| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
Beta Thalassemia carrier; Hemoglobin beta-plus mutation
|
| (T;T)
|
4.5
|
Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms
|
[PMID 2713503] A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia.
[PMID 2346726] The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.
[PMID 7909640] Binding of nuclear factors to the proximal and distal CACCC motifs of the beta-globin gene promoter: implications for the -101 (C-->T) 'silent' beta-thalassemia mutation.
[PMID 8172199] Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening.
[PMID 8980256] Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype.
