Characteristics of patients with inherited thrombocytopenia with or without the Q43P β1-tubulin substitution and of the Q43P β1-tubulin carriers in a healthy population
. | . | Platelet count, × 109/L, 150–44§ . | Mean platelet volume, fL, 8–12.5§ . | Platelet function studies . | . | . | . | ||
|---|---|---|---|---|---|---|---|---|---|
| Subjects . | Sex . | . | . | Clinical bleeding problem . | Decreased collagen aggregation . | Decreased ATP secretion . | Platelet electron microscopy . | ||
| Q43P β1-tubulin thrombocytopenia patients* | |||||||||
| Patient 1 | M | 117 | >15 | – | + | + | Enlarged, round platelets, inclusions | ||
| Parent 1 | F | 163 | 13.3 | – | + | + | Enlarged, round platelets, inclusions‡ | ||
| Patient 2 | M | 110 | >15 | + | + | + | Enlarged, round platelets, inclusions‡ | ||
| Parent 2 | F | 281 | 12.8 | – | + | + | Enlarged, round platelets, inclusion‡ | ||
| Patient 3 | F | 85 | 13.3 | + | + | + | Enlarged, round platelets | ||
| Parent 3† | M | NA | NA | – | NA | NA | NA | ||
| Patient 4 | M | 33 | >15 | – | NA | NA | Enlarged, round platelets, inclusions | ||
| Parent 4 | F | 46 | >15 | – | NA | NA | Enlarged, round platelets, inclusions | ||
| Patient 5 | M | 70 | >15 | + | + | NA | Enlarged, round platelets, inclusions | ||
| Parent 5 | F | 214 | 13.4 | – | NA | NA | Enlarged, round platelets, inclusions‡ | ||
| Patient 6 | F | 144 | 13.2 | + | NA | NA | Enlarged, round platelets, inclusions | ||
| Patient 7 | F | <150 | >15 | + | NA | NA | NA | ||
| Patient 8 | F | 102 | 11.7 | + | + | + | Enlarged, round platelets, inclusions | ||
| Q43 β1-tubulin thrombocytopenia patients | |||||||||
| Patient 9 | F | 66 | >15 | + | NA | NA | Enlarged, round platelets, inclusions | ||
| Patient 10 | F | 50 | >15 | + | NA | NA | Enlarged platelets | ||
| Patient 11 | F | 81 | >15 | – | – | NA | Enlarged, round platelets, small dense granules and inclusions | ||
| Patient 12 | F | 87 | >15 | + | NA | NA | Giant, round platelets and many inclusions | ||
| Patient 13 | F | 59 | >15 | – | – | – | Enlarged platelets, lacking granules and with many inclusions | ||
| Patient 14 | F | 90 | >15 | + | + | + | Giant platelets | ||
| Patient 15 | F | 36 | >15 | – | + | + | Enlarged platelets with few dense granules | ||
| Patient 16 | F | 90 | >15 | – | – | – | Enlarges platelets with few inclusions | ||
| Patient 17 | M | 26 | >15 | – | – | – | NA | ||
| Patient 18 | M | 67 | >15 | NA | NA | NA | NA | ||
| Patient 19 | F | 103 | >15 | + | NA | + | Enlarged platelets with few inclusions | ||
| Patient 20 | F | 140 | 13.7 | + | + | + | Enlarged platelets, abnormal alpha granules | ||
| Patient 21 | F | 60 | 10.2 | + | + | + | Enlarged, round platelets | ||
| Patient 22 | M | 66 | 10.5 | NA | NA | NA | Enlarged, round platelets | ||
| Patient 23 | F | 174 | 11.8 | – | – | – | Enlarged platelets, abnormal alpha granules | ||
| Patient 24 | F | 53 | >15 | – | NA | NA | Giant platelets, abnormal alpha granules | ||
| Patient 25 | F | 57 | 14.0 | – | NA | NA | Enlarged platelets | ||
| Patient 26 | M | 69 | >15 | – | – | – | Giant platelets | ||
| Patient 27 | F | 100 | 13.3 | + | + | NA | Enlarged platelets, abnormal dense granules | ||
| Patient 28 | M | 84 | >15 | NA | + | NA | Enlarged, round platelets with inclusions | ||
| Patient 29 | M | 101 | >15 | – | NA | NA | Enlarged, round platelets with inclusions and few alpha granules | ||
| Patient 30 | M | 75 | >15 | + | + | NA | Giant platelets | ||
| Patient 31 | M | 171 | 13.2 | – | – | – | Enlarged, round platelets, many dense granules and inclusions | ||
| Patient 32 | M | 107 | 12.9 | – | – | – | Giant platelets with abnormal granules | ||
| Patient 33 | M | 56 | >15 | – | – | – | Giant platelets | ||
| Q43P β1-tubulin healthy population | |||||||||
| Carrier 1 | F | 230 | 10.8 | – | NA | + | Enlarged, round platelets with inclusions | ||
| Carrier 2 | F | 284 | 11.6 | – | + | + | Enlarged, round platelets with inclusions | ||
| Carrier 3 | M | 230 | 9.6 | – | + | + | NA | ||
| Carrier 4 | F | 195 | 11.4 | – | + | + | Enlarged, round platelets with inclusions | ||
| Carrier 5 | F | 268 | 9.7 | – | + | + | NA | ||
| Carrier 6 | F | 258 | 10.6 | – | + | + | NA | ||
. | . | Platelet count, × 109/L, 150–44§ . | Mean platelet volume, fL, 8–12.5§ . | Platelet function studies . | . | . | . | ||
|---|---|---|---|---|---|---|---|---|---|
| Subjects . | Sex . | . | . | Clinical bleeding problem . | Decreased collagen aggregation . | Decreased ATP secretion . | Platelet electron microscopy . | ||
