Abstract:
:Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature than those of his mother and sister, both having typical mild HE. Defective dimer-dimer association was present in all patients. Limited tryptic digestion of spectrin and subsequent analysis by one- and two-dimensional electrophoresis revealed a similar and reproducible decrease in the 80,000-dalton peptide (alpha I domain) and the concomitant appearance of a 46,000-dalton peptide. All the patients had the polymorphism of the spectrin alpha II domain commonly observed in black populations. In addition, modifications relative to the alpha III domain were detected; similar variants were found in one black control subject out of 136 and are likely related to a genetic polymorphism of the alpha III domain. No differences were observed between the peptide patterns in the infant with poikilocytosis and those of his HE sister and mother.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Lecomte MC,Dhermy D,Garbarz M,Feo C,Gautero H,Bournier O,Picat C,Chaveroche I,Ester A,Galand Cdoi
10.1007/BF00388462subject
Has Abstract,Author List Incompletepub_date
1985-01-01 00:00:00pages
351-7issue
4eissn
0340-6717issn
1432-1203journal_volume
71pub_type
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