Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HBA2

Gene name: hemoglobin, alpha 2
OMIM ID: 141850
Chromosome location: 16p13.3

Mutations

Disease/PhenotypeThalassemia, alpha 2
Reference transcriptNM_000517.4
DNA Changec.112C>T
A.A. Changep.Pro38Ser
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceVersteegh 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.