Abstract:
: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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Jiang H,Yan JM,Li J,Xie XM,Li DZdoi
10.3109/03630269.2016.1169423subject
Has Abstractpub_date
2016-06-01 00:00:00pages
202-5issue
3eissn
0363-0269issn
1532-432Xjournal_volume
40pub_type
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