| Geno
|
Mag
|
Summary
|
| (C;C)
|
4.5
|
Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms
|
| (C;T)
|
3
|
Beta Thalassemia carrier; Hemoglobin beta-plus mutation
|
| (T;T)
|
0
|
common in complete genomics
|
| (TA;TA)
|
0
|
common in clinvar
|
[PMID 1787101] A mild thalassemia major resulting from a compound heterozygosity for the IVS-II-1 (G----A) mutation and the rare T----C mutation at the polyadenylation site.
[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.
[PMID 4018033
] Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene.
[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.
[PMID 15315795] Impact of beta globin gene mutations on the clinical phenotype of beta thalassemia in India.
[PMID 21119755] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.
] Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene.
