Diagnostic characteristics in the CDA III Swedish family
. | Sex . | Bone marrow morphology* . | Hb, g/L† . | Haptoglobin, g/L‡ . | LDH, µkat/L . | Thymidine kinase§ . | CDA III|| . |
---|---|---|---|---|---|---|---|
III:6 | M | + | 143 | <0.1 | 5.2 | 52.5 | + |
III:9 | M | − | ND | ND | ND | 1.5 | − |
III:10 | M | + | 107 | <0.1 | 5.8 | 36.5 | + |
III:12 | F | − | ND | ND | ND | 1.4 | − |
III:14 | M | + | 116 | 0.1 | 4.3 | 18.1 | + |
III:18 | M | − | 162 | 0.6 | 2.7 | 2.6 | − |
III:20 | F | + | 128 | <0.1 | 6.3 | 36.2 | + |
IV:2 | F | + | 80 | <0.1 | 5.3 | 27.9 | + |
IV:4 | F | + | 126 | <0.1 | 8.5 | 250.0 | + |
IV:5 | M | − | 149 | 1.6 | 3.1 | 1.9 | − |
IV:7 | F | + | 105 | <0.1 | 8.0 | 39.1 | + |
IV:8 | M | + | 157 | <0.1 | 6.8 | 37.7 | + |
IV:10 | M | + | 107 | <0.1 | 6.2 | 46.5 | + |
IV:12IV:12 | M | + | ND | ND | ND | 56.8 | + |
IV:14 | M | − | 153 | 1.8 | 2.0 | 2.2 | − |
IV:15 | M | + | 146 | <0.1 | 6.2 | 28.9 | + |
IV:17 | M | + | 129 | <0.1 | 6.2 | 59.1 | + |
IV:20 | F | + | 120 | <0.1 | 4.8 | 53.3 | + |
IV:21 | F | − | 135 | 1.1 | 1.9 | 2.7 | − |
IV:22 | M | − | 154 | 0.6 | 2 | 4.5 | − |
IV:24 | F | ND | 105 | <0.1 | ND | 65.0 | + |
IV:26 | F | + | 114 | <0,1 | 6.1 | 62.3 | + |
V:1 | M | + | 118 | <0.1 | 5.7 | 43.6 | + |
V:3 | M | + | 127 | <0.1 | 7.1 | 75.0 | + |
V:4 | M | − | 145 | 0.5 | 2.8 | ND | − |
V:5 | M | + | 106 | <0.1 | 6.8 | 64.3 | + |
V:7 | F | + | 94 | <0.1 | 7.7 | 149.0 | + |
V:8 | F | − | 107 | 0.5 | 2.4 | 1.7 | − |
V:9 | M | + | 135 | <0.1 | 6.3 | 65,6 | + |
V:12 | F | ND | 114 | <0.1 | 6.7 | 184.0 | + |
V:13 | F | − | 145 | 1.9 | 2.0 | 2.6 | − |
V:14 | M | + | 113 | <0.1 | 5.7 | 41.9 | + |
V:17 | M | − | 130 | 0.6 | 2.9 | 1.0 | − |
V:18 | F | − | 136 | 1.0 | 2.0 | 3.4 | − |
V:19 | F | ND | 153 | 0.7 | 2.1 | 4.0 | − |
V:20 | M | ND | 158 | 1.0 | ND | 3.3 | − |
V:22 | F | + | 121 | <0.1 | 6.1 | 89.0 | + |
V:23 | M | + | 135 | <0.1 | 6.4 | 139.0 | + |
V:24 | M | ND | 105 | <0.1 | ND | 52.3 | + |
V:26 | M | ND | 120 | <0.1 | ND | 108.0 | + |
V:27 | M | ND | 147 | 0.6 | 2.7 | 5.0 | − |
V:28 | M | ND | 145 | 0.3 | 3.1 | 8.0 | − |
V:30 | F | ND | 109 | <0.1 | 4.1 | 120.0 | + |
V:31 | M | ND | 118 | 0.8 | ND | 3.8 | − |
V:32 | M | ND | 127 | ND | 3.4 | 7.0 | − |
V:33 | F | + | 119 | 0.1 | 4.3 | 18.5 | + |
V:35 | M | ND | ND | <0.1 | ND | 69.0 | + |
V:36 | F | + | 124 | <0.1 | 8.3 | 167.0 | + |
V:38 | F | − | 138 | 2,6 | 2.7 | 6.4 | − |
VI:1 | F | ND | 102 | <0.1 | 7.5 | 279.0 | + |
VI:2 | F | ND | 133 | 1.22 | 2.2 | 30.0 | − |
VI:3 | F | ND | 114 | 1.87 | 2.6 | ND | − |
VI:4 | M | + | 123 | <0.1 | 10.0 | ND | + |
VI:5 | M | ND | 149 | 0.53 | 3.3 | ND | − |
