Open Access Medical Books



Edited by Angelika Batorova .

140 pages . 
Open Access . 

Hemophilia is one of the longest known diseases in the history of medicine with a first description as a hereditary bleeding disorder in Talmud as early as the second century AD. However, it took many centuries until the start of modern history of disease which dates from the beginning of the 20th century. Expansion of the knowledge on the pathophysiology of the blood coagulation led to discovery of the lack of factor VIII or factor IX as a cause of the disease. The development of the blood transfusion medicine was the main prerequisite for the introduction of effective treatment of bleeding, which resides in the replacement of the missing coagulation factors. In the course of the last century, severe hemophilia has changed from potentially fatal disease having a life expectancy of only 11 years to a well treatable bleeding disorder with a life expectancy now almost approaching the value of the general population.
Significant progress towards optimum management of the disease has been achieved over the last decades, including the specialized multidisciplinary comprehensive care, home therapy and prophylaxis, employment of safe viraly inactivated plasma derived factor concentrates and most recently expanding use of recombinant factor VIII/IX concentrates. The quality of life of persons with hemophilia has dramatically improved, enabling their full implementation in professional and social life.
Major advances have been achieved in the field of molecular biology of hemophilia, which were succesfully implemented into a clinical practice, including genetic counselling, detection of hemophilia carriers, prenatal diagnosis as well as the study of genotype -phenotype relationships. Despite promising advances in genetic bioengineering the definite cure of the hemophilia is not yet available and an effective treatment requires frequent injections of factor VIII/IX concentrates. Due to this fact the research has currently focused on the development of factor VIII/IX products with prolonged biological efficacy.
There are still many challenging issues in the field of hemophilia, some of them have been discussed in the articles presented in this book. Comprehensive molecular diagnosis of hemophilia is demanding and still not widely available in many countries. However, the articles in this book demonstrate the advances in this field achieved in the research laboratories from different regions of the world. The issue of viral infections from previous era of hemophilia therapy is still actual in older generation of hemophiliacs. The value of HCV genotyping in peripheral blood mononuclear cells for the prediction of the response to antiviral therapy in HCV infected patients with hemophilia has been discussed. In the present era of availability of safe products for the treatment of hemophilia, the development of inhibitory antibodies against factors FVIII and IX is the most challenging complication of hemophilia, requiring an alternative hemostatic therapy. This issue has been discussed in the articles on inhibitors, including the presentation of novel bypassing agent under the development. Another important issue is increasing age of hemophilia population, which has brought new requirements for the management of the health problems typical for the older adult age, especially cardiovascular, systemic and malignant diseases. The main aspects of hemophilia ageing as well as a need and/or feasibility of prophylaxis in adults has also been discussed.

This book demonstrates the great efforts aimed at further improving the care of the hemophilia, which may bring further improvement in the quality of life of hemophilia persons and their families.
I would like to thank all contributors, and especially to Marija Radija for her outstanding assistance in the compillation of this book.

Angelika Batorova
Medical Director of the National Hemophilia Centre and Hemostasis and Thrombosis
Unit of the Department of Hematology and Transfusion Medicine
University Hospital, Bratislava



 1 Profiling of Mutations in the F8 and F9, Causative Genes of Hemophilia A and Hemophilia B 3 Sung Ho Hwang, Hee-Jin Kim and Hye Sun Kim

 2 Genotype-Phenotype Interaction Analyses in Hemophilia 15 Ana Rebeca Jaloma-Cruz, Claudia Patricia Beltrán-Miranda, Isaura Araceli González-Ramos, José de Jesús López-Jiménez, Hilda Luna-Záizar, Johanna Milena Mantilla-Capacho, Jessica Noemi Mundo-Ayala and Mayra Judith Valdés Galván

 3 From Genotype to Phenotype – When the Parents Ask the Question 33 Rumena Petkova, Stoian Chakarov and Varban Ganev

 4 Population Evolution in Hemophilia 51 Myung-Hoon Chung

 5 Hemophilia Inhibitors Prevalence, Causes and Diagnosis 67 Tarek M. Owaidah

 6 Prospective Efficacy and Safety of a Novel Bypassing Agent, FVIIa/FX Mixture (MC710) for Hemophilia Patients with Inhibitors 79 Kazuhiko Tomokiyo, Yasushi Nakatomi, Takayoshi Hamamoto and Tomohiro Nakagaki

 7 Mixed Genotypes in Hepatitis C Virus Infection 97 Patricia Baré and Raúl Pérez Bianco

 8 Characteristics of Older Patient with Haemophilia 111 Silva Zupančić Šalek, Ana Boban and Dražen Pulanić

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