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

Thalassemia, alpha 1

OMIM:141800
Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolHBA1
Reference transcriptNM_000558.3
DNA Changec.358C>T
A.A. Changep.Pro120Ser
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceHarteveld 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.