Acquired alpha-thalassemia in preleukemia is due to decreased expression of all four alpha-globin genes.
A somatic mutation(s), acquired during the evolution of preleukemia in a 75-year-old Caucasian male of North European origin, resulted in a marked decrease in alpha-globin mRNA. The small amount of alpha-globin mRNA present in bone marrow cells was normally processed, had a normal (alpha 1/alpha 2)-globin mRNA ratio, and was translated normally. No detectable zeta-globin mRNA was found. The alpha- and zeta-globin genes were both hypomethylated and restriction endonuclease maps of the alpha- and zeta-globin genes were comparable in the patient's marrow and fibroblast DNA. The data are most consistent with the acquisition of a mutation(s) that resulted in decreased expression of all four alpha-globin genes.
D000368:Aged; D001483:Base Sequence; D004262:DNA Restriction Enzymes; D004274:DNA, Recombinant; D005796:Genes; D005914:Globins / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D011061:Poly A / Q000235:genetics; D011289:Preleukemia / Q000150:complications / Q000235:genetics*; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000235:genetics; D013789:Thalassemia / Q000150:complications / Q000235:genetics*
D004274:DNA, Recombinant; D012333:RNA, Messenger; D011061:Poly A; D005914:Globins; D004262:DNA Restriction Enzymes