Clinical and laboratory characteristics of 3 patients from the 2 unrelated families
| Patient . | Pedigree A. II.1 . | Pedigree A. II.4 . | Pedigree B. II.2 . |
|---|---|---|---|
| Age, (y) | 45 | 37 | 38 |
| Sex | Male | Female | Male |
| Bleeding score, ISTH-BAT | 8 | 10 | 6 |
| Bleeding symptoms | Mucocutaneous (1), epistaxis (2), minor wounds (2) conjunctival and vitrectomy (3) | Mucocutaneous (1), epistaxis (2), dental extraction (2), menorrhagia (2), surgical hemostasis after ovarian cyst (3) | Mucocutaneous (2) and gastrointestinal (4) |
| Hemoglobin level, g/dL (N, 12-16 g/dL) | 12.1 | 11.5 | 13 |
| White blood cells (N, 3.8 × 109/L to 11 × 109/L) | 9.9 × 109/L | 3.5 × 109/L | 8.8 × 109/L |
| Neutrophils (N, 1.4 × 109/L to 6.5 × 109/L); | 5.1 × 109/L | 1.6 × 109/L | 5.6 × 109/L |
| Platelet count (N, 150 × 109/L to 450 × 109/L) | 12.7 × 109/L | 5.3 × 109/L | 17 × 109/L |
| MPV (fL) (N, 7.2-11.1 fL) | 17.4 | 19.2 | 20 |
| IPF, % (N, 1.1%-6.1%) | 76 | NA | 43 |
| Blood film (MPD) | Large: 14% Giant: 30% Grey: 54% | Large: 24% Giant: 48% Grey: 24% | Large: 16% Giant: 72% Grey: 8% |
| Bone marrow aspirate | Erythroid hyperplasia and increased MKs | Erythroid hyperplasia and increased MKs | Not done |
| Previous diagnosis | Immune thrombocytopenia | Immune thrombocytopenia | DiGeorge syndrome Grey platelet syndrome |
| Treatments | Corticosteroids Immunoglobulins Splenectomy | Corticosteroids Immunoglobulins | No |
| Red blood cells transfusions | Yes | Yes | Yes |
| Platelet transfusions | Yes | Yes | Yes |
| Additional symptoms: | Yes | Yes | Yes |
| Neurological | Mental retardation | Mental retardation | Mental retardation |
| Cardiovascular | Mitral valve prolapse and mitral insufficiency | Mitral valve prolapse and mitral insufficiency | Mitral valve prolapse and mitral insufficiency |
| Ophthalmological | Retinal disease Cataracts | Retinal disease Cataracts | No |
| Orthopedic | No | Hip dysplasia | Equine foot |
| Hepatic | Jaundice Hepatomegaly | Jaundice Hepatomegaly | Jaundice Hepatomegaly |
| The parents and other relatives in both families were asymptomatic and had normal platelet count and volume. | |||
| Patient . | Pedigree A. II.1 . | Pedigree A. II.4 . | Pedigree B. II.2 . |
|---|---|---|---|
| Age, (y) | 45 | 37 | 38 |
| Sex | Male | Female | Male |
| Bleeding score, ISTH-BAT | 8 | 10 | 6 |
| Bleeding symptoms | Mucocutaneous (1), epistaxis (2), minor wounds (2) conjunctival and vitrectomy (3) | Mucocutaneous (1), epistaxis (2), dental extraction (2), menorrhagia (2), surgical hemostasis after ovarian cyst (3) | Mucocutaneous (2) and gastrointestinal (4) |
| Hemoglobin level, g/dL (N, 12-16 g/dL) | 12.1 | 11.5 | 13 |
| White blood cells (N, 3.8 × 109/L to 11 × 109/L) | 9.9 × 109/L | 3.5 × 109/L | 8.8 × 109/L |
| Neutrophils (N, 1.4 × 109/L to 6.5 × 109/L); | 5.1 × 109/L | 1.6 × 109/L | 5.6 × 109/L |
| Platelet count (N, 150 × 109/L to 450 × 109/L) | 12.7 × 109/L | 5.3 × 109/L | 17 × 109/L |
| MPV (fL) (N, 7.2-11.1 fL) | 17.4 | 19.2 | 20 |
| IPF, % (N, 1.1%-6.1%) | 76 | NA | 43 |
| Blood film (MPD) | Large: 14% Giant: 30% Grey: 54% | Large: 24% Giant: 48% Grey: 24% | Large: 16% Giant: 72% Grey: 8% |
| Bone marrow aspirate | Erythroid hyperplasia and increased MKs | Erythroid hyperplasia and increased MKs | Not done |
| Previous diagnosis | Immune thrombocytopenia | Immune thrombocytopenia | DiGeorge syndrome Grey platelet syndrome |
| Treatments | Corticosteroids Immunoglobulins Splenectomy | Corticosteroids Immunoglobulins | No |
| Red blood cells transfusions | Yes | Yes | Yes |
| Platelet transfusions | Yes | Yes | Yes |
| Additional symptoms: | Yes | Yes | Yes |
| Neurological | Mental retardation | Mental retardation | Mental retardation |
| Cardiovascular | Mitral valve prolapse and mitral insufficiency | Mitral valve prolapse and mitral insufficiency | Mitral valve prolapse and mitral insufficiency |
| Ophthalmological | Retinal disease Cataracts | Retinal disease Cataracts | No |
| Orthopedic | No | Hip dysplasia | Equine foot |
| Hepatic | Jaundice Hepatomegaly | Jaundice Hepatomegaly | Jaundice Hepatomegaly |
| The parents and other relatives in both families were asymptomatic and had normal platelet count and volume. | |||
Bleeding symptoms were scored (n) by the ISTH-BAT questionnaire.
IPF, immature platelet fraction; ISTH-BAT, International Society on Thrombosis and Haemostasis bleeding assessment tool; MPD, mean platelet diameter; MPV, mean platelet volume; N, normal; NA. not available.