| Q43P β1-tubulin thrombocytopenia patients* | |||||||||
| Patient 1 | M | 117 | >15 | – | + | + | Enlarged, round platelets, inclusions | ||
| Parent 1 | F | 163 | 13.3 | – | + | + | Enlarged, round platelets, inclusions‡ | ||
| Patient 2 | M | 110 | >15 | + | + | + | Enlarged, round platelets, inclusions‡ | ||
| Parent 2 | F | 281 | 12.8 | – | + | + | Enlarged, round platelets, inclusion‡ | ||
| Patient 3 | F | 85 | 13.3 | + | + | + | Enlarged, round platelets | ||
| Parent 3† | M | NA | NA | – | NA | NA | NA | ||
| Patient 4 | M | 33 | >15 | – | NA | NA | Enlarged, round platelets, inclusions | ||
| Parent 4 | F | 46 | >15 | – | NA | NA | Enlarged, round platelets, inclusions | ||
| Patient 5 | M | 70 | >15 | + | + | NA | Enlarged, round platelets, inclusions | ||
| Parent 5 | F | 214 | 13.4 | – | NA | NA | Enlarged, round platelets, inclusions‡ | ||
| Patient 6 | F | 144 | 13.2 | + | NA | NA | Enlarged, round platelets, inclusions | ||
| Patient 7 | F | <150 | >15 | + | NA | NA | NA | ||
| Patient 8 | F | 102 | 11.7 | + | + | + | Enlarged, round platelets, inclusions | ||
| Q43 β1-tubulin thrombocytopenia patients | |||||||||
| Patient 9 | F | 66 | >15 | + | NA | NA | Enlarged, round platelets, inclusions | ||
| Patient 10 | F | 50 | >15 | + | NA | NA | Enlarged platelets | ||
| Patient 11 | F | 81 | >15 | – | – | NA | Enlarged, round platelets, small dense granules and inclusions | ||
| Patient 12 | F | 87 | >15 | + | NA | NA | Giant, round platelets and many inclusions | ||
| Patient 13 | F | 59 | >15 | – | – | – | Enlarged platelets, lacking granules and with many inclusions | ||
| Patient 14 | F | 90 | >15 | + | + | + | Giant platelets | ||
| Patient 15 | F | 36 | >15 | – | + | + | Enlarged platelets with few dense granules | ||
| Patient 16 | F | 90 | >15 | – | – | – | Enlarges platelets with few inclusions | ||
| Patient 17 | M | 26 | >15 | – | – | – | NA | ||
| Patient 18 | M | 67 | >15 | NA | NA | NA | NA | ||
| Patient 19 | F | 103 | >15 | + | NA | + | Enlarged platelets with few inclusions | ||
| Patient 20 | F | 140 | 13.7 | + | + | + | Enlarged platelets, abnormal alpha granules | ||
| Patient 21 | F | 60 | 10.2 | + | + | + | Enlarged, round platelets | ||
| Patient 22 | M | 66 | 10.5 | NA | NA | NA | Enlarged, round platelets | ||
| Patient 23 | F | 174 | 11.8 | – | – | – | Enlarged platelets, abnormal alpha granules | ||
| Patient 24 | F | 53 | >15 | – | NA | NA | Giant platelets, abnormal alpha granules | ||
| Patient 25 | F | 57 | 14.0 | – | NA | NA | Enlarged platelets | ||
| Patient 26 | M | 69 | >15 | – | – | – | Giant platelets | ||
| Patient 27 | F | 100 | 13.3 | + | + | NA | Enlarged platelets, abnormal dense granules | ||
| Patient 28 | M | 84 | >15 | NA | + | NA | Enlarged, round platelets with inclusions | ||
| Patient 29 | M | 101 | >15 | – | NA | NA | Enlarged, round platelets with inclusions and few alpha granules | ||
| Patient 30 | M | 75 | >15 | + | + | NA | Giant platelets | ||
| Patient 31 | M | 171 | 13.2 | – | – | – | Enlarged, round platelets, many dense granules and inclusions | ||
| Patient 32 | M | 107 | 12.9 | – | – | – | Giant platelets with abnormal granules | ||
| Patient 33 | M | 56 | >15 | – | – | – | Giant platelets | ||
| Q43P β1-tubulin healthy population | |||||||||
| Carrier 1 | F | 230 | 10.8 | – | NA | + | Enlarged, round platelets with inclusions | ||
| Carrier 2 | F | 284 | 11.6 | – | + | + | Enlarged, round platelets with inclusions | ||
| Carrier 3 | M | 230 | 9.6 | – | + | + | NA | ||
| Carrier 4 | F | 195 | 11.4 | – | + | + | Enlarged, round platelets with inclusions | ||
| Carrier 5 | F | 268 | 9.7 | – | + | + | NA | ||
| Carrier 6 | F | 258 | 10.6 | – | + | + | NA | ||
The presence (+) or absence (–) of clinical bleeding problems is indicated for all subjects. Bleeding problems are mostly associated with an increased Ivy bleeding time and include the presence of petechiae, epistaxis, and/or small superficial ecchymoses. A decreased collagen-induced (0.5 μg/mL) aggregation (+) means an aggregation of only 50% or less. A decreased ATP secretion (+) after collagen (2 μg/mL) activation means a value less than 3 μM ATP release. Normal collagen-induced aggregation and ATP secretion values are shown by the minus sign.
NA indicates not available.
Sub-subentries in this category are parents of patients
Carrier RR is homozygous for the double β1-tubulin nucleotide substitution
Electron microscopy pictures of platelets from these individuals are available in Figure S1
Normal values for platelet count and mean platelet volume are indicated