TY - JOUR
T1 - Hb Leeds [β56(D7)Gly→Cys]
T2 - A new hemoglobin that aggravates anemia in a child with β0-thalassemia trait
AU - Williams, Jonathan P.
AU - Scrivens, James
AU - Green, Brian N.
AU - Farrar, Lisa M.
AU - Sutcliffe, Michaela
PY - 2007/7/1
Y1 - 2007/7/1
N2 - □ A novel β chain variant found in combination with β0-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 β56(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 β0-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 β0-thal it led to a more severe anemia in the infant than in the corresponding thalassemic trait in his mother.
AB - □ A novel β chain variant found in combination with β0-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 β56(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 β0-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 β0-thal it led to a more severe anemia in the infant than in the corresponding thalassemic trait in his mother.
UR - http://www.scopus.com/inward/record.url?scp=34547218140&partnerID=8YFLogxK
U2 - 10.1080/03630260701459390
DO - 10.1080/03630260701459390
M3 - Article
C2 - 17654074
AN - SCOPUS:34547218140
SN - 0363-0269
VL - 31
SP - 367
EP - 373
JO - Hemoglobin
JF - Hemoglobin
IS - 3
ER -