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1. Full Text Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
by Borg, Joseph and Papadopoulos, Petros and Georgitsi, Marianthi and Gutiérrez, Laura and Grech, Godfrey and Fanis, Pavlos and Phylactides, Marios and Verkerk, Annemieke J. M. H and van der Spek, Peter J and Scerri, Christian A and Cassar, Wilhelmina and Galdies, Ruth and van Ijcken, Wilfred and Ozgür, Zeliha and Gillemans, Nynke and Hou, Jun and Bugeja, Marisa and Grosveld, Frank G and von Lindern, Marieke and Felice, Alex E and Patrinos, George P and Philipsen, Sjaak
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 9, pp. 801 - 805
Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high levels of fetal hemoglobin (HbF) in adults. Several contributory factors,... 
GAMMA-GLOBIN | DNA | QUANTITATIVE-TRAIT LOCUS | EFFICIENT GENE DELIVERY | CHROMOSOME 6Q23 | IN-VIVO | GENETICS & HEREDITY | LINKAGE ANALYSIS | SICKLE-CELL-DISEASE | KRUPPEL-LIKE FACTOR | BETA-THALASSEMIA | Humans | Cells, Cultured | Genetic Diseases, Inborn - genetics | Gene Expression Regulation, Developmental - genetics | Male | Transcription Factors - genetics | Loss of Heterozygosity - physiology | Transfection | Pedigree | Fetal Hemoglobin - genetics | Adult | Family | Female | Genetic Diseases, Inborn - metabolism | Kruppel-Like Transcription Factors - genetics | Erythropoiesis - genetics | Fetal Hemoglobin - metabolism | Physiological aspects | Glycosylated hemoglobin | Transcription factors | Genetic aspects | Research | Gene expression
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2. Full Text CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes
by Puping Liang Yanwen Xu Xiya Zhang Chenhui Ding Rui Huang Zhen Zhang Jie Lv Xiaowei Xie Yuxi Chen Yujing Li Ying Sun Yaofu Bai Zhou Songyang Wenbin Ma Canquan Zhou Junjiu Huang
蛋白质与细胞：英文版, ISSN 1674-800X, 2015, Volume 6, Issue 5, pp. 363 - 372
Genome editing tools such as the clustered regularly interspaced short palindromic repeat （CRISPR）-associated system （Cas） have been widely used to modify... 
受精卵 | 编辑工具 | 介导 | 模型系统 | 珠蛋白基因 | 基因组 | 人类 | 修复机制 | Biochemistry, general | Human Genetics | human tripronuclear zygotes | CRISPR/Cas9 | gene editing | β-thalassemia | Cell Biology | Life Sciences | Protein Science | Stem Cells | homologous recombination | Developmental Biology | whole-exome sequencing | GENOME AMPLIFICATION | SPECIFICITY | CRISPR-CAS SYSTEM | beta-thalassemia | ONE-STEP GENERATION | CELL BIOLOGY | HUMAN EMBRYOS | CELL CLONES | DNA | MICE | SEQUENCING DATA | CONDITIONAL ALLELES | Zygote | Hemoglobins, Abnormal - genetics | Humans | Blastocyst | CRISPR-Cas Systems | Hemoglobins, Abnormal - metabolism | Genetic research | Genetic engineering | Analysis | Genes | Genomics | Genetically modified organisms | CRISPR | Cas9
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3. Full Text α-thalassaemia
by Harteveld, Cornelis L and Higgs, Douglas R
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2010, Volume 5, Issue 1, pp. 13 - 13
Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from... 
