HB duan [α75(EF4)ASP→ALA), HB Westmead [α122(h5)HIS→GLN], and αthalassemia-2 (-4.2 KB deletion) in a chinese family

S. Liang, Z. Tang, C. Su, Q. Lung, R. Liang, Y. J. Fei, Ferdane Kutlar, J. B. Wilson, B. B. Mebber, H. Hu, T. H.J. Huisman

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Detailed data are presented concerning the relative amounts of Hb A and two α chain variants (Hb Duan with α75 Asp→Ala, and Hb Westmead with α 122 His→Gln), and the occurrence of an αthalas-semia-2 heterozygosity in five members of a small Chinese family. The three children who have the three abnormalities inherited the αDuan and a-thalassemia-2 heterozygosities from their father, and the αWestmead heterozygosity from their mother. The base substitution which leads to the synthesis of the a-Duan chain occurred at codon 75 of the α1 globin gene of the chromosome which also carried the αthalassemia-2 deletion; the concentration of αDuan (37% of total α is similar to that observed for other α chain variants, linked to an αthalassemia-2 condition.

Original languageEnglish (US)
Pages (from-to)13-21
Number of pages9
JournalHemoglobin
Volume12
Issue number1
DOIs
StatePublished - Jan 1 1988

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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    Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y. J., Kutlar, F., Wilson, J. B., Mebber, B. B., Hu, H., & Huisman, T. H. J. (1988). HB duan [α75(EF4)ASP→ALA), HB Westmead [α122(h5)HIS→GLN], and αthalassemia-2 (-4.2 KB deletion) in a chinese family. Hemoglobin, 12(1), 13-21. https://doi.org/10.3109/03630268808996878