Williams, Jonathan P., Scrivens, James H., Green, Brian N., Farrar, Lisa M. and Sutcliffe, Michaela. (2007) Hb leeds [beta 56(D7)Gly -> Cys]: A new hemoglobin that aggravates anemia in a child with beta(0)-thalassemia trait. HEMOGLOBIN, 31 (3). pp. 367-373. ISSN 0363-0269

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Abstract

A novel beta chain variant found in combination with beta-thalassemia (thal) was identified in a male infant by electrospray ionization mass spectrometry (ESTMS). Analysis of the infant's denatured blood and a 30 min. tryptic digest of his blood identified the mutation as beta 56(D 7)Gly -> Cys, which was confirmed by tandem mass spectrometry (MS/MS). We have named this new variant Hb Leeds. The infant's parents, resident in Yorkshire, UK, but originally from Pakistan, were found to have beta(0)-thalassemia (thal) trait (mother) and Hb Leeds trait (father). Hematological data on the infant's parents and siblings are given. Hb Leeds trait was also found in three unrelated Pakistani adults living in the same area of Yorkshire. Hb Leeds trait in adults appears to have few clinical manifestations, but when combined with beta(0)- thal it led to a more severe anemia in the infant than in the corresponding thalassemic trait in his mother.

Item Type:	Journal Article
Subjects:	Q Science > QD Chemistry R Medicine > RB Pathology
Journal or Publication Title:	HEMOGLOBIN
Publisher:	TAYLOR & FRANCIS INC
ISSN:	0363-0269
Date:	2007
Volume:	31
Number:	3
Number of Pages:	7
Page Range:	pp. 367-373
Identification Number:	10.1080/03630260701459390
Publication Status:	Published
URI:	http://wrap.warwick.ac.uk/id/eprint/31746

Data sourced from Thomson Reuters' Web of Knowledge

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