Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China.
Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia. Her diagnosis of unstable Hb Perth [β32(B14)Leu→Pro, HBB: c.98T > C] had not been made until gene sequencing of the β-globin gene was performed.
a Department of Hematology/Oncology , Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China and.
Hua
H
Jiang
b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China.
Jin-Mei
JM
Yan
b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China.
Jian
J
Li
b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China.
Xing-Mei
XM
Xie
b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China.
Dong-Zhi
DZ
Li
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D002681:China; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C092638:hemoglobin Perth-Abraham Lincoln
Hb Perth; Hemoglobinopathies; hemolytic anemia; unstable hemoglobin (Hb)