Gene Information from Publications |
| Publication Link |
Summary of findings |
| 11154980 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17996867 |
Our study suggests that the regulation of alpha-URE and beta-LCR on the expression level and developmental switching mode of downstream globin genes is cluster specific. |
| 17715390 |
mechanism by which the human globin genes are activated during erythropoiesis |
| 17920577 |
In alpha-thalassemia, alpha/beta-globin mRNA ratio correlated with the number of functional alpha-globin genes present, whereas in beta-thalassemia, the ratio provided a good indicator of disease severity. |
| 17589844 |
multiple origins of the alpha(CS) and a single origin of the alpha(Pakse) mutations in Southeast Asia |
| 17587614 |
interaction of the Hb Constant Spring EE Bart's disease produces a tetrameric Hb molecule is formed between alpha(CS) and beta(E) chains leading to a hybrid Hb |
| 11836160 |
Hb Pakse differs from Hb CS by having lysine at 142 instead of glutamine. It also seems to lead to an unstable alpha globin mRNA and slighter higher Hb H levels. |
| 12673836 |
Review. The effects of alpha-globin genotype on the pathophysiology of sickle cell anemia, HbSC disease, and sickle beta-thalassemia are studied. |
| 16798639 |
Hb Al-Hammadi Riyadh [codon 75 (GAC-->GTC); alpha75(EF4)Asp-->Val (alpha2)] corresponds to an A-->T transversion in the second exon of the alpha2-globin gene. |
| 12659864 |
Crystallization and X-ray structure of this protein, isolated from blood of beta-thalassemic patients. |
| 16418531 |
Data show the frequent juxtaposition of active alpha- and beta-globin genes and of homologous alpha-globin loci that occurs at nuclear speckles and correlates with transcription. |
| 12730694 |
in alpha-thalassemia, transcription of antisense RNA mediates silencing and methylation of the associated CpG island of the HBA2 gene |
| 15365991 |
Gene scanning of HBA2 genes in thalassemic patients revealed 3 new alleles: c.1A>G, c.79G>A, and c.281T>G. |
| 15449937 |
A high-resolution crystal structure of ferrocyanide-bound HbA2 is presented that throws light on the location and mode of binding of ferrocyanide anion with hemoglobin. |
| 16436049 |
We proved that, in the human alpha-globin gene cluster, the normal order of structural genes relative to alpha-Upstream Regulatory Element plays a crucial role in the regulation of developmental switching. |
| 12779272 |
High frequency of the Hb A2 abnormality, reaching higher numbers among blacksmiths living in the same village in Mali. |
| 12779276 |
Alpha-thalassemia mutations in Iranian individuals are not found in HBA2. |
| 14649316 |
Hb Setif with Asp-to-Tyr missense mutation at codon 94 was studied. The abnormal hemoglobin comprised 15% of total Hb, tested negative for erythrocyte sickling, but exhibited pseudosickling in vitro. |
| 14649319 |
the phenotype of the carrier state makes it likely that this codon 90 mutation will cause severe Hb H disease when inherited with a two gene deletion mutation |
| 15128423 |
Sequencing of alpha-globin genes of 18 Sardinian heterozygotes for the Hb G-Philadelphia; identification of the C-->G mutation on the normal alpha alpha chromosome points to an undescribed genotype |
| 16103716 |
Finds hemoglobin H disease involving the alpha-2-globin mutation (AATAAA-->AATAAG) is a mild thal intermedia phenotype among Kuwaitis |
| 12360531 |
Allosteric effects of chloride ions at the interfaces between the alphabeta dimers. |
| 16847316 |
Results describe the shared stabilization functions of pyrimidine-rich determinants in the erythroid 15-lipoxygenase and alpha-globin mRNAs. |
| 17486499 |
family with a rare combination of two abnormal alpha-globin genes, a two-base deletion and a .7 kb alpha gene deletion. |
