TY - JOUR
T1 - Hb sheffield [β58(E2)pro→his] in Oman
T2 - Potential pitfall in genetic counseling
AU - Al Zadjali, Shoaib
AU - Daar, Shahina
AU - Alkindi, Salam
AU - Gravell, David
AU - Al Haddabi, Hamood
AU - Berbar, Tsouria
AU - Krishnamoorthy, Rajagopal
PY - 2011/4
Y1 - 2011/4
N2 - A novel β-globin structural variant, namely Hb Sheffield [β58(E2)Pro→His], was recently found as a sporadic event in a British Subject and posted to the HbVar database (ID 2672). Here we describe the same variant in 11 Omani subjects in the heterozygous state and in one Omani woman in compound heterozygosity with Hb S [β6(A3)Glu→Val]. Hb Sheffield coelutes in the Hb A2 window in the high performance liquid chromatography (HPLC) system as does Hb E [β26(B8)Glu→Lys], and might be erroneously diagnosed as Hb E unless additional tests including DNA analyses are done. Indeed, correct diagnosis of Hb E is important because of its association with other β-thalassemic and variant alleles can result in relevant clinical conditions, while Hb Sheffield will not. In a genetic (premarital) counseling setting, and in regions where both Hb E ad Hb Sheffield are present, failure to distinguish these variants will represent a serious pitfall.
AB - A novel β-globin structural variant, namely Hb Sheffield [β58(E2)Pro→His], was recently found as a sporadic event in a British Subject and posted to the HbVar database (ID 2672). Here we describe the same variant in 11 Omani subjects in the heterozygous state and in one Omani woman in compound heterozygosity with Hb S [β6(A3)Glu→Val]. Hb Sheffield coelutes in the Hb A2 window in the high performance liquid chromatography (HPLC) system as does Hb E [β26(B8)Glu→Lys], and might be erroneously diagnosed as Hb E unless additional tests including DNA analyses are done. Indeed, correct diagnosis of Hb E is important because of its association with other β-thalassemic and variant alleles can result in relevant clinical conditions, while Hb Sheffield will not. In a genetic (premarital) counseling setting, and in regions where both Hb E ad Hb Sheffield are present, failure to distinguish these variants will represent a serious pitfall.
KW - Hb E
KW - Hb S
KW - Hb Sheffield
KW - Oman
KW - β-Globin variant
UR - http://www.scopus.com/inward/record.url?scp=79952951789&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79952951789&partnerID=8YFLogxK
U2 - 10.3109/03630269.2011.558226
DO - 10.3109/03630269.2011.558226
M3 - Article
C2 - 21417567
AN - SCOPUS:79952951789
SN - 0363-0269
VL - 35
SP - 111
EP - 116
JO - Hemoglobin
JF - Hemoglobin
IS - 2
ER -