MEDICINE, RESEARCH & EXPERIMENTAL | DEPENDENT PROBE AMPLIFICATION | GLOBIN GENE-CLUSTER | LONG-TERM SURVIVAL | INITIATION CODON MUTATION | GENETICS & HEREDITY | PHENOTYPE-GENOTYPE CORRELATION | MENTAL-RETARDATION SYNDROMES | NONIMMUNE HYDROPS-FETALIS | POLYADENYLATION SIGNAL MUTATION | HEMOGLOBIN-H DISEASE | CHAIN-TERMINATION MUTANT | alpha-Globins - genetics | Gene Deletion | Hemoglobins, Abnormal - genetics | Humans | Hemoglobins, Abnormal - metabolism | alpha-Thalassemia - diagnosis | Mutation | alpha-Thalassemia - epidemiology | alpha-Thalassemia - genetics | alpha-Thalassemia - metabolism | alpha-Globins - metabolism
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4. Full Text Analysis of the population genetic structure of Hb D‐Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation
by Ozturk, Onur and Arikan, Sanem and Atalay, Ayfer and Atalay, Erol O
American Journal of Human Biology, ISSN 1042-0533, 07/2016, Volume 28, Issue 4, pp. 476 - 483
Objective Understanding the genetic origin of the Hb D‐Los Angeles hemoglobin may elucidate population interactions such as movements, migrations, and... 
HUMAN MITOCHONDRIAL-DNA | DIAGNOSIS | ALLELES | D-PUNJAB | DISTANCES | HYPOTHESIS | BIOLOGY | PROVINCE | POLYMORPHISM | BETA-THALASSEMIA | ANTHROPOLOGY | CLUSTER HAPLOTYPES | Genetic Variation | Haplotypes - genetics | Demography | Turkey | Hemoglobins, Abnormal - genetics | Humans | Mutation Rate | Haplotypes | Hemoglobin | Genetic aspects | Research | Gene mutations | Analysis
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5. Full Text Response to: Naming a novel hemoglobin variant
by Bissé, Emmanuel and Wieland, Heinrich
Journal of Chromatography B, ISSN 1570-0232, 02/2014, Volume 947-948, pp. 208 - 208
Male | Hemoglobins, Abnormal - genetics | Humans
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6. Full Text Translation readthrough mitigation
by Arribere, Joshua A and Arribere, Joshua A and Cenik, Elif S and Cenik, Elif S and Jain, Nimit and Jain, Nimit and Hess, Gaelen T and Hess, Gaelen T and Lee, Cameron H and Lee, Cameron H and Bassik, Michael C and Bassik, Michael C and Fire, Andrew Z and Fire, Andrew Z
Nature, ISSN 0028-0836, 2016, Volume 534, Issue 7609, pp. 719 - 723
A fraction of ribosomes engaged in translation will fail to terminate when reaching a stop codon, yielding nascent proteins inappropriately extended on their C... 
STOP CODON READTHROUGH | MESSENGER-RNAS | TRANSFER-RNA GENES | MULTIDISCIPLINARY SCIENCES | IN-VIVO | READ-THROUGH | C-ELEGANS | NEMATODE CAENORHABDITIS-ELEGANS | SACCHAROMYCES-CEREVISIAE | THICK FILAMENTS | MYOSIN HEAVY-CHAIN | Animals, Genetically Modified | Caenorhabditis elegans - genetics | Codon, Terminator - genetics | Humans | Peptides - genetics | 3' Untranslated Regions - genetics | Genes - genetics | Ribosomes - metabolism | Proteins - analysis | CRISPR-Cas Systems - genetics | Proteins - genetics | Animals | Peptides - metabolism | Proteins - metabolism | Hemoglobins, Abnormal - genetics | Protein Biosynthesis - genetics | Proteins - chemistry | Caenorhabditis elegans | Protein research | Codon | Ribosomal proteins | Genetic aspects | Research | Genetic translation | Proteins | Transcription factors | Peptides | Mutagenesis | Protein expression | Mutation | Gene expression
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7. Full Text Severe hemolytic anemia due to combined α thalassemia and de novo Hemoglobin Sabine
by Chen, XinPing and Hu, JunJie and Zhu, Juan and Xu, WeiHua and Yao, HongXia and Wu, AiZhu and Xiao, MeiFang and Lu, Zhe and Yin, LiYan and Fu, ShengMiao
Annals of Hematology, ISSN 0939-5555, 03/2019, Volume 98, Issue 3, pp. 783 - 785
Child, Preschool | Male | alpha-Thalassemia - genetics | Hemoglobins, Abnormal - genetics | Humans | alpha-Thalassemia - blood
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8. Full Text Gene duplication and the evolution of hemoglobin isoform differentiation in birds
by Grispo, Michael T and Natarajan, Chandrasekhar and Projecto-Garcia, Joana and Moriyama, Hideaki and Weber, Roy E and Storz, Jay F
Journal of Biological Chemistry, ISSN 0021-9258, 11/2012, Volume 287, Issue 45, pp. 37647 - 37658
The majority of bird species co-express two functionally distinct hemoglobin (Hb) isoforms in definitive erythrocytes as follows: HbA (the major adult Hb... 
