Thalassemia, alpha 1
OMIM:141800Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | HBA1 |
|---|---|
| Reference transcript | NM_000558.3 |
| DNA Change | c.358C>T |
| A.A. Change | p.Pro120Ser |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Harteveld CL, van Delft P, Plug R, Versteegh FG, Hagen B, van Rooijen I, Kok PJ, Wajcman H, Kister J, Giordano PC.Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2002 Aug;26(3):255-60. |