3B11/D67 Hereditary factor IX deficiency



Hereditary factor IX deficiency is a genetic condition caused by a mutation in the gene responsible for producing coagulation factor IX, which is necessary for normal clotting. It is inherited in an autosomal recessive pattern, which means that both parents must carry the mutated gene in order for the child to be affected.


Diagnosis of hereditary factor IX deficiency is usually made through a combination of laboratory tests, including a complete blood count, prothrombin time (PT) and activated partial thromboplastin time (aPTT) tests, and a genetic test to confirm the presence of the mutated gene.

Differential diagnosis

Differential diagnosis for hereditary factor IX deficiency includes other types of bleeding disorders, such as hemophilia A or B, von Willebrand disease, and other rare genetic disorders.


Treatment of hereditary factor IX deficiency typically involves replacement therapy with factor IX concentrate or recombinant factor IX. This is usually given intravenously or subcutaneously depending on the severity of the condition.


The prognosis for individuals with hereditary factor IX deficiency is generally good with proper treatment. Most people with the condition are able to lead normal, healthy lives.

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