Genetics of Alpha Thalassemia
Chromosome 16 contains the genetic codes for the zeta and alpha hemoglobin chains.
Each chromosome has two loci alpha chains
1 and
2. This equals a total of four loci of material coding for the alpha hemoglobin chain. See the image for a visual representation of these loci.
In the genotypic notation of alpha thalassemia an "
" represents the presence of an alpha locus. A "-" represents a deletion of a locus.
The notation for the normal number of alpha loci is 
/
.
The amount of Hb A produced by this normal gene is 97-98 %.
(drawing modified from Harmening, 1999)