Detection of Hb anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) in Chinese individuals.
We have identified four Chinese individuals from three unrelated families with raised Hb A2 levels. The anti-Lepore hybrid hemoglobin (Hb) variant was amplified using a pair of primers, 5' to the β-globin gene Cap site and 3' to the δ-globin gene polyadenylation site (polyA) region, respectively. Direct sequencing of the βδ fusion products confirmed the anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) variant. We found that this anti-Lepore variant is positioned in zone 3 on the capillary electrophoresis system. It may help in differential diagnosis of Hb variants and providing better information in clinical counseling.
Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital , Dongguan, Guangdong , People's Republic of China.
Ji-Wu
JW
Lou
Yi
Y
He
Yan-Hui
YH
Liu
Bai-Mao
BM
Zhong
Ying
Y
Zhao
Xiao-Xuan
XX
He
Dong-Zhi
DZ
Li
D000328:Adult; D002681:China; D004252:DNA Mutational Analysis; D019075:Electrophoresis, Capillary; D005192:Family Health; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011993:Recombinant Fusion Proteins / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D055546:delta-Globins / Q000235:genetics
D006455:Hemoglobins, Abnormal; D011993:Recombinant Fusion Proteins; D055544:beta-Globins; D055546:delta-Globins; C000593196:hemoglobin anti-Lepore Hong Kong; D006443:Hemoglobin A2