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A novel G6PD mutation leading to chronic hemolytic anemia
Author(s) -
McDade Jenny,
Abramova Tatiana,
Mortier Nicole,
Howard Thad,
Ware Russell E.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21715
Subject(s) - hemolysis , medicine , hemolytic anemia , pallor , mutation , anemia , haptoglobin , immunology , exon , jaundice , genetics , gene , biology
Abstract Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is an important cause of hemolytic anemia worldwide. Severely affected patients have chronic hemolysis with exacerbations following oxidative stress. Mutations causing severe chronic non‐spherocytic hemolytic anemia (CNSHA) commonly cluster in Exon 10, a region important for protein dimerization. An African‐American male presented at age 2 weeks with pallor and jaundice, and was found to have hemolytic anemia with G6PD deficiency. His severe clinical course was inconsistent with the expected G6PD A − variant. DNA sequencing revealed two common mutations (A − ) and a third novel Exon 10 mutation. This inherited haplotype represents a novel triple G6PD coding mutation causing chronic hemolysis. Pediatr Blood Cancer 2008;51:816–819. © 2008 Wiley‐Liss, Inc.