Haemophilia A and haemophilia B: molecular insights
- Correspondence to: D J Bowen, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff CF3 0DQ, South Wales, UK; bowendj1{at}cf.ac.uk
- Accepted 10 May 2001
Abstract
This review focuses on selected areas that should interest both the scientist and the clinician alike: polymorphisms within the factor VIII and factor IX genes, their linkage, and their ethnic variation; a general assessment of mutations within both genes and a detailed inspection of the molecular pathology of certain mutations to illustrate the diverse cause–effect relations that exist; a summary of current knowledge on molecular aspects of inhibitor production; and an introduction to the new areas of factor VIII and factor IX catabolism. An appendix defining various terms encountered in the molecular genetics of the haemophilias is included, together with an appendix providing accession numbers and locus identification links for accessing gene and sequence information in the international nucleic acid databases.
- ARE, androgen response element
- C/EBP, CCAAT/enhancer binding protein
- EGF, epidermal growth factor
- LD, long distance
- LRP, lipoprotein receptor related protein
- MHC, major histocompatibility complex
- PCR, polymerase chain reaction
- RFLP, restriction fragment length polymorphism
- SNP, single nucleotide polymorphism
- VNTR, variable number tandem repeat sequence
Footnotes
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Correction
Haemophilia A and haemophilia B: molecular insights.Bowen DJ. Mol Pathol 2002;55:1–18.
Owing to an error in the electronic processing of this paper, figures 4 and 11 were incorrect. Because this was entirely the fault of the journal and not the author this paper is being republished in full. When citing this paper please use the new page numbers.
