Gilman J G, Manca L, Frogheri L, Pistidda P, Guiso L, Longinotti M, Masala B
Division of Hematology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York 10467.
Am J Hematol. 1994 Mar;45(3):265-7. doi: 10.1002/ajh.2830450316.
The beta zero-thalassemia codon 39 nonsense mutation predominant in Sardinia is severe, and homozygotes are transfusion dependent. Two-thirds of beta zero 39 alleles are linked to A gamma T (haplotype II). One-fourth are linked to A gamma I (haplotypes I and IX), as is the mild beta +-thalassemia -87 C-->G mutation (haplotype VIII). beta +/beta zero-Thalassemia VIII/II compound heterozygotes have significantly higher A gamma I:A gamma T (23:7) than beta zero-thalassemia I/II (24:20) or IX/II (16:17) cases. This suggests that the beta + -87 mutation is associated with elevated gamma expression in cis, which may contribute to the lack of transfusion-dependence in beta +/beta zero cases.
