Characteristics of 8 cases with the DIAPH1 R1213* variant
| . | Pedigree 1 cases . | Pedigree 2 cases . | ||||||
|---|---|---|---|---|---|---|---|---|
| 10 . | 14 . | 15 . | 16 . | 17 . | 21 . | 22 . | 24 . | |
| Gender | Male | Female | Male | Female | Female | Female | Male | Male |
| Year of birtd in 5-y bins | 1951-1955 | 1976-1980 | 1976-1980 | 1981-1985 | 1976-1980 | 1976-1980 | 2001-2005 | 2006-2010 |
| Platelet count, ×109 L−1 | 69-110* | 97* | 140-147* | 66-114* | 94-107* | 63-115* | 116-129* | 93-102* |
| Mean platelet volume, fL | 13.6* | 11.2* | 13.5* | 13.1-14.1* | 12.1* | 13.2* | 12.9* | 13.2* |
| Neutrophil count, ×109 L−1 | 1.21* | 1.49† | 1.66† | 3.11-3.74 | 0.9-2.27† | 1.29-4.34† | 0.64-1.84† | 0.62-1.02† |
| Hemoglobin, g dL−1 | 13.2-14.1 | 12.7 | 15 | 12.3-12.5 | 10.9-12.4† | 10.2-12.6† | 11.2-11.9† | 10.4-11.1† |
| Bleeding score‡ | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| Type of hearing loss | HFSN | HFSN | HFSN, C | HFSN | HFSN | HFSN | HFSN | HFSN |
| Age of hearing loss, y | 8 | 2 | 8 | 6 | 6 | Not known | 2 | 1 |
| . | Pedigree 1 cases . | Pedigree 2 cases . | ||||||
|---|---|---|---|---|---|---|---|---|
| 10 . | 14 . | 15 . | 16 . | 17 . | 21 . | 22 . | 24 . | |
| Gender | Male | Female | Male | Female | Female | Female | Male | Male |
| Year of birtd in 5-y bins | 1951-1955 | 1976-1980 | 1976-1980 | 1981-1985 | 1976-1980 | 1976-1980 | 2001-2005 | 2006-2010 |
| Platelet count, ×109 L−1 | 69-110* | 97* | 140-147* | 66-114* | 94-107* | 63-115* | 116-129* | 93-102* |
| Mean platelet volume, fL | 13.6* | 11.2* | 13.5* | 13.1-14.1* | 12.1* | 13.2* | 12.9* | 13.2* |
| Neutrophil count, ×109 L−1 | 1.21* | 1.49† | 1.66† | 3.11-3.74 | 0.9-2.27† | 1.29-4.34† | 0.64-1.84† | 0.62-1.02† |
| Hemoglobin, g dL−1 | 13.2-14.1 | 12.7 | 15 | 12.3-12.5 | 10.9-12.4† | 10.2-12.6† | 11.2-11.9† | 10.4-11.1† |
| Bleeding score‡ | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| Type of hearing loss | HFSN | HFSN | HFSN, C | HFSN | HFSN | HFSN | HFSN | HFSN |
| Age of hearing loss, y | 8 | 2 | 8 | 6 | 6 | Not known | 2 | 1 |
Data from the hematologic tests are presented as the minimum and maximum values observed in all available results from the cases.
C, conductive; HFSN, high-frequency sensorineural.
Every observed test result value is outside laboratory reference interval.
Test result value (or at least 1 value in the range) is outside age- and sex-adjusted laboratory reference intervals.
Determined by using the International Society of Thrombosis and Haemostasis Bleeding Assessment Tool. Pathological bleeding is associated witd bleeding scores >4.