Showing papers on "Hemoglobin A2 published in 1984"
TL;DR: It is concluded that in human normal adult hemoglobin, both beta 116 and beta 117 histidine residues are titratable in both the deoxy and the carbonmonoxy forms and can contribute to the Bohr effect of human normalAdult hemoglobin.
20 citations
TL;DR: A Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalASSaemia with the clinical phenotype of mild thalassAemia intermedia, showed a single alpha globin gene deletion, which accounted for the mild clinical phenotype.
Abstract: This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.
2 citations
TL;DR: During a survey for abnormal hemoglobins in Ehime Prefecture, Shikoku, Japan, it was found that rare δ chain abnormalities were frequently found and the δ-thalassemia was associated with hereditary persistence of fetal hemoglobin (HPFH) of heterocellular type in two families but not in the other three families.
Abstract: During a survey for abnormal hemoglobins in Ehime Prefecture, Shikoku, Japan, we found six cases of structural variants (one α chain, one β chain and four δ chain variants) and five cases of homozygous δ-thalassemia. From this, the frequency of visible structural variants detected in this survey was approximately one per 5,400 specimens. In addition, three cases with an elevation of hemoglobin A2 and 41 cases with an elevation of hemoglobin F were found. The α chain variant was identified as hemoglobin I (α16 Lys→Glu), and the β chain variant as hemoglobin J Iran (β77 His→Asp). Neither of these variants has been previously found in Japanese. Of great interest in this survey was that rare δ chain abnormalities were frequently found. Four of them were δ chain structural variants and five were homozygous δ-thalassemia. In addition, the δ-thalassemia was associated with hereditary persistence of fetal hemoglobin (HPFH) of heterocellular type in two families but not in the other three families.
2 citations