Thalassemia, alpha 2
OMIM:141850Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | HBA2 |
|---|---|
| Reference transcript | NM_000517.4 |
| DNA Change | c.112C>T |
| A.A. Change | p.Pro38Ser |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Versteegh FG, Arkesteijn SG, Bakker-Verweij M, Haanappel K, van Delft P, Phylipsen M, Kaufmann JO, Kok PJ, Lansbergen GW, Giordano PC, Harteveld CL.Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new ?2 chain variant observed in a Morrocan family. Hemoglobin. 2011;35(2):97-102. |