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The page below is a sample from the LabCE course Beta Thalassemia. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Normal Chromosome 11

Beta chain synthesis is controlled by two gene loci, one on each of chromosome 11. Chromosome 11 also carries the gene loci for delta chains, G-gamma and A-gamma chains, and embryonic epsilon chains. Normal chromosome 11 is depicted in the image below.
In the genotypic notation of beta thalassemia, recall that a "+" represents a reduction in beta chain production whereas a "0" represents a complete deletion of a locus. The "+s" or "sc" represents a silent carrier. Delta chain deletions may be present in combination with beta chain deletions.

(drawing modified from Harmening, 1999)