Organization of alpha-globin genes in Hb Hasharon (alpha 47 asp replaced by his) carriers.
Restriction enzymes analysis of the DNA from two unrelated Italian families with Hb Hasharon, a variant Hb (alpha 47asp replaced by his) frequently occurring in the Polesine area in Italy, indicates that this variant is associated to an alpha globin gene deletion. The alpha Hash genotype most likely results from a mutation on an alpha thal2 genotype.
D001216:Asparagine; D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes / Q000235:genetics; D005796:Genes; D006580:Genetic Carrier Screening; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006639:Histidine; D006801:Humans; D007558:Italy; D013789:Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; D006639:Histidine; D001216:Asparagine; D005914:Globins; D004262:DNA Restriction Enzymes