Loss of alpha‐globin genes in human subjects is associated with improved nitric oxide‐mediated vascular perfusion
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Hematology"
DOI: 10.1002/ajh.26058
Abstract: Alpha thalassemia is a hemoglobinopathy due to decreased production of the α‐globin protein from loss of up to four α‐globin genes, with one or two missing in the trait phenotype. Individuals with sickle cell disease… read more here.
Keywords: globin genes; globin; human subjects; globin gene ... See more keywords
Alpha‐globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23018
Abstract: It is estimated about 7% of the world population is carriers of hemoglobin diseases. Alpha‐thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha‐globin mutations in potential carriers… read more here.
Keywords: anemia mazandaran; gene mutation; globin gene; alpha globin ... See more keywords
Estimating the age of Hb G‐Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β‐globin gene cluster in Denizli, Turkey
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DOI: 10.1002/mgg3.404
Abstract: Hb G‐Coushatta variant was reported from various populations’ parts of the world such as Thai, Korea, Algeria, Thailand, China, Japan and Turkey. In our study, we aimed to discuss the possible historical relationships of the… read more here.
Keywords: globin gene; coushatta; denizli turkey; gene cluster ... See more keywords
Structural Switching/ polymorphism by sequential base substitution at quasi-palindromic SNP site (G→A), in LCR of Human β-globin Gene cluster.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of biological macromolecules"
DOI: 10.1016/j.ijbiomac.2021.12.142
Abstract: The human β-globin gene Locus Control Region (LCR), a dominant regulator of globin gene expression contains five tissue-specific DNase I-hypersensitive sites (HSs). A single nucleotide polymorphism (SNP) (A→G) present in HS4 region of locus control… read more here.
Keywords: globin gene; base; human globin; gene ... See more keywords
Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia
Sign Up to like & getrecommendations! Published in 2019 at "Saudi Journal of Biological Sciences"
DOI: 10.1016/j.sjbs.2019.03.003
Abstract: Sickle cell anemia (SCA) is one of the most common hematologic diseases affecting humans. Detection of a single base pair mutation at 6th codon of β-globin gene is important for the diagnosis of SCA. The… read more here.
Keywords: globin gene; cell anemia; gene saudi; gene ... See more keywords
Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects
Sign Up to like & getrecommendations! Published in 2020 at "Scandinavian Journal of Clinical and Laboratory Investigation"
DOI: 10.1080/00365513.2020.1852598
Abstract: Abstract Interaction of structural hemoglobin (Hb) variants with α- or β-globin defects are occasional in Southeast Asia. Herein we provide the first description of Hb Athens-Georgia (Hb A-Ga) in association with deletional Hb H disease,… read more here.
Keywords: globin gene; hbb 122g; disease; thai family ... See more keywords
A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T
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DOI: 10.1080/03630269.2017.1402027
Abstract: Abstract We report a novel mutation on the α2-globin gene, HBA2: c.184A>T, detected in a Chinese proband. This mutation resulted in a Lys→Term substitution at position 62 of the α2-globin gene, causing a premature termination… read more here.
Keywords: mutation globin; globin gene; hba2 184a; gene hba2 ... See more keywords
Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance
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DOI: 10.1080/03630269.2018.1473255
Abstract: Abstract Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have… read more here.
Keywords: inconsistent interpretations; globin gene; sequence variants; intronic variants ... See more keywords
A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo
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DOI: 10.1080/03630269.2019.1638797
Abstract: Abstract In Bangladesh, the practice of β-thalassemia (β-thal) carrier screening and prenatal diagnosis (PND) by β-globin gene sequencing has been initiated to prevent the birth of affected children. The study aimed to describe a novel… read more here.
Keywords: globin gene; family; hbb 27delg; novel pathogenic ... See more keywords
Hematological Characteristics of β-Globin Gene Mutation –50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China
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DOI: 10.1080/03630269.2020.1793774
Abstract: Abstract The −50 (G>A) (HBB: c.-100G>A) mutation was first reported as a β-thalassemia (β-thal) allele in a Chinese family. However, the hematological features of carriers with this variant are not available. In this study, we… read more here.
Keywords: hematological characteristics; thal; globin gene; hbb 100g ... See more keywords
Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2072325
Abstract: Abstract We report a de novo frameshift mutation in exon 3 of the β-globin gene that leads to a β-thalassemia (β-thal) intermedia (β-TI) phenotype in a 6-year-old Chinese boy. This novel mutation with deletion of… read more here.
Keywords: deletion; exon globin; dominantly inherited; globin gene ... See more keywords