Recessively inherited coagulation disorders
Top Cited Papers
- 1 September 2004
- journal article
- review article
- Published by American Society of Hematology in Blood
- Vol. 104 (5) , 1243-1252
- https://doi.org/10.1182/blood-2004-02-0595
Abstract
Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined.Keywords
This publication has 100 references indexed in Scilit:
- Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutationsBlood, 2003
- Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterizedBlood, 2003
- Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complexNature Genetics, 2003
- Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 2003
- Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant proteinBlood, 2003
- Clinical manifestations in 28 Italian and Iranian patients with severe factor VII deficiencyHaemophilia, 1997
- Heart transplantation for end‐stage heart failure caused by iron overloadBritish Journal of Haematology, 1997
- Mutation in blood coagulation factor V associated with resistance to activated protein CNature, 1994
- Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulantsBritish Journal of Haematology, 1990
- Combined Factor V and Factor VIII Deficiency among Non-Ashkenazi JewsNew England Journal of Medicine, 1982