Clinical and hematologic characteristics of the 4 patients with MYH9 disorders
| Patient no. . | Sex/age, y . | Platelet count,* ‘10/L . | Platelet size, μm,† mean ± SD . | MYH9 mutations . | Reference . |
|---|---|---|---|---|---|
| 1 | M/1 | 88 | 5.6 ± 1.6 | 5770delG | This study |
| 2 | F/36 | 68 | 5.2 ± 1.8 | 5818delG | Mother of patients 3 and 4 |
| 3 | M/10 | 68 | 5.7 ± 2.3 | 5818delG | Kunishima et al9,11 |
| 4 | M/4 | 40 | 5.1 ± 1.5 | 5818delG | Brother of patient 3 |
| Patient no. . | Sex/age, y . | Platelet count,* ‘10/L . | Platelet size, μm,† mean ± SD . | MYH9 mutations . | Reference . |
|---|---|---|---|---|---|
| 1 | M/1 | 88 | 5.6 ± 1.6 | 5770delG | This study |
| 2 | F/36 | 68 | 5.2 ± 1.8 | 5818delG | Mother of patients 3 and 4 |
| 3 | M/10 | 68 | 5.7 ± 2.3 | 5818delG | Kunishima et al9,11 |
| 4 | M/4 | 40 | 5.1 ± 1.5 | 5818delG | Brother of patient 3 |
All 4 patients had leukocyte inclusion bodies and type I NMMHC-IIA localization. None of the patients had nephritis, hearing loss, or cataracts.
Platelet count was determined manually in a hemocytometer or on peripheral blood smears.
Platelet size was determined as platelet diameter by microscopic observation of 200 platelets on stained peripheral blood smears (normal control, 2.5 ± 0.3 μm; n=31).