Elliptocytosis associated with an abnormal alpha glycophorin.
A case of elliptocytosis associated with an undescribed abnormal alpha glycophorin (alpha GP) is reported. Using immunoblotting techniques, a clear-cut minor band 6' was detected emerging just behind the monomer of delta GP (band 6) when probed with anti-alpha GP antiserum. It also reacted with anti-peptide C antiserum, suggesting that this new band with a molecular weight of 24 K is related to the structural alteration of alpha GP and not delta GP. The erythrocyte membrane proteins of the patient exhibited a quite normal pattern, with a normal alpha spectrin/beta spectrin ratio, but the reaction with anti-protein 4.1 serum confirmed the increase in proteolytic susceptibility of her protein 4.1. The results of DNA mapping implied that the abnormality may be due to a short deletion of the heterozygote. The significance of deviation involving the alpha GP and protein 4.1 to the elliptocytic change of erythrocyte shape is briefly discussed.
Lu
Y Q
YQ
Department of Biochemistry, Hunan Medical University, Changsha, People's Republic of China.
Liu
J F
JF
Huang
C H
CH
Blumenfeld
O O
OO
Schwartz
R S
RS
Lawrence
C
C
Nagel
R L
RL
D000368:Aged; D000369:Aged, 80 and over; D003598:Cytoskeletal Proteins; D004612:Elliptocytosis, Hereditary / Q000150:complications* / Q000378:metabolism; D004910:Erythrocyte Membrane / Q000737:chemistry; D004912:Erythrocytes / Q000737:chemistry; D005260:Female; D006021:Glycophorins / Q000032:analysis* / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000032:analysis / Q000097:blood; D008855:Microscopy, Electron, Scanning; D009479:Neuropeptides; D015183:Restriction Mapping
D003598:Cytoskeletal Proteins; D006021:Glycophorins; D008565:Membrane Proteins; D009479:Neuropeptides; C028841:erythrocyte membrane band 4.1 protein; C120557:erythrocyte membrane protein band 4.1-like 1