RBC Membrane Disorders
Pathophysiology
Molecular basis of red cell membrane disorders.
Delaunay J.
Acta Haematol. 2002;108:210-218.
Description: This paper offers a detailed focus on the genetic mutations in key red cell membrane disorders, and their role in pathogenesis of disease.
PubMed citation number: 12432217
Update on the clinical spectrum and genetics of red blood cell membrane disorders.
Gallagher PG.
Curr Hematol Rep. 2004;3:85-91.
Description: An update on the pathogenesis of red blood cell membrane disorders, with particular focus on the role of recently discovered genetic defects.
PubMed citation number: 14965483
Review
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
Delauney J.
Semin Hematol. 2004;41:165-172.
Description: A review of this group of rare genetic disorders, with emphasis on classification, pathogenesis, diagnosis, and clinical syndromes.
PubMed citation number: 15071792
Red blood cell membrane defects.
Iolascon A, Perrota S, Stewart GW.
Rev Clin Exp Hematol. 2003;7:22-56.
Description: An overview of the molecular basis of red cell membrane disorders, with focus on the structure of the red cell membrane and pathophysiology and clinical aspects of its disorders .
PubMed citation number: 14692233
Guidelines for the diagnosis and management of hereditary spherocytosis.
Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ.
Br J Haematol. 2004;126:455-474.
Description: Updated guidelines on diagnosis and management of HS, including useful recommendations regarding screening, role of molecular genetic analysis, and monitoring/treatment of complications.
PubMed citation number: 15287938
Hereditary spherocytosis—defects in proteins that connect the membrane skeleton to the lipid bilayer.
Eber S, Lux SE.
Semin Hematol. 2004;41:118-141.
Description: A thorough and detailed review of the molecular basis and membrane protein defects in HS. PubMed Citation number: 15071790
Hereditary elliptocytosis: spectrin and protein 4.1R.
Gallagher PG.
Semin Hematol. 2004;41:142-164.
Description: Excellent review of the pathogenesis and clinical manifestations of hereditary elliptocytosis.
PubMed citation number: 15071791