Article
Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.
Haematologica - 1 Dec 2013
Swierczek Sabina, Agarwal Archana M, Naidoo Kubendran, Lorenzo Felipe R, Whisenant Jonathan, Nussenzveig Roberto H, Agarwal Neeraj, Coetzer Theresa L, Prchal Josef T
Abstract excerpt
Hereditary pyropoikilocytosis is a severe hemolytic anemia caused by spectrin deficiency and defective spectrin dimer self-association, typically found in African populations. We describe two Utah families of northern European ancestry including 2 propositi with atypical non-microcytic hereditary pyropoikilocytosis, 7 hereditary elliptocytosis members and one asymptomatic carrier. The underlying molecular defect...
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