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

doi:10.3109/03630268808996878

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

Pulmonary Disease

Research output: Contribution to journal › Article › peer-review

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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 language	English (US)
Pages (from-to)	13-21
Number of pages	9
Journal	Hemoglobin
Volume	12
Issue number	1
DOIs	https://doi.org/10.3109/03630268808996878
State	Published - 1988

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical

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@article{d214ba8eb3c14784a2634dd1f93d33b2,

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

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.",

author = "S. Liang and Z. Tang and C. Su and Q. Lung and R. Liang and Fei, {Y. J.} and Ferdane Kutlar and Wilson, {J. B.} and Mebber, {B. B.} and H. Hu and Huisman, {T. H.J.}",

note = "Funding Information: This research was supported by USPHS Research Grants HLB-05168 and HLB-15158, and by Grants o f the Academy o f Sciences o f China 841655. This i s contribution #lo77 from the Department o f Cell and Molecular Biology at the Medical College of Georgia in Augusta, Georgia.",

year = "1988",

doi = "10.3109/03630268808996878",

language = "English (US)",

volume = "12",

pages = "13--21",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Informa Healthcare",

number = "1",

}

TY - JOUR

T1 - HB duan [α75(EF4)ASP→ALA), HB Westmead [α122(h5)HIS→GLN], and αthalassemia-2 (-4.2 KB deletion) in a chinese family

AU - Liang, S.

AU - Tang, Z.

AU - Su, C.

AU - Lung, Q.

AU - Liang, R.

AU - Fei, Y. J.

AU - Kutlar, Ferdane

AU - Wilson, J. B.

AU - Mebber, B. B.

AU - Hu, H.

AU - Huisman, T. H.J.

N1 - Funding Information: This research was supported by USPHS Research Grants HLB-05168 and HLB-15158, and by Grants o f the Academy o f Sciences o f China 841655. This i s contribution #lo77 from the Department o f Cell and Molecular Biology at the Medical College of Georgia in Augusta, Georgia.

PY - 1988

Y1 - 1988

N2 - 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.

AB - 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.

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U2 - 10.3109/03630268808996878

DO - 10.3109/03630268808996878

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AN - SCOPUS:0023887610

SN - 0363-0269

VL - 12

SP - 13

EP - 21

JO - Hemoglobin

JF - Hemoglobin

IS - 1

ER -

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

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