Table 1.
Clinical and laboratory characteristics of GPS patients
| Family no. (patient no.) | Sex | Inheritance pattern | Ethnicity | Age at onset (y) | Age at diagnosis (y) | Age at most recent evaluation (y) | Age at previous report (y)ref | Duration of follow-up (y) | Presenting symptoms | Types of hemorrhage | Severity of hemorrhage | Splenomegaly | Myelofibrosis age/grade* | PLT count (K/μL) | Hb (g/dL) | WBC (K/μL) | Vitamin B12 (pg/mL)† |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (IV-2) | M | AR, First Cousins | Muslim Bedouins | NA | 46 | 57 | Not reported | 9 | Low PLT count identified incidentally | No symptoms | Mild | Yes | NE | 37 | 14.3 | 3.6 | 1378 |
| 1 (V-20) | F | AR, First Cousins | Muslim Bedouins | 0.7 | 6 | 17 | 813 | 9 | Low PLT count identified incidentally | Epistaxis, menometrorrhagia | Moderate | Yes | 8/grade 1-2 | 59-225 | 11.3 | 3.3 | 5699 |
| 1 (V-21) | M | AR, First Cousins | Muslim Bedouins | 3 | 3 | 14 | 513 | 9 | Low PLT count identified incidentally | No symptoms | Mild | Yes | NE | 68- 351 | 12.3 | 3.7 | 3627 |
| 2 (VII-1) | M | AR, 3rd cousins once removed | Mennonite | 4 | 8 | 10 | Not reported | 2 | Sister with GPS | Easy bruising, epistaxis | Mild | Yes | NE | 84-97 | 13 | 5.6 | 1852 |
| 2 (VII-2) | F | AR, 3rd cousins once removed | Mennonite | 0.6 | 6 | 9 | Not reported | 3 | Major bruise after minor injury | Easy bruising, epistaxis, intracranial hemorrhage | Severe | Yes | NE | 88-97 | 12.7 | 6.1 | 1859 |
| 3 (V-1) | F | AR, Second Cousins | Caucasian, (French) | Childhood | Childhood | 64 | 5517 | 9 | Mild epistaxis, easy bruising | Epistaxis, menometrorrhagia, hemorrhage during surgery and after deliveries, gastric hemorrhage without lesion | Moderate | Yes | NE | 18-70 | NA | NA | NE |
| 4 (IV-1) | F | AR, First Cousins | Caucasian, (Turkish) | 2.5 | 15 | 29 | Not reported | 14 | Easy bruising, anemia | Easy bruising, epistaxis, menometrorrhagia | Severe | Yes | 2/no fibrosis, 23/grade 3 | 28-46 | 8.6 | 3.3 | 1441 |
| 4 (IV-2) | F | AR, First Cousins | Caucasian, (Turkish) | 6 | 10 | Died at 21 | Not reported | 11 | Prolonged bleeding after dental work | Easy bruising, epistaxis, menometrorrhagia | Severe | Yes | NE | 5-25 | 10.9 | 4.1 | 2139 |
| 5 (IV-1) | M | AR, First Cousins | Caucasian, (Turkish) | 3 | 12 | 21 | Not reported | 9 | Splenomegaly, low PLT count | Easy bruising, epistaxis | Mild | Yes | NE | 65 | 16‡ | 4.7 | 927 |
| 5 (IV-2) | F | AR, First Cousins | Caucasian, (Turkish) | 6 | 6 | 13 | Not reported | 6 | Low PLT count identified incidentally | Easy bruising | Mild | No | NE | 23-105 | 12.5 | 4.8 | NE |
| 6 (IV-1) | F | AR, First Cousins | Caucasian, (Turkish) | 6 | 33 | 33 | Not reported | 0 | Low PLT count identified incidentally | Epistaxis, menometrorrhagia | Mild | Yes | 33/grade 3-4 | 16 | 8.3 | 1.7 | 1078 |
| 7 (II-2) | F | AR | Caucasian (German) | Early childhood | 17 | 17 | 176 | 0 | Easy bruising | Easy bruising, epistaxis, hemorrhage after tonsillectomy, menometrorrhagia | Severe | NA | 17/grade 3-4 | 33-150 | NA | NA | NE |
| 7 (II-3) | M | AR | Caucasian (German) | 4 | 12 | 12 | 126 | 0 | Easy bruising | Hemorrhage after tonsillectomy and tooth extraction | Severe | NA | NE | 69-125 | NA | NA | NE |
| 8 (II-1) | F | Simplex | Caucasian, (mixed Northern European) | 0 | 3 | 30 | 48 | 26 | Easy bruising | Subgaleal hemorrhage, nasopharyngeal hemorrhage, menometrorrhagia | Severe | Yes | 10/grade 1, 29/grade 2-3 | 31 | 10 | 6 | NE |
| 9 (II-1) | F | Simplex | Caucasian, (Turkish) | 0.8 | 5 | 24 | Not reported | 19 | Petechiae, epistaxis | Severe epistaxis, hematemesis, melena | Severe | Yes | NE | 20- 72 | 10.8 | 3.3 | 1524 |
| 10 (II-1) | F | Simplex | African American, (Somalian) | NA | 16 | 16 | 1616 | 0 | NA | NA | NA | NA | NE | NA | NA | NA | NE |
| 10 (II-2) | M | Simplex | African American, (Somalian) | NA | 14 | 14 | 1416 | 0 | NA | NA | NA | NA | NE | 95 | NA | NA | NE |
| 11 (II-1) | F | Simplex | Caucasian, (German, mixed Northern European) | 0.8 | 2 | 36 | 434 | 32 | Major bruise after minor injury | Easy bruising, epistaxis, menometrorrhagia | Moderate | No | 8/grade 1 | 15-56 | 13.7 | 4.7 | 5135 |
| 12 (II-1) | F | Simplex | Caucasian, (French, Scottish, Irish) | 4 | 4 | Died at 20 | Not reported | 16 | Excessive bleeding after tonsillectomy | Menometrorrhagia, hemorrhage after dental work | Severe | Yes | 4/no fibrosis, 20/no fibrosis | 40-150 | 12 | 3.6 | NE |
| 13 (II-1) | M | Simplex | Caucasian, (Russian, Yugoslavian, Irish, German) | 0 | 11 | 54 | 111 2234 | 32 | Easy bruising | Easy bruising, epistaxis | Moderate | Yes, Splenectomy | 11/no fibrosis, 47/grade 3 | 25-300 | 13 | 7.2 | 1555 |
| 14 (II-1) | M | Simplex | African American | 0.8 | 6 | 13 | Not reported | 7 | Easy bruising | Easy bruising | Mild | Yes | NE | 71 | 13.2 | 3.2 | 4008 |
*
Age at bone marrow evaluation in years and grade of myelofibrosis using a scale of 1-4.
†
Normal: 220-960.
‡
This patient had a Hb variant with increased affinity for oxygen.
No. indicates number; M, male; F, female; AR, autosomal recessive; NE, not evaluated; NA, not available; and PLT, platelet.