Hereditary elliptocytosis with variable expression and incomplete penetrance in a Chinese family

A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study

BACKGROUND Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium c...

The 4.1.(-) hereditary elliptocytosis.

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...

Heterozygous Beta-thalassemia in Association with Hereditary Elliptocytosis: a Family Study.

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...