Case report
Factor IX deficiency (Christmas disease)

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Introduction

Hemophilia B is the second most common type of hemophilia.1, 2 It is also known as factor IX deficiency, or Christmas disease. It was originally named “Christmas disease” after the first person diagnosed with the disorder back in 1952. Hemophilia A is 7 times more common than hemophilia B, occurring in about 1 in 25,000 male births in US and 1 in 30,000–60,000 in India.3, 4 All races and economic groups are affected equally. Hemophilia B is inherited as an X-linked recessive disorder, where males are affected, with females being carriers.

Here we present a case that manifested with adult onset spontaneous gastrointestinal and gingival bleeding at 32 years of age.

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Case report

A 32-year-old male presented with obscure gastrointestinal bleed, pain abdomen, vomiting, hematemesis and melena of 4 years duration. These symptoms were intermittent and were happening once or twice per month. There was history of easy fatigability. There were few episodes of bleeding from gums which were spontaneous, but there was no history of purpuric spots, bleeding from deep tissues and joint bleeding. For these symptoms the patient was managed initially in a local hospital with repeated

Discussion

Factor IX deficiency (hemophilia B) is a hereditary blood coagulation disorder. Females with one defective factor IX gene are carriers (they don't have symptoms). In women who are carriers, their male babies have a 50% chance of having the disease, while their female babies have a 50% chance of being a carrier. It is caused by a deficiency of a blood plasma protein called factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.2, 5 There are several types of

Conflicts of interest

All authors have none to declare.

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Available online 15 August 2012

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