;
Lanping Hu;
Yinyin Liu;
Can Peng;
Guo Zeng;
Li Zeng;
Mengyue Yang;
Siyuan Linpeng;
Xiufen Bu;
Xuanyu Jiang;
Tiantian Xie;
Libao Chen;
Shihao Zhou;
Jun He

Publication type:

Article

High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group.

Published in:

Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/706872

By:

Tan, Jin-Ai Mary Anne;
Ping-Chin Lee;
Yong-Chui Wee;
Kim-Lian Tan;
Mahali, Noor Fadzlin;
George, Elizabeth;
Kek-Heng Chua

Publication type:

Article

Molecular genetics of beta-thalassaemia syndrome in Pakistan.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 9, p. 972, doi. 10.26719/2010.16.9.972

By:

Usman, M.;
Moinuddin, M.;
Ghani, R.

Publication type:

Article

Hypermethylation of the gene LARP2 for noninvasive prenatal diagnosis of β-thalassemia based on DNA methylation profile.

Published in:

Molecular Biology Reports, 2012, v. 39, n. 6, p. 6591, doi. 10.1007/s11033-012-1489-z

By:

Gao, Tian;
Nie, Yanli;
Guo, Jianxin

Publication type:

Article

Association of genetic variations in the mitochondrial D-loop with β-thalassemia.

Published in:

Mitochondrial DNA. Part A, 2016, v. 27, n. 3, p. 1693, doi. 10.3109/19401736.2014.958730

By:

Jamali, Leila;
Banoei, Mohammad Mehdi;
Khalili, Elham;
Dadgar, Sepideh;
Houshmand, Massoud

Publication type:

Article

Use of HbA estimation by CE-HPLC for prenatal diagnosis of β-thalassemia; experience from a tertiary care centre in north India: a brief report.

Published in:

Hematology, 2009, v. 14, n. 2, p. 122, doi. 10.1179/102453309X385269

By:

Rao, Seema;
Saxena, Renu;
Deka, Deepika;
Kabra, Madhulika

Publication type:

Article

Effectiveness of Awareness Programme on Knowledge of Thalassemia among Adolescent Students and their Motivation to Screen the Status as Thalassemic Carrier in a Selected School, Howrah, West Bengal.

Published in:

International Journal of Nursing Education, 2018, v. 10, n. 2, p. 110, doi. 10.5958/0974-9357.2018.00053.3

By:

Mondal, Sampa;
Mani, Smriti kana

Publication type:

Article

Prevalence of Thalassemia in Reproductive Age Group Females in Central Gujarat- Literature Review.

Published in:

International Journal of Nursing Education, 2017, v. 9, n. 2, p. 71, doi. 10.5958/0974-9357.2017.00039.3

By:

Sharma, Anil;
Vageriya, Vipin

Publication type:

Article

Clinical and hematological features of β+-thalassemia (IVS-1 nt 5, G-C mutation) in Thai patients.

Published in:

European Journal of Haematology, 2001, v. 67, n. 2, p. 100, doi. 10.1034/j.1600-0609.2001.t01-1-00431.x

By:

Laosombat, Vichai;
Wongchanchailert, Malai;
Sattayasevana, Benjamas;
Wiriyasateinkul, Aranya;
Fucharoen, Supan

Publication type:

Article

β0 ‐Thalassemia resulting from a novel mutation: β66/u→stop codon.

Published in:

European Journal of Haematology, 2000, v. 64, n. 1, p. 71

By:

Grignoli, C.R.E.;
Carvalho, M.H.;
Kimura, E.M.;
Sonati, M.F.;
Arruda, V.R.;
Saad, S.T.O.;
Costa, F.F.

Publication type:

Article

Thalassemia: the long road from the bedside through the laboratory to the community.

Published in:

Nature Medicine, 2010, v. 16, n. 10, p. 1112, doi. 10.1038/nm1010-1112

By:

Weatherall, David

Publication type:

Article

The Contribution of Extramedullary Hematopoiesis to Hepatomegaly in Anemic Hydrops Fetalis: A Study in Alpha-Thalassemia Hydrops Fetalis.

