Advertisement

Annals of Hematology

, Volume 65, Issue 2, pp 106–109 | Cite as

Elliptocytosis associated with an abnormal α glycophorin

  • Y. -Q. Lu
  • J. -F. Liu
  • C. -H. Huang
  • O. O. Blumenfeld
  • R. S. Schwartz
  • C. Lawrence
  • R. L. Nagel
Case Report

Summary

A case of elliptocytosis associated with an undescribed abnormal α glycophorin (αGP) is reported. Using immunoblotting techniques, a clear-cut minor band 6′ was detected emerging just behind the monomer of δGP (band 6) when probed with anti-α 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 αGP and not δGP. The erythrocyte membrane proteins of the patient exhibited a quite normal pattern, with a normal α spectrin/ Β 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 α GP and protein 4·1 to the elliptocytic change of erythrocyte shape is briefly discussed.

Keywords

Elliptocytosis Glycophorin Protein 4·1 Erythrocyte membrane 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Anstee DJ (1981) The blood group MNSs-active sialoglycoproteins. Semin Hematol 18: 13–31PubMedGoogle Scholar
  2. 2.
    Anstee DJ, Parsons SF, Ridgwell K, Tanner MJA, Merry AH, Thomson EE, Judson PA, Johnson P, Bates S, Fraser ID (1984) Two individuals with elliptocytic red cells apparently lack three minor erythrocyte membrane sialoglycoproteins. Biochem J 218: 615–619PubMedGoogle Scholar
  3. 3.
    Baklouti F, Marechal J, Morlé L, Alloisis N, Wilmotte R, Pothier B, Ducluzeau M-T, Kastally R, Delaunay J (1991) Occurrence of the αI 22 Arg→His (CGT→ CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. Br J Haematol 78: 108–113PubMedGoogle Scholar
  4. 4.
    Feddal S, Brunet G, Roda L, Chabanis S, Alloisio N, Morlé L, Ducluzeau M-T, Marechal J, Robert J-M, Benz EJ Jr, Delaunay J, Baklouti F (1991) Molecular analysis of hereditary elliptocytosis with reduced protein 4·1 in the French Northern Alps. Blood 78: 2113–2119PubMedGoogle Scholar
  5. 5.
    Huang CH, Johe K, Moulds JJ, Siebert PD, Fukuda M, Blumenfeld OO (1987) δ Glycophorin (glycophorin B) gene deletion in two individuals homozygous for the S-s-U-blood group phenotype. Blood 70: 1830–1835PubMedGoogle Scholar
  6. 6.
    Huang CH, Guizzo ML, Kikuchi M, Blumenfeld OO (1989) Molecular genetic analysis of a hybrid gene encoding Sta glycophorin of the human erythrocyte membrane. Blood 74: 836–843PubMedGoogle Scholar
  7. 7.
    Kudo S, Fukuda M (1990) Identification of a novel human glycophorin, glycophorin E, by isolation of genomic clones and complementary DNA clones utilizing polymerase chain reaction. J Biol Chem 265: 1102–1110PubMedGoogle Scholar
  8. 8.
    Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wuchtel SS, Miller OJ, Breg WR, Jones HW, Rary JM (1977) Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74: 1245–1249PubMedGoogle Scholar
  9. 9.
    Lambert S, Conboy J, Zail S (1988) A molecular study of heterozygous protein 4·1 deficiency in hereditary elliptocytosis. Blood 72: 1926–1929PubMedGoogle Scholar
  10. 10.
    Lu YQ, Nichols ME, Bigbee WL, Nagel RL, Blumenfeld OO (1987) Structural polymorphism of glycophorins demonstrated by immunoblotting techniques. Blood 69: 618–624PubMedGoogle Scholar
  11. 11.
    McGuire M, Smith BL, Agre P (1988) Distinct variants of erythrocyte protein 4·1 inherited in linkage with elliptocytosis and Rh type in three white families. Blood 72: 287–293PubMedGoogle Scholar
  12. 12.
    Palek J (1985) Hereditary elliptocytosis and related disorders. Clin Haematol 14: 45–87PubMedGoogle Scholar
  13. 13.
    Siebert PD, Fukuda M (1986) Isolation and characterization of human glycophorin A cDNA clones by a synthetic oligonucleotide approach: nucleotide sequence and mRNA structure. Proc Natl Acad Sci USA 83: 1665–1669PubMedGoogle Scholar
  14. 14.
    Telen MJ, Kim CLV, Chung A, Cartron J-P (1991) Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. Blood 78: 1603–1606PubMedGoogle Scholar
  15. 15.
    Tse WT, Gallagher PG, Pothier B, Costa FF, Scarpa A, Delaunay J, Forget BG (1991) An insertional frameshift mutation of Β-spectrin gene associated with elliptocytosis in spectrin Nice (Β 220/216). Blood 78: 517–523PubMedGoogle Scholar
  16. 16.
    Tyler JM, Hargreaves WR, Branton D (1979) Purification of two spectrin-binding proteins: biochemical and electron-microscopic evidence for site-specific reassociation between spectrin and band 2·1 and 4·1. Proc Natl Acad Sci USA 76: 5192–5196PubMedGoogle Scholar
  17. 17.
    Vignal A, Rahuel C, London J, Cherifzahar B, Schaff S, Hattab C, Okubo Y, Cartron J-P (1990) A novel gene member of the human glycophorin A and B gene famiy — molecular cloning and expression. Eur J Biochem 191: 619–625PubMedGoogle Scholar
  18. 18.
    Weber K, Osborn M (1969) The reliability of molecular weight determination by dodecyl sulfate-polyacrylamide gel electrophoresis. J Biol Chem 244: 4406–4412PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Y. -Q. Lu
    • 1
  • J. -F. Liu
    • 1
  • C. -H. Huang
    • 2
  • O. O. Blumenfeld
    • 4
  • R. S. Schwartz
    • 3
  • C. Lawrence
    • 3
  • R. L. Nagel
    • 3
  1. 1.Department of BiochemistryHunan Medical UniversityHunanPeople's Republic of China
  2. 2.Laboratory of Molecular BiologyHunan Medical UniversityChangshaPeople's Republic of China
  3. 3.Division of Hematology, Department of MedicineAlbert Einstein College of MedicineBronxUSA
  4. 4.Department of BiochemistryAlbert Einstein College of MedicineBronxUSA

Personalised recommendations