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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child.

A 2-year-old Sicilian boy was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Appropriate studies revealed deficiency of glucose-6-phosphate dehydrogenase type Seattle (G6PD Seattle). In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). Because G6PD Seattle on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the CDA type II abnormality. However, the coexistence of these two different red cell abnormalities may affect the clinical picture specifically by making CDA type II more hemolytic than it would have been otherwise.[1]

References

  1. Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child. Gangarossa, S., Romano, V., Miraglia del Giudice, E., Perrotta, S., Iolascon, A., Schiliro, G. Acta Haematol. (1995) [Pubmed]
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