Published in:

Pediatric & Developmental Pathology, 2012, v. 15, n. 3, p. 206, doi. 10.2350/11-12-1126-OA.1

By:

Taweevisit, Mana;
Thorner, Paul S.

Publication type:

Article

Geneticization: The Cyprus Paradigm.

Published in:

Journal of Medicine & Philosophy, 1998, v. 23, n. 3, p. 274

By:

Hoedemaekers, Rogeer;
ten Have, Henk

Publication type:

Article

Beta-Globin Gene Haplotypes and alpha-Thalassemia Analysis in Babinga Pygmies from...

Published in:

Human Biology, 2000, v. 72, n. 2, p. 379

By:

Mouele, Rene;
Bodo, Jean-Marie

Publication type:

Article

Identification of the Chinese IVS-II-654 (C...T) beta-Thalassemia mutation in an immigrant...

Published in:

Human Biology, 1999, v. 71, n. 2, p. 295

By:

Tadmouri, Ghazi Omar;
Bilenoglu, Onur

Publication type:

Article

Anthropological approach to the heterogeneity of beta-thalassemia mutations in Northern Africa.

Published in:

Human Biology, 1994, v. 66, n. 3, p. 369

By:

Bennani, C.;
Bouhass, R.

Publication type:

Article

Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of women's experiences and expectations of participation.

Published in:

Health Expectations, 2012, v. 15, n. 2, p. 115, doi. 10.1111/j.1369-7625.2011.00669.x

By:

Tsianakas, Vicki;
Atkin, Karl;
Calnan, Michael W.;
Dormandy, Elizabeth;
Marteau, Theresa M.

Publication type:

Article

THALASSEMIA IN 'NON--MEDITERRANEAN' FAMILIES.

Published in:

Annals of Internal Medicine, 1960, v. 53, n. 3, p. 510, doi. 10.7326/0003-4819-53-3-510

By:

McFarland, William;
Pearson, Howard A.

Publication type:

Article

Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review.

Published in:

Public Health Genomics, 2015, v. 18, n. 4, p. 193, doi. 10.1159/000430837

By:

Saffi, Marwa;
Howard, Natasha

Publication type:

Article

Transfusion-Dependent Thalassemia in Northern Sarawak: A Molecular Study to Identify Different Genotypes in the Multi-Ethnic Groups and the Importance of Genomic Sequencing in Unstudied Populations.

Published in:

Public Health Genomics, 2015, v. 18, n. 1, p. 60, doi. 10.1159/000368342

By:

Tan, Jin-ai M.a.;
Chin, Saw-Sian;
Ong, Gek-Bee;
Mohamed Unni, Mohamed N.;
Soosay, ashley E.R.;
Gudum, Henry R.;
Kho, Siew-Leng;
Chua, Kek-Heng;
Chen, Jang J.;
George, Elizabeth

Publication type:

Article

Compound heterozygosity for hemoglobin E-Saskatoon and β-thalassemia.

Published in:

Journal of Obstetrics & Gynaecology Research, 2010, v. 36, n. 5, p. 1148, doi. 10.1111/j.1447-0756.2010.01343.x

By:

Theodoridou, Stamatia;
Vyzantiadis, Timoleon;
Theodoridis, Theodore

Publication type:

Article

Development of K562 cell clones expressing β-globin mRNA carrying the β039 thalassaemia mutation for the screening of correctors of stop-codon mutations.

Published in:

Biotechnology & Applied Biochemistry, 2009, v. 54, n. 1, p. 41, doi. 10.1042/BA20080266

By:

Francesca Salvatori;
Vera Cantale;
Giulia Breveglieri;
Cristina Zuccato;
Alessia Finotti;
Nicoletta Bianchi;
Monica Borgatti;
Giordana Feriotto;
Federica Destro;
Alessandro Canella;
Laura Breda;
Stefano Rivella

Publication type:

Article

Genetic risk assessment and haemoglobinopathy counselling: two case studies.

Published in:

British Journal of Midwifery, 2019, v. 27, n. 12, p. 790, doi. 10.12968/bjom.2019.27.12.790

By:

Bennett-Day, Sarah

Publication type:

Article

β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/-28 A → C.

