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Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1153 - 1156
ABSTRACT We report an infant with sickle cell disease phenotype by biochemical analysis whose β‐globin gene (HBB) sequencing showed sickle cell mutation (HBBS)... 
regulation | globin genes | HBB duplication | sickle cell disease | Globin genes | Regulation | Sickle cell disease | Humans | Gene Silencing | Female | Genes, Duplicate | Infant | Transcription, Genetic | Locus Control Region | Mutation | 3' Flanking Region | beta-Globins - genetics | Anemia, Sickle Cell - genetics
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1153 - 1156
We report an infant with sickle cell disease phenotype by biochemical analysis whose -globin gene (HBB) sequencing showed sickle cell mutation (HBBS)... 
LOCUS-CONTROL REGION | ELEMENTS | ACTIVATION | regulation | globin genes | HBB duplication | TRANSCRIPTION | GENETICS & HEREDITY | LCR | sickle cell disease | DELETION | Nucleases | Corporate sponsorship | Sickle cell anemia | Analysis | Genes | Genetic research | Genetic engineering | Genetic transcription | DNA binding proteins | Enzymes | Genotype & phenotype | Mutation | Gene expression | Sickle cell disease
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 10, p. e25876
Single amino acid substitutions in the globin chain are the most common forms of genetic variations that produce hemoglobinopathies- the most widespread... 
HEMOGLOBINOPATHIES | VARIANTS | PROTEIN-STRUCTURE | SEQUENCE | DISEASE | BIOLOGY | STABILITY CHANGES | NON-SYNONYMOUS SNPS | MUTATIONS | DATABASE-DERIVED POTENTIALS | AGGREGATION | Amino Acid Sequence | Sequence Deletion | Computational Biology - methods | Protein Structure, Secondary | Solvents - chemistry | Humans | Molecular Sequence Data | Data Mining | beta-Globins - genetics | Molecular Dynamics Simulation | beta-Globins - metabolism | Hemoglobinopathies - genetics | Polymorphism, Single Nucleotide | Software | Thalassemia - genetics | beta-Globins - chemistry | Deformation | Structural stability | Science | Molecular dynamics | Chains | Homology | Amino acids | Genomes | Biochemistry | Single-nucleotide polymorphism | Homozygosity | Gene polymorphism | DNA repair | Proteins | Hemolytic anemia | Energy conservation | Hemoglobin | Atomic structure | Sickle cell disease | Environmental assessment | Computer simulation | Malaria | Deformation mechanisms | Anemia | Complications | Abnormalities | Macromolecules | Amino acid sequence | Genetic diversity | Gene expression | HBB gene | Hereditary diseases | Heterozygosity | Studies | Pupa | Algorithms | Acids | Chain dynamics | Graphical user interface | Biomarkers | Mutation | Protein structure | Relational data bases | Structural analysis | Polymorphism | Structure-function relationships
Journal Article
Archives of Medical Science, ISSN 1734-1922, 01/2018, Volume 14, Issue 1, pp. 230 - 236
Introduction: Elevated HbA2 (hemoglobin A2) level is considered the most reliable hematological parameter for the detection of β-thalassemia carriers. However,... 
Saudi Arabia | KLF1 gene | Borderline HbA2 | Variations | HBA1 gene | Β-thalassemia carrier | HBA2 gene | HBB gene | Genes | borderline HbA2 | variations | β-thalassemia carrier | Basic Research
Journal Article
ARCHIVES OF MEDICAL SCIENCE, ISSN 1734-1922, 01/2018, Volume 14, Issue 1, pp. 230 - 236
Introduction: Elevated HbA(2) (hemoglobin A(2)) level is considered the most reliable hematological parameter for the detection of beta-thalassemia carriers.... 
beta-thalassemia carrier | KLF1 gene | PROTEIN | ALPHA | HBA2 gene | HBB gene | Saudi Arabia | MEDICINE, GENERAL & INTERNAL | GLOBIN GENE | variations | FETAL-HEMOGLOBIN | HBA1 gene | COMMON | borderline HbA | MUTATIONS
Journal Article
International Journal of Laboratory Hematology, ISSN 1751-5521, 02/2013, Volume 35, Issue 1, pp. 26 - 30
Summary Introduction There are approximately 800 different genomic alterations of the β‐globin gene described in the human hemoglobin variant (HbVar) database.... 
mutation | HBB | intermedia | 3′ UTR | β‐globin | β-globin | Mutation | Intermedia | HEMOGLOBIN | beta-globin | 3 ' UTR | HEMATOLOGY | Severity of Illness Index | Introns | Humans | Middle Aged | beta-Thalassemia - genetics | beta-Thalassemia - physiopathology | Family Health | Male | beta-Globins - genetics | Young Adult | Turkey | beta-Globins - metabolism | Adolescent | Adult | Female | Heterozygote | beta-Thalassemia - metabolism | 3' Untranslated Regions | Child
Journal Article
Journal of Natural Science, Biology and Medicine, ISSN 0976-9668, 01/2019, Volume 10, Issue 1, pp. 97 - 102
Journal Article
Molecular and Cellular Pediatrics, ISSN 2194-7791, 12/2018, Volume 5, Issue 1, pp. 1 - 7
β-Thalassemia is an inherited hematological disorder caused by mutations in the human hemoglobin beta (HBB) gene that reduce or abrogate β-globin expression.... 
Pediatrics | Medicine & Public Health | CRISPR/Cas9 | Cas9 mRNA | Oncology | HBB | Beta-thalassemia | Diabetes | Endocrinology | Gene correction | IVS1–110 | CD34 antigen | CRISPR | Autografts | Splicing | Stem cell transplantation | Insertion | Thalassemia | Homology | mRNA | Gene expression | Hematopoietic stem cells | HBB gene | Hemopoiesis | Next-generation sequencing | Mutagenesis | Insertional mutagenesis | Stem cells | Hemoglobin | Mutation
Journal Article
Human Mutation, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1361 - 1365
ABSTRACT We describe the molecular etiology of β+‐thalassemia that is caused by the insertion of the full‐length transposable element LINE‐1 (L1) into the... 
LINE‐1 | epigenetic repression | HBB | β‐thalassemia | β‐globin | β-globin | LINE-1 | Epigenetic repression | β-thalassemia
Journal Article
by Xu, LP and Chen, MH and Huang, HL and Lin, N and Chen, LJ and Wang, Y and Zhang, M and He, DQ and Lin, Y
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, ISSN 1936-2625, 2019, Volume 12, Issue 8, pp. 3070 - 3076
Beta (beta)-thalassemia (that) is one of the most common genetic disorders of hemoglobin synthesis worldwide. Most cases of beta-that are caused by point... 
phenotype | mutation | ONCOLOGY | gene | BETA-THALASSEMIA MUTATIONS | HBB | ALPHA | HEMOGLOBIN-VARIANT | SPECTRUM | PATHOLOGY | beta-thal | FAMILY
Journal Article
Journal Article