Interactions between genotype and phenotype in bleeding and thrombosis.

نویسندگان

  • Massimo Franchini
  • Pier Mannuccio Mannucci
چکیده

The hemostatic balance is the result of an equilibrium between procoagulant and anticoagulant factors that interact with each other to ensure hemostasis at sites of vascular injury. Abnormalities of hemostatic factors due to defects in the corresponding genes can result in a tendency to hemorrhage or thrombosis. In the last few decades, the progressive identification of the mechanisms underlying coagulation disorders led to the awareness that clinical phenotypes are only rarely the result of single gene defects but are more often influenced by multiple factors. Interactions between different genes or between genes and other acquired factors may account for the phenotypic variability of most coagulation disorders, by improving or worsening their clinical manifestations.1 Examples of interactions between genotype and phenotype in both hemorrhagic and thrombotic disorders are given in this article.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Evaluation of Normal Range of Bleeding Scores in Healthy Iranian Adults using the International Society on Thrombosis and Hemostasis Bleeding Assessment Tool

Background: Bleeding assessment tools are key components in the evaluation of patients suspicious for bleeding disorders. The exact determination of the normal ranges of ISTH-BAT (International Society on Thrombosis and Hemostasis –Bleeding Assessment Tool) in the healthy population is a crucial step for determining who needs to be referred for further coagulation laboratory examinations. We ai...

متن کامل

kidd blood group genotyping in alloimmunized thallasemia patients

Abstract Background and Objectives Hemagglutination has limitations in identifying the phenotype of patients who have been recently transfused due to the presence of donor red cells (RBCs) in the patient’s circulation. Kidd blood group is one of the most important blood groups in transfusion medicine and related antibodies are responsible for one third of delayed haemolytic transfusion reactio...

متن کامل

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

متن کامل

Study of Kell blood group genotype in alloimmiunized thalassemia patients

Abstract Background and Objectives Alloimmunization is the most serious problem in thalassemia patients and Anti-K is the most prevalent antibody in these patients. So accurate identification of this antigen can significantly decrease the rate of alloimmunization. Serological phenotyping is usually not reliable in multi-transfused patients. Molecular genotyping can overcome limitations of hema...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 93 5  شماره 

صفحات  -

تاریخ انتشار 2008