Published in:

2009

By:

Gamarra, Soledad;
Garcia-Effron, Guillermo;
Monteserin, Carmen;
Lopez-Villar, Isabel;
Gilsanz, Florinda;
Martinez-Lopez, Joaquín

Publication type:

Case Study

β‐thalassemia intermedia mimicking β‐thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.

Published in:

2023

By:

Singh, Namrata;
Hira, Jasbir Kaur;
Chhabra, Sanjeev;
Das, Reena;
Khadwal, Alka Rani;
Sharma, Prashant

Publication type:

Letter to the Editor

The role of molecular diagnostic testing for hemoglobinopathies and thalassemias.

Published in:

International Journal of Laboratory Hematology, 2023, v. 45, p. 71, doi. 10.1111/ijlh.14089

By:

Sabath, Daniel E.

Publication type:

Article

Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.

Published in:

International Journal of Laboratory Hematology, 2023, v. 45, n. 1, p. 104, doi. 10.1111/ijlh.13965

By:

Zhou, Chaofan;
He, Sheng;
Liu, Dun;
Zuo, Yangjin;
Chen, Qiuli;
Wang, Liang;
Chen, Biyan;
Chen, Faqin;
Luo, Jingsi;
Xu, Xiangmin;
Lin, Li

Publication type:

Article

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.

Published in:

International Journal of Laboratory Hematology, 2022, v. 44, n. 1, p. 223, doi. 10.1111/ijlh.13687

By:

Zou, Jie;
Huang, Shuodan;
Xi, Hui;
Huang, Cidan;
Zou, Lin;
Qiu, Li;
Nie, Xinghui;
Zhou, Jin;
Zhuang, Yuchang;
Chen, Yajun;
Xie, Longxu;
Liu, Nansong;
Lin, Jiafu

Publication type:

Article

Development of a genomic DNA reference material panel for thalassemia genetic testing.

Published in:

International Journal of Laboratory Hematology, 2020, v. 42, n. 5, p. 510, doi. 10.1111/ijlh.13213

By:

Yin, Zhenzhen;
Qu, Shoufang;
Huang, Chuanfeng;
Chen, Fang;
Li, Jianbiao;
Chen, Shiping;
Ye, Jingyu;
Yang, Ying;
Zheng, Yu;
Zhang, Xi;
Yang, Xuexi;
Xie, Longxu;
Wei, Jitao;
Wei, Fengxiang;
Guo, Jian;
Huang, Jie

Publication type:

Article

Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia.

Published in:

International Journal of Laboratory Hematology, 2019, v. 41, n. 4, p. 513, doi. 10.1111/ijlh.13035

By:

Singha, Kritsada;
Taweenan, Wachiraporn;
Fucharoen, Goonnapa;
Fucharoen, Supan

Publication type:

Article

Complex interactions between thalassemia defective alleles compromise screening and cause severe anemia in a Chinese family.

Published in:

International Journal of Laboratory Hematology, 2018, v. 40, n. 3, p. e55, doi. 10.1111/ijlh.12811

By:

Liu, S.;
Huang, L.‐Y.;
Jiang, F.;
Sun, X.‐F.;
Li, D.‐Z.

Publication type:

Article

A novel α0-thalassemia deletion in a Brazilian child with Hb H disease [--(Braz)].

Published in:

International Journal of Laboratory Hematology, 2017, v. 39, n. 4, p. e106, doi. 10.1111/ijlh.12646

By:

Mota, N. O.;
Kimura, E. M.;
Ferreira, R. D.;
Albuquerque, D. M.;
Ribeiro, D. M.;
Santos, M. N. N.;
Costa, F. F.;
Sonati, M. F.

Publication type:

Article

Molecular understanding of Indian untransfused thalassemia intermedia.

Published in:

International Journal of Laboratory Hematology, 2015, v. 37, n. 6, p. 791, doi. 10.1111/ijlh.12407

By:

Nadkarni, A.;
Dabke, P.;
Colah, R.;
Ghosh, K.

Publication type:

Article