Diagnostic challenges posed by a rare unstable hemoglobin variant Hb Southampton [HBB: c.320T → C] with pyrimidine 5′ nucleotidase deficiency and the response to HU therapy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference9 articles.
1. Hb Southampton [β 106(G8) Leu→PRO, CTG→CCG] in a Uruguayan woman;Pereira;Rev. Bras. Hematol. Hemoter.,2013
2. Hemoglobin Southampton complicated by cerebral ischemia, moyamoya, and hydroxyurea-induced methemoglobinemia;Boucher;Am. J. Hematol.,2019
3. Hb Southampton [β106(G8) Leu→Pro; HBB: c.320T>C] and codons 41/42 (–TTCT; HBB: c.124_127delTTCT) in a Chinese girl;Liu;Hemoglobin,2017
4. Hemoglobin E and pyrimidine 5' nucleotidase deficiency;Nadkarni;Blood,1997
5. Hb Southampton [β106 (G8)Leu→Pro, CTG→CCG] in an Argentinean boy;Eandi Eberle;Hemoglobin,2006
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