Hb Leeds [beta56(D7)Gly-->Cys]: a new hemoglobin that aggravates anemia in a child with beta(0)-thalassemia trait.
A novel beta chain variant found in combination with beta(0)-thalassemia (thal) was identified in a male infant by electrospray ionization mass spectrometry (ESI-MS). Analysis of the infant's denatured blood and a 30 min. tryptic digest of his blood identified the mutation as beta56(D7)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.
Williams
Jonathan P
JP
Department of Biological Sciences, University of Warwick, Coventry, Warwickshire, UK. j.p.williams@warwick.ac.uk
Scrivens
James H
JH
Green
Brian N
BN
Farrar
Lisa M
LM
Sutcliffe
Michaela
M
D019943:Amino Acid Substitution; D000740:Anemia / Q000209:etiology* / Q000235:genetics; D005192:Family Health; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010154:Pakistan; D021241:Spectrometry, Mass, Electrospray Ionization; D006113:United Kingdom; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C523161:hemoglobin Leeds; D005914:Globins