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Clinical manifestations and diagnosis of hemophilia

INTRODUCTION

Hemophilia A and B are X-linked recessive diseases that present in male children of carrier females. However, hemophilia must sometimes be differentiated from other bleeding disorders when the family history is negative or unknown. Differentiation between hemophilia and other conditions, such as some types of von Willebrand disease or acquired factor inhibitors, and distinction between hemophilia A and B are crucial for appropriate management.

The clinical manifestations and diagnosis of hemophilia A and B will be reviewed here, along with a discussion of obstetrical issues. Other topic reviews on hemophilia are presented separately.

Management – (See "Treatment of hemophilia" and "Factor VIII and factor IX inhibitors in patients with hemophilia".)

Genetics and biology – (See "Genetics of the hemophilias" and "Biology and normal function of factor VIII and factor IX".)

An approach to the diagnostic evaluation of a patient with unexplained bleeding is also presented separately. (See "Easy bruising" and "Approach to the child with bleeding symptoms" and "Approach to the adult patient with a bleeding diathesis".)

                                   

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Literature review current through: Nov 2014. | This topic last updated: Nov 11, 2014.
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