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 Citations (Scopus)

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

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Thalassemia
Globins
Chromosomes
Substitution reactions
Genes
Codon
Fathers
Mothers
Hemoglobin Westmead
hemoglobin Duan

ASJC Scopus subject areas

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

Cite this

HB duan [α75(EF4)ASP→ALA), HB Westmead [α122(h5)HIS→GLN], and αthalassemia-2 (-4.2 KB deletion) in a chinese family. / Liang, S.; Tang, Z.; Su, C.; Lung, Q.; Liang, R.; Fei, Y. J.; Kutlar, Ferdane; Wilson, J. B.; Mebber, B. B.; Hu, H.; Huisman, T. H.J.

In: Hemoglobin, Vol. 12, No. 1, 01.01.1988, p. 13-21.

Research output: Contribution to journalArticle

Liang, S, Tang, Z, Su, C, Lung, Q, Liang, R, Fei, YJ, Kutlar, F, Wilson, JB, Mebber, BB, Hu, H & Huisman, THJ 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, vol. 12, no. 1, pp. 13-21. https://doi.org/10.3109/03630268808996878
Liang, S. ; Tang, Z. ; Su, C. ; Lung, Q. ; Liang, R. ; Fei, Y. J. ; Kutlar, Ferdane ; Wilson, J. B. ; Mebber, B. B. ; Hu, H. ; Huisman, T. H.J. / HB duan [α75(EF4)ASP→ALA), HB Westmead [α122(h5)HIS→GLN], and αthalassemia-2 (-4.2 KB deletion) in a chinese family. In: Hemoglobin. 1988 ; Vol. 12, No. 1. pp. 13-21.
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