Disease name: Haemophilia B / Hereditary factor IX deficiency

ICD-10 Disease Code: D67 - Hereditary factor IX deficiency

ICD-10 Disease Group: D65-D69 - Coagulation defects, purpura and other hemorrhagic conditions

Haemophilia B, also known as inherited factor IX deficiency, is a rare haematological disorder caused by a lack of the blood clotting factor IX. The process known as the coagulation cascade involves several coagulations or clotting factors, and the absence or malfunction of one of these factors can lead to excessive bleeding. Haemophilia B is the result of the body not making enough factor IX; this results in spontaneous or prolonged blood haemorrhages due to an inability to coagulate bleeding. 

Haemophilia is an inherited X-linked recessive trait, with the responsible variant located on the X chromosome. For this reason, the majority of individuals with haemophilia B are male. Females with the variant are carriers of the disease. 

Symptoms typically manifest in young infants, but some newborns with haemophilia can be at risk of bleeding complications.

Haemophilia B is caused by mutations in the F9 gene encoding coagulation factor IX.

Prevalence is estimated at around 1 in 30,000 males. A milder form of haemophilia B has been described in female carriers.

Symptoms typically manifest in early childhood when children begin to walk. The severity of the clinical manifestations can vary and depends on the extent of the factor IX deficiency, with milder forms sometimes going unnoticed until later in life.

Prolonged bleeding is the primary symptom. Other symptoms include pain and swelling in joints from bleeding into joints, blood in the urine or stool, abnormal bruising, gastrointestinal tract and urinary tract bleeding, unusual or spontaneous nosebleeds, prolonged bleeding from cuts or from surgery, and bleeding that starts spontaneously without a known cause.

Patients may receive factor IX replacement therapy to replace the missing clotting factor. To prevent bleeding crises individuals may take factor IX concentrates at the first sign of bleeding. People with severe forms may need to take regular factor IX concentrates. Individuals with this disease are also advised to get the hepatitis B vaccine as they are more susceptible to hepatitis B through receiving many blood products. In some severe cases individuals build up antibodies against factor IX and a synthetic clotting factor called VIIa may be administered.

• https://www.icd10data.com/
• https://www.orpha.net/consor/cgi-bin/index.php
• https://rarediseases.org/
• https://medlineplus.gov/genetics/
• https://www.cdc.gov/

Tags

Haemophilia B / Hereditary factor IX deficiency