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  • Title: A case of G6PD Utrecht associated with β-thalassemia responding to splenectomy.
    Author: Yang K, Liu X, Chen K, Luo S, Kong W, Huang W, Xiao J.
    Journal: Pediatr Blood Cancer; 2022 Sep; 69(9):e29837. PubMed ID: 35695473.
    Abstract:
    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disease caused by a pathogenic G6PD mutation. An 8-year-old Chinese male child was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Genetic analysis unraveled co-inheritance of a hemizygous mutation c.1225C>T (p.Pro409Ser) in G6PD (G6PD Utrecht, previously reported only in The Netherlands) and heterozygote HBB mutation c.316-197C>T (IVS-Ⅱ-654 C>T). Because IVS-Ⅱ-654 C>T on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the G6PD c.1225C>T mutation. The boy gained transfusion independence after splenectomy.
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