PMID: 11318798Apr 25, 2001Paper

Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family

Clinical and Laboratory Haematology
D DhermyB Grandchamp

Abstract

We studied a recessive hereditary spherocytosis (HS) family from Norway in which all four children had haemolytic spherocytosis while spectrin (Sp) deficiency was detected in the proband. Molecular analysis demonstrated that all affected children had inherited the low expression alpha-Sp allele LEPRA (Low Expressed PRAgue) from the father. Haplotyping with a polymorphic dinucleotide repeat for the alpha-Sp gene (alphaVNTR) located in the 3' untranslated region of mRNA showed that all recessive children had inherited the same maternal alpha-spectrin allele. The paternal Sp-alphaLEPRA allele was found in cis of the polymorphic alpha-Sp Bughill allele (alphaBH) characterized by the A970D point mutation in the Sp alpha-chain. This mutation was identified on two-dimensional electrophoresis of Sp tryptic digests as an acidic shift of the alphaII tryptic domains (spots alphaIIa). Analyses of the relative expression of the paternal alpha-Sp Bughill polymorphism in the proband showed that the product of the maternal alpha-Sp gene is almost completely absent from the mature erythrocyte membrane. Comparative analysis between alphaVNTR PCR-amplified from genomic DNA and from cDNA showed that the maternal low expression alpha-Sp allele is a...Continue Reading

References

Dec 1, 1975·Proceedings of the National Academy of Sciences of the United States of America·Y W KanH E Varmus
Sep 1, 1992·Biophysical Journal·K SvobodaS M Block
Apr 1, 1993·Immunology Today·F Balkwill
Nov 15, 1996·The Journal of Clinical Investigation·H WichterleP Jarolim
Feb 21, 1998·The Journal of Pediatrics·E Miraglia del GiudiceS Perrotta

❮ Previous
Next ❯

Citations

May 15, 2013·Blood Reviews·Lydie Da CostaNarla Mohandas
Aug 4, 2004·British Journal of Haematology·P H B Bolton-MaggsUNKNOWN General Haematology Task Force of the British Committee for Standards in Haematology
Nov 8, 2011·British Journal of Haematology·Paula H B Bolton-MaggsUNKNOWN General Haematology Task Force of the British Committee for Standards in Haematology
Mar 20, 2015·International Journal of Laboratory Hematology·M-J KingUNKNOWN International Council for Standardization in Haematology
May 30, 2006·Blood Reviews·Jean Delaunay
May 1, 2019·The Journal of Clinical Investigation·Patrick G GallagherVincent P Schulz
May 22, 2020·British Journal of Haematology·Soumitra ToleManuel D Carcao

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.