CHICKEN HEMOGLOBIN | GYPS-RUEPPELLII | GLOBIN GENE | ALPHA-A-CHAINS | OXYGEN-BINDING | VERTEBRATE HEMOGLOBINS | BIOCHEMISTRY & MOLECULAR BIOLOGY | HIGH-ALTITUDE RESPIRATION | DUCK AYTHYA-FULIGULA | FUNCTIONAL DIVERSIFICATION | ORGANIC-PHOSPHATES | Gene Duplication | Hemoglobin A - genetics | Molecular Sequence Data | Hemoglobin A - metabolism | Oxygen - metabolism | Genetic Variation | Protein Isoforms - metabolism | Protein Isoforms - chemistry | Cloning, Molecular | Oxygen - chemistry | Birds - blood | Binding, Competitive | Protein Structure, Tertiary | Amino Acid Sequence | Hemoglobins, Abnormal - metabolism | Hemoglobins - metabolism | Models, Molecular | Birds - classification | Hemoglobins - genetics | Hemoglobins, Abnormal - chemistry | Binding Sites - genetics | Sequence Analysis, DNA | Sequence Homology, Amino Acid | Hemoglobin A - chemistry | Hemoglobins - chemistry | Algorithms | Animals | Hemoglobins, Abnormal - genetics | Protein Binding | Kinetics | Birds - genetics | Evolution, Molecular | Protein Isoforms - genetics | Avian Genome | Molecular Biophysics | Molecular Evolution | Hemoglobin | Evolution | Gene Family Evolution | Globin Gene Family | Oxygen Transport | Protein Evolution
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9. Full Text Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping
by Herrmann, Mark G and Durtschi, Jacob D and Wittwer, Carl T and Voelkerding, Karl V
Clinical Chemistry, ISSN 0009-9147, 08/2007, Volume 53, Issue 8, pp. 1544 - 1548
Background: Additional instruments have become available since instruments for DNA melting analysis of PCR products for genotyping and mutation scanning were... 
SINGLE | MEDICAL LABORATORY TECHNOLOGY | RESOLUTION | HETEROZYGOTES | DNA - genetics | Globins - genetics | Hemoglobins, Abnormal - genetics | Humans | Genotype | Heterozygote | Mutation | Transition Temperature | Anemia, Sickle Cell - genetics | Polymerase Chain Reaction - methods | Genotype & phenotype | Biochemistry | Scientific apparatus & instruments | Deoxyribonucleic acid--DNA
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10. Full Text Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China
by Lin, M and Wang, Q and Zheng, L and Huang, Y and Lin, F and Lin, CP and Yang, LY
Clinical Genetics, ISSN 0009-9163, 02/2012, Volume 81, Issue 2, pp. 165 - 171
Lin M, Wang Q, Zheng L, Huang Y, Lin F, Lin CP, Yang LY. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern... 
Hb G‐Chinese | Hb G‐Waimanalo | molecular characterization | Hb Ottawa | abnormal hemoglobin | Abnormal hemoglobin | Hb G-Chinese | Molecular characterization | Hb G-Waimanalo | POPULATION | GENETICS & HEREDITY | ALPHA | MUTATIONS | BETA-THALASSEMIA | IDENTIFICATION | China - ethnology | Prevalence | Humans | China - epidemiology | beta-Globins - genetics | Molecular Typing | alpha-Globins - genetics | Base Sequence | Hemoglobins, Abnormal - genetics | Hemoglobinopathies - genetics | Hemoglobins, Abnormal - classification | Mutation | Amino Acid Substitution | Hemoglobinopathies - epidemiology | Medical colleges | Genetic disorders | Analysis | Glycosylated hemoglobin | Biological apparatus and supplies | Chemical properties | Prevalence studies (Epidemiology) | Hemoglobin | Molecular biology | Polymerase chain reaction | Ethnic groups | Electrophoresis | Thalassemia | Blood | Genotypes | Hereditary diseases
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11. Full Text Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China
by He, Sheng and Qin, Qian and Yi, Shang and Wei, Yuan and Lin, Li and Chen, Shaoke and Chen, Biyan and Deng, Jianping and Xu, Xianmin and Zheng, Chenguang
Gene, ISSN 0378-1119, 07/2017, Volume 619, pp. 71 - 75
Thalassemia is one of the most common hereditary blood disorders. Epidemiological data regarding the occurrence and distribution of thalassemia is important... 
