Human | BCL11A | 53335 | B-cell CLL/lymphoma 11A (zinc finger protein) | These results indicate that BCL11A variants, by modulating HbF levels, act as an important ameliorating factor of the beta-thalassemia phenotype, and it is likely they could help ameliorate other hemoglobin disorders Study shows that SNPs in BCL11A were associated with HbF containing erythrocyte numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia |
Human | AHSP | 51327 | alpha hemoglobin stabilizing protein | The 12391 G>A SNP is common and represents a potential mechanism through which genetically determined variations in AHSP expression could influence beta-thalassemia Using gene mapping, direct genomic sequencing, and extended haplotype analysis, no mutation or specific association between haplotypes of AHSP and disease severity was found, suggesting that AHSP is not a disease modifier in Hb E-beta thalassemia |
Human | PALLD | 23022 | palladin, cytoskeletal associated protein | Quantitative analysis of erythrocyte membrane proteins revealed decrease in palladin from patients with homozygous and heterozygous forms of beta-thalassemia |
Human | CAP1 | 10487 | CAP, adenylate cyclase-associated protein 1 (yeast) | Based on an analysis of 1075 beta-thalassemia alleles the CAP+1 (A-->C) mutation constituted 3.2% of north Indians |
Human | TPH1 | 7166 | tryptophan hydroxylase 1 | It is suggested that TPH1 protein may be implicated in schizophrenia with beta-thalassemia simultaneously, present on the short arm of chromosome 11 |
Human | TFRC | 7037 | transferrin receptor (p90, CD71) | Serum transferrin receptor (TFR) is not a decisive parameter that can be utilized alone in discriminating the border-line situations between normal and beta thalassemia carriers or storage iron deficiency in children |
Human | TERT | 7015 | telomerase reverse transcriptase | severe anemia with low Hb concentration might up regulate hTERT expression of bone marrow CD34+ cells and serum erythropoietin levels in patients with beta-thalassemia major |
Human | SPTBN1 | 6711 | spectrin, beta, non-erythrocytic 1 | Quantitative analysis of erythrocyte membrane proteins revealed increase in beta-spectrin from patients with homozygous and heterozygous forms of beta-thalassemia |
Human | SPTA1 | 6708 | spectrin, alpha, erythrocytic 1 (elliptocytosis 2) | Quantitative analysis of erythrocyte membrane proteins revealed increase in alpha-spectrin from patients with homozygous and heterozygous forms of beta-thalassemia |
Human | SLC4A1 | 6521 | solute carrier family 4 (anion exchanger), member 1 | Quantitative analysis of erythrocyte membrane proteins revealed decrease in band 3 protein from patients with homozygous and heterozygous forms of beta-thalassemia |
Human | PON1 | 5444 | paraoxonase 1 | This paper represents the study of 64 cases of Hb Q, documenting the haematological and molecular findings on 36 cases of Hb Q trait, 22 of Hb Q beta-thalassaemia trait and three of Hb Q beta-thalassaemia major, and a family of Hb Q homozygous cases We suggest that impairment of PON1 activity in patients with beta-thalassemia hemoglobin E may be directly caused by oxidative damage |
Human | LCN2 | 3934 | lipocalin 2 | adult beta-thalassemia patients upregulated NGAL expression compared to normal samples; no upregulation was observed in pediatric patients; upregulation may play an important role in decreasing reactive oxygen species or iron in beta-thalassemia patients |
Human | KIR3DL1 | 3811 | killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 | KIR donor-recipient genotype is not predictive for the outcome of unrelated-donor hematopoietic stem cell tranplantation in patients with beta-Thalassemia |
Human | IL8 | 3576 | interleukin 8 | Increased plasma levels of interleukin-6 and interleukin-8 are observed in beta-thalassaemia major patients and may be relevant in the pathophysiology of beta-thalassaemia |
Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | Increased plasma levels of interleukin-6 and interleukin-8 are observed in beta-thalassaemia major patients and may be relevant in the pathophysiology of beta-thalassaemia |
Human | IGF1 | 3479 | insulin-like growth factor 1 (somatomedin C) | Growth hormone deficiency alone does not account for the high prevalence of reduced IGF-1 in adult beta-thalassemia |
Human | HLA-DQB1 | 3119 | | HLA-DQB1*06 allele is associated with pathogenesis of the major beta-thalassemia in Guangdong area |
Human | HFE | 3077 | hemochromatosis | results suggest that hemochromatosis protein HFE mutations C282Y and H63D are more frequent in Iranian beta-thalassemia patients than in the normal population |
Human | HBG2 | 3048 | hemoglobin, gamma G | Title:Genetic factors affecting clinical severity in beta-thalassemia syndromes.|Association:Not Found|Conclusion:Types of beta-thalassemia mutation and coinheritance of alpha-thalassemia in the patient who has at least one allele of the mild beta-thalassemia genotype are predictive for the clinical severity of the disease. However, a mild clinical symptom in some patients with betao/beta+-thalassemia or betao-thalassemia/Hb E who do not have a detectable alpha-thalassemia haplotype and no linkage with XmnI++ suggests that there are other confounding factors responsible for the severity differences of the disease. |
Human | HBD | 3045 | hypophosphatemic bone disease | Borderline HbA(2) is not a rare event in a population with a high prevalence of beta-thalassemia carriers Deletion pf this geneis a common, and possibly the predominant beta-thalassemia mutation of the Austroasiatic Lao Theung population |
Human | HBB | 3043 | hemoglobin, beta | Click here to display 18 evidence detail records. |
Human | HBA1 | 3039 | hemoglobin, alpha 1 | study of mutations on severity in beta-thalassemia patints: efffects of alpha- thalassemia |
Human | GSN | 2934 | gelsolin | Analysis of major platelet membrane proteins revealed significant increase in gelsolin from patients with homozygous and heterozygous forms of beta-thalassemia |
Human | G6PD | 2539 | glucose-6-phosphate dehydrogenase | Whereas the frequency of beta-thalassemia minor among Moslems is higher than in the Jews in Shiraz, the frequency of G6PD deficiency was not significantly different in the two populations |
Human | ANK2 | 287 | ankyrin 2, neuronal | Quantitative analysis of erythrocyte membrane proteins revealed increase in ankyrin from patients with homozygous and heterozygous forms of beta-thalassemia |