Hereditary red cell membrane disorders and laboratory diagnostic testing

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

(2012) A. Iolascon et al.   HAEMATOLOGICA

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

(2011) J. F. Flatt et al.   BLOOD

Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update

(2011) Paula H. B. Bolton-Maggs et al.   BRITISH JOURNAL OF HAEMATOLOGY

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

(2011) P. Bianchi et al.   HAEMATOLOGICA

The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

(2010) H. Heimpel et al.   HAEMATOLOGICA

Hereditary stomatocytosis and cation leaky red cells — Recent developments

(2009) Lesley J. Bruce   BLOOD CELLS MOLECULES AND DISEASES

Red cell membrane: past, present, and future

(2008) N. Mohandas et al.   BLOOD

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

(2008) L. J. Bruce et al.   BLOOD

Hereditary spherocytosis

(2008) Silverio Perrotta et al.   LANCET