On familial deafness observed in hereditary elliptocytosis patient.

The 4.1.(-) hereditary elliptocytosis.

Abnormal spectrin in hereditary elliptocytosis.

An abnormal alpha subunit of erythrocyte spectrin has been described in hereditary pyropoikilocytosis (HPP), a rare hemolytic anemia characterized by erythrocyte budding and fragmentation. In HPP spectrin, the N terminal domain of the alpha subunit (alpha I T80) shows increased susceptibility to tryptic digestion, resulting in cleavage to a 50,000-d peptide, presumably due to a change in primar...

Erythrocyte deformability and hereditary elliptocytosis.

Hereditary elliptocytosis (HE) is a hereditary membranopathy that comprises a heterogeneous group of diseases, which share irreversible erythrocyte elongation with a prolonged longitudinal diameter in relation to the cross-section (elliptocytes and ovalocytes), which acts as a morphological sign to guide diagnosis. It is characterised by certain molecular alterations to cytoskeleton proteins, s...

Molecular heterogeneity of hereditary elliptocytosis in Italy.

BACKGROUND Common HE is the most prevalent clinical form of hereditary elliptocytosis; its clinical findings vary considerably, ranging from an asymptomatic carrier state to a severe, even life-threatening hemolytic disorder. Structural modification and reduction of 4.1 protein, or abnormalities at the spectrin self-association site could lead to elliptocytes. METHODS Sixty-one Italian HE pat...

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. Th...