Hereditary elliptocytosis
Iyori, H.; Akatsuka, J.
Nihon Rinsho. Japanese Journal of Clinical Medicine 54(9): 2484-2491
1996
ISSN/ISBN: 0047-1852 PMID: 8890583 Document Number: 462921
Recently a number of different red cell membrane skeletal abnormalities have been identified in patients with hereditary elliptocytosis (HE). In Japanese patients with HE, most of skeletal abnormality was protein 4.1 abnormalities. alpha-spectrin abnormality was found only one lineage in Japan, in spite of these abnormalities were most common abnormalities in western countries. On the contrary beta-spectrin abnormalities were found in two lineages, in spite of these abnormalities were rare abnormalities in western countries. The other abnormalities, such as band 3 abnormalities and glycophrin abnormalities, were found in HE. We described here about clinical features and above mentioned abnormalities of red cell membrane skeleton in HE.