Table 1 Classification (Orpha number), synonyms, prevalence and clinical description of hemophilia (Adapted from Orphanet portal [ http://www.orpha.net ])
From: Advanced therapies for the treatment of hemophilia: future perspectives
Type of hemophilia | Orpha number | Synonyms | Prevalence | Clinical description |
|---|---|---|---|---|
Hemophilia (general) | 448 | Factor VIII or IX deficiency | 7.7/100,000 | Bleeding episodes. |
Hemophilia A | 98878 | Factor VIII deficiency | 1/6,000 | Spontaneous or prolonged hemorrhages. |
Hemophilia B | 98879 | Factor IX deficiency | 1/30,000 | Spontaneous or prolonged hemorrhages. |
Mild hemophilia A | 169808 | Mild factor VIII deficiency | 40% of all cases of hemophilia A | Small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. The biological activity of factor VIII is between 5 and 40%. Spontaneous hemorrhages do not occur. |
Mild hemophilia B | 169799 | Mild factor IX deficiency | 30% of all cases of hemophilia B | Small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. The biological activity of factor IX is between 5 and 40%. Spontaneous hemorrhages do not occur. |
Moderately severe hemophilia A | 169805 | Moderately severe factor VIII deficiency | 20% of all cases of hemophilia A | Abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. The biological activity of factor VIII is between 1% and 5%. Spontaneous hemorrhages are rare. |
Moderately severe hemophilia B | 169796 | Moderately severe factor IX deficiency | 30% of all cases of hemophilia B | Abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. The biological activity of factor IX is between 1% and 5%. Spontaneous hemorrhages are rare. |
Severe hemophilia A | 169802 | Severe factor VIII deficiency | 40% of all cases of hemophilia A | Frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. The biological activity of factor VIII is below 1%. |
Severe hemophilia B | 169793 | Severe factor IX deficiency | 40% of all cases of hemophilia B | Frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. The biological activity of factor IX is below 1%. |
Symptomatic form of hemophilia A in female carriers | 177926 | Hemophilia A carriers | Unknown(very rare) | In some women with mutations in the F8 gene, encoding coagulation factor VIII. Symptoms include abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. The biological activity of factor VIII is below ~30%. |
Symptomatic form of hemophilia B in female carriers | 177929 | Hemophilia B carriers | Unknown (very rare) | In some women with mutations in the F9 gene, encoding coagulation factor IX. Symptoms include abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. The biological activity of factor IX is below ~30%. |