Summary
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.
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Saito, S. Study of abnormal hemoglobin in Ehime, Japan: Two structural variants of hemoglobin A (Hb I and Hb J iran) and structural and synthetic variants of delta chain. Jap J Human Genet 29, 335–351 (1984). https://doi.org/10.1007/BF01871249
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DOI: https://doi.org/10.1007/BF01871249