Hemostatic investigations performed in the investigation of bleeding phenotype for case 1
| Test . | Results . | Repeat testing . | Normal reference range . |
|---|---|---|---|
| Hemoglobin, g/dL | 13.7 | 11.5-16.4 | |
| MCV, fL | 95.3 | 83-98 | |
| MCH, pg | 30.9 | 26.7-32.5 | |
| Platelets, ×109/L | 250 | 140-400 | |
| Ferritin, μg/L | 8.0 | 20-300 | |
| TSH, mU/L | 1.79 | 0.45-3.5 | |
| T3, nmol/L | 1.4 | 1.2-2.5 | |
| Free T4, pmol/L | 11.3 | 9-21 | |
| Routine coagulation | |||
| APTT, s | 34 | 24-36 | |
| PT, s | 11.8 | 9.7-12.8 | |
| Fibrinogen, g/L | 3.0 | 2.2-4.3 | |
| VWF assays, IU/dL | |||
| VWF:Ag | 38 | 40 | 50-173 |
| VWF:RCo | 36 | 37 | 50-156 |
| VWF:CB | 40 | 39 | 50-150 |
| Coagulation factors, IU/dL | |||
| Factor II | 122 | 72-131 | |
| Factor V | 131 | 63-133 | |
| Factor VII | 107 | 51-154 | |
| Factor X | 105 | 64-150 | |
| Factor VIII | 69 | 60-136 | |
| Factor IX | 119 | 57-189 | |
| Factor XI | 87 | 72-152 | |
| Factor XIII | 80 | 73-160 | |
| Platelet aggregometry | |||
| Adrenaline, 10 μM | Normal response | ||
| ADP, 2 μM | Normal response | ||
| Ristocetin, 1.25 mg | Normal response | ||
| Ristocetin, 0.5 mg | No response | ||
| Arachidonic acid, 1 μM | Normal response | ||
| Platelet nucleotides, nmol/108platelets | |||
| Platelet ATP | 6.1 | 3.5-6.8 | |
| Platelet ADP | 3.3 | 2.1-4.5 | |
| Total nucleotides | 9.4 | 5.6-11.3 | |
| Ratio | 1.8 | 1.1-2.1 |
| Test . | Results . | Repeat testing . | Normal reference range . |
|---|---|---|---|
| Hemoglobin, g/dL | 13.7 | 11.5-16.4 | |
| MCV, fL | 95.3 | 83-98 | |
| MCH, pg | 30.9 | 26.7-32.5 | |
| Platelets, ×109/L | 250 | 140-400 | |
| Ferritin, μg/L | 8.0 | 20-300 | |
| TSH, mU/L | 1.79 | 0.45-3.5 | |
| T3, nmol/L | 1.4 | 1.2-2.5 | |
| Free T4, pmol/L | 11.3 | 9-21 | |
| Routine coagulation | |||
| APTT, s | 34 | 24-36 | |
| PT, s | 11.8 | 9.7-12.8 | |
| Fibrinogen, g/L | 3.0 | 2.2-4.3 | |
| VWF assays, IU/dL | |||
| VWF:Ag | 38 | 40 | 50-173 |
| VWF:RCo | 36 | 37 | 50-156 |
| VWF:CB | 40 | 39 | 50-150 |
| Coagulation factors, IU/dL | |||
| Factor II | 122 | 72-131 | |
| Factor V | 131 | 63-133 | |
| Factor VII | 107 | 51-154 | |
| Factor X | 105 | 64-150 | |
| Factor VIII | 69 | 60-136 | |
| Factor IX | 119 | 57-189 | |
| Factor XI | 87 | 72-152 | |
| Factor XIII | 80 | 73-160 | |
| Platelet aggregometry | |||
| Adrenaline, 10 μM | Normal response | ||
| ADP, 2 μM | Normal response | ||
| Ristocetin, 1.25 mg | Normal response | ||
| Ristocetin, 0.5 mg | No response | ||
| Arachidonic acid, 1 μM | Normal response | ||
| Platelet nucleotides, nmol/108platelets | |||
| Platelet ATP | 6.1 | 3.5-6.8 | |
| Platelet ADP | 3.3 | 2.1-4.5 | |
| Total nucleotides | 9.4 | 5.6-11.3 | |
| Ratio | 1.8 | 1.1-2.1 |
ADP, adenosine diphosphate; APTT, activated partial thromboplastin time; ATP, adenosine triphosphate; MCH, mean corpuscular hemoglobin; MCV, mean corpuscular volume; PT, prothrombin time; T3, triiodothyronine; T4, thyroxine; TSH, thyroid-stimulating hormone.