Molecular spectrum | Thalassemia | Prevalence | Globin mutation | MOLECULAR CHARACTERIZATION | POPULATION | GUANGXI | MULTIPLEX-PCR SCREEN | ZHUANG AUTONOMOUS REGION | HUMAN HEMOGLOBIN-VARIANTS | DATABASE | GENETICS & HEREDITY | PROVINCE | MUTATIONS | SPECTRUM | beta-Thalassemia - epidemiology | China | Gene Frequency | Hemoglobins, Abnormal - genetics | Humans | beta-Thalassemia - genetics | beta-Thalassemia - ethnology | alpha-Thalassemia - ethnology | Mutation | alpha-Thalassemia - epidemiology | alpha-Thalassemia - genetics
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12. Full Text Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
by Xiong, F and Sun, M and Zhang, X and Cai, R and Zhou, Y and Lou, J and Zeng, L and Sun, Q and Xiao, Q and Shang, X and Wei, X and Zhang, T and Chen, P and Xu, X
Clinical Genetics, ISSN 0009-9163, 08/2010, Volume 78, Issue 2, pp. 139 - 148
Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Sun Q, Xiao Q, Shang X, Wei X, Zhang T, Chen P, Xu X. Molecular epidemiological survey of... 
molecular epidemiological survey | haemoglobinopathies | thalassaemia | Guangxi Zhuang Autonomous Region | Thalassaemia | Molecular epidemiological survey | Guangxi zhuang autonomous region | Haemoglobinopathies | POPULATION | ALPHA-THALASSEMIA | EAST-ASIA | DISORDERS | PREVALENCE | GLOBIN GENE | H DISEASE | GENETICS & HEREDITY | PROVINCE | MUTATIONS | BETA-THALASSEMIA | Geography | Prevalence | Humans | Molecular Sequence Data | Thalassemia - epidemiology | Male | China - epidemiology | Mutation - genetics | Health Surveys | DNA Mutational Analysis | Base Sequence | Hemoglobinopathies - diagnosis | Hemoglobins, Abnormal - genetics | Alleles | Hemoglobinopathies - genetics | Female | Heterozygote | Thalassemia - genetics | Hemoglobinopathies - epidemiology | Surveys | Hemoglobin | Medical colleges | Genetics | Epidemiology | Molecular biology
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13. Full Text Genetic determinants of haemolysis in sickle cell anaemia
by Milton, Jacqueline N and Rooks, Helen and Drasar, Emma and McCabe, Elizabeth L and Baldwin, Clinton T and Melista, Efi and Gordeuk, Victor R and Nouraie, Mehdi and Kato, Gregory R and Minniti, Caterina and Taylor, James and Campbell, Andrew and Luchtman‐Jones, Lori and Rana, Sohail and Castro, Oswaldo and Zhang, Yingze and Thein, Swee Lay and Sebastiani, Paola and Gladwin, Mark T and Steinberg, Martin H and Walk-PHAAST Investigators and the Walk-PHAAST Investigators
British Journal of Haematology, ISSN 0007-1048, 04/2013, Volume 161, Issue 2, pp. 270 - 278
Summary Haemolytic anaemia is variable among patients with sickle cell anaemia and can be estimated by reticulocyte count, lactate dehydrogenase, aspartate... 
haemolytic anaemia | genetic analysis | thalassaemia | haemolysis | sickle cell anaemia | Thalassaemia | Haemolysis | Sickle cell anaemia | Haemolytic anaemia | Genetic analysis | MORTALITY | POPULATION | HUMAN-DISEASE | ALPHA-THALASSEMIA | POLYMORPHISM | GLOBIN GENE | FETAL-HEMOGLOBIN | REGULATORY ELEMENT HS-40 |