Table 1.
Coagulation factor deficiencies: genetics, severe symptoms and treatment options.
| Pattern of Inheritance | Deficientfactor | OMIM* Number | Prevalence in the Population | Gene (Chromosome) | Severe Clinical Symptoms | Treatment Options** |
|---|---|---|---|---|---|---|
| X-linked | factor VIII§ | 306700 | 1:5,000 | F8 (Xq28) | Hemarthrosis, Intracranical hemorrhage | pdFVIII, rFVIII, EHL-FVIII |
| factor IX§ | 306900 | 1:30,000 | F9 (Xq27.1) | Hemarthrosis, Intracranical hemorrhage | pdFIX, rFIX, EHL-FIX | |
| Autosomal | Fibrinogen | 202400 | 1:1,000,000 | FGA (4q31.3) | Thrombosis, Umbilical stump bleeding, Mucocutaneous bleeding | FFP, pd Fibrinogen |
| FGB (4q31.3) | ||||||
| FGG (4q32.1) | ||||||
| Prothrombin† | 613679 | 1:2,000,000 | F2 (11p11.2) | Mucosal bleeding, Hemarthrosis, Intracranical hemorrhage | FFP, PCC | |
| factor V | 227400 | 1:1,000,000 | F5 (1q24.2) | Epistaxis, Muscle hematoma | FFP | |
| factor VII†§ | 227500 | 1:500,000 | F7 (13q24) | Intracranical hemorrhage, Hemarthrosis | FFP, pdFVII, rFVIIa | |
| factor X† | 227600 | 1:1,000,000 | F10 (13q34) | Gastrointesinal bleeding, Intracranical hemorrhage | FFP, PCC, pdFX/FIX, pdFX | |
| factor XI | 612416 | 1:1,000,000 | F11 (4q35.2) | Post-trauma bleed | FFP, pdFXI | |
| factor XIII | 613225 | 1:2,000,000 | F13A (6q25.1) | Delayed wound healing, Intracranical hemorrhage, Miscarriages | FFP, pdFXIII, rFXIII-A | |
| 613235 | F13B (1q31.3) |
* OMIM, Online Mendelian Inheritance in Man (https://www.omim.org/); ** pd, plasma-derived; r, recombinant; EHL, enhanced half-life; FFP, fresh frozen plasma; PCC, prothrombin complex concentrate; † Factors whose complete deficiency is virtually incompatible with life; § Trials for gene therapy (excepting FVII deficiency, in which gene therapy has been characterized in animal models).