Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns

K. Shimizu, T. Harano, K. Harano, S. Miwa, Y. Amenomori, Y. Ohba, F. Kutlar, T. H. Huisman

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10 Scopus citations


Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in α-globin gene and γ-globin gene arrangements using gene mapping and γ-chain composition analyses. The results confirmed the rarity of α-thalassemia among Japabese; only a few babies had α-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had α-globin gene triplications (both the ααα(anti-3.7) and the ααα(anti-4.2) types). Among the γ-globin gene anomalies that were observed, a few babies had the -(A)γ-(A)γ- globin gene arrangement or the -(G)γ(A)γ- type of deletion. The γ-chain triplication (-(G)γ-(A){G)γ-(A)γ-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -(G)γ(A)γ-deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the γ-globin gene deletion and triplication. The (A)γ(T) variant, which is the product of a mutant (A)γ-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant (A)γ gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with β-thalassemia.

Original languageEnglish (US)
Pages (from-to)45-58
Number of pages14
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - Jul 16 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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