Hereditary pyropoikilocytosis and the spectrin St. Claude allele [1]

British Journal of Haematology

Volumn 124, Issue 2, 2004, Pages 251-252

  Mootien, S ^a   Gallagher, Patrick G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Modifier allele; Mutation; Pyropoikilocytosis; Spectrin

Indexed keywords

FODRIN; GENOMIC DNA; SPECTRIN;

AFRICAN AMERICAN; ALLELE; CLINICAL ARTICLE; ELLIPTOCYTOSIS; ERYTHROCYTE; GENE AMPLIFICATION; GENETIC DISORDER; HEAT SENSITIVITY; HEMOLYSIS; HEMOLYTIC ANEMIA; HEREDITARY PYROPOIKILOCYTOSIS; HUMAN; LETTER; MORPHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AFRICAN AMERICANS; ELLIPTOCYTOSIS, HEREDITARY; HUMANS; MUTATION; PASSIVE CUTANEOUS ANAPHYLAXIS; SPECTRIN;

EID: 1642499106     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04748.x     Document Type: Letter

References (7)

1. LELY allele. Acta Haematologica, 100, 32-38.
2. Coetzer, T., Palek, J., Lawler, J., Liu, S.C., Jarolim, P., Lahav, M., Prchal, J.T., Wang, W., Alter, B.P. & Schewitz, G. (1990) Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood, 75, 2235-2244.
3. Delaunay, J. & Dhermy, D. (1993) Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. Seminars in Hematology, 30, 21-33.
4. Fournier, C.M., Nicolas, G., Gallagher, P.G., Dhermy, D., Grandchamp, B. & Lecomte, M.C. (1997) Spectrin St. Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia. Blood, 89, 4584-4590.
5. LELY allele. Blood, 84, 1686-1687.
6. Tse, W.T. & Lux, S.E. (1999) Red blood cell membrane disorders. British Journal of Haematology, 104, 2-13.
7. Walensky, L.D., Narla, M. & Lux, S.E. (2003) Disorders of the red blood cell membrane. In Blood: Principles and Practice of Hematology, 2nd edn. (ed. by R.I. Handin, S.E. Lux & T.P. Stossel), pp. 1709-1858. Lippincott Williams Wilkins, Philadelphia.