VI:6 | F | ND | 116 | <0.1 | 5.9 | 116 | + |
VI:7 | F | ND | 109 | <0.1 | 6.6 | 120 | + |
VI:8 | M | ND | 125 | ND | 4.6 | 134 | + |
VI:10 | M | + | 108 | <0.1 | 5.8 | 286 | + |
VI:11 | F | ND | 115 | ND | 5.3 | 102 | + |
VI:14 | F | ND | 107 | <0.1 | 8.8 | ND | + |
. | Sex . | Bone marrow morphology* . | Hb, g/L† . | Haptoglobin, g/L‡ . | LDH, µkat/L . | Thymidine kinase§ . | CDA III|| . |
---|---|---|---|---|---|---|---|
III:6 | M | + | 143 | <0.1 | 5.2 | 52.5 | + |
III:9 | M | − | ND | ND | ND | 1.5 | − |
III:10 | M | + | 107 | <0.1 | 5.8 | 36.5 | + |
III:12 | F | − | ND | ND | ND | 1.4 | − |
III:14 | M | + | 116 | 0.1 | 4.3 | 18.1 | + |
III:18 | M | − | 162 | 0.6 | 2.7 | 2.6 | − |
III:20 | F | + | 128 | <0.1 | 6.3 | 36.2 | + |
IV:2 | F | + | 80 | <0.1 | 5.3 | 27.9 | + |
IV:4 | F | + | 126 | <0.1 | 8.5 | 250.0 | + |
IV:5 | M | − | 149 | 1.6 | 3.1 | 1.9 | − |
IV:7 | F | + | 105 | <0.1 | 8.0 | 39.1 | + |
IV:8 | M | + | 157 | <0.1 | 6.8 | 37.7 | + |
IV:10 | M | + | 107 | <0.1 | 6.2 | 46.5 | + |
IV:12IV:12 | M | + | ND | ND | ND | 56.8 | + |
IV:14 | M | − | 153 | 1.8 | 2.0 | 2.2 | − |
IV:15 | M | + | 146 | <0.1 | 6.2 | 28.9 | + |
IV:17 | M | + | 129 | <0.1 | 6.2 | 59.1 | + |
IV:20 | F | + | 120 | <0.1 | 4.8 | 53.3 | + |
IV:21 | F | − | 135 | 1.1 | 1.9 | 2.7 | − |
IV:22 | M | − | 154 | 0.6 | 2 | 4.5 | − |
IV:24 | F | ND | 105 | <0.1 | ND | 65.0 | + |
IV:26 | F | + | 114 | <0,1 | 6.1 | 62.3 | + |
V:1 | M | + | 118 | <0.1 | 5.7 | 43.6 | + |
V:3 | M | + | 127 | <0.1 | 7.1 | 75.0 | + |
V:4 | M | − | 145 | 0.5 | 2.8 | ND | − |
V:5 | M | + | 106 | <0.1 | 6.8 | 64.3 | + |
V:7 | F | + | 94 | <0.1 | 7.7 | 149.0 | + |
V:8 | F | − | 107 | 0.5 | 2.4 | 1.7 | − |
V:9 | M | + | 135 | <0.1 | 6.3 | 65,6 | + |
V:12 | F | ND | 114 | <0.1 | 6.7 | 184.0 | + |
V:13 | F | − | 145 | 1.9 | 2.0 | 2.6 | − |
V:14 | M | + | 113 | <0.1 | 5.7 | 41.9 | + |
V:17 | M | − | 130 | 0.6 | 2.9 | 1.0 | − |
V:18 | F | − | 136 | 1.0 | 2.0 | 3.4 | − |
V:19 | F | ND | 153 | 0.7 | 2.1 | 4.0 | − |
V:20 | M | ND | 158 | 1.0 | ND | 3.3 | − |
V:22 | F | + | 121 | <0.1 | 6.1 | 89.0 | + |
V:23 | M | + | 135 | <0.1 | 6.4 | 139.0 | + |
V:24 | M | ND | 105 | <0.1 | ND | 52.3 | + |
V:26 | M | ND | 120 | <0.1 | ND | 108.0 | + |
V:27 | M | ND | 147 | 0.6 | 2.7 | 5.0 | − |
V:28 | M | ND | 145 | 0.3 | 3.1 | 8.0 | − |
V:30 | F | ND | 109 | <0.1 | 4.1 | 120.0 | + |
V:31 | M | ND | 118 | 0.8 | ND | 3.8 | − |
V:32 | M | ND | 127 | ND | 3.4 | 7.0 | − |
V:33 | F | + | 119 | 0.1 | 4.3 | 18.5 | + |
V:35 | M | ND | ND | <0.1 | ND | 69.0 | + |
V:36 | F | + | 124 | <0.1 | 8.3 | 167.0 | + |
V:38 | F | − | 138 | 2,6 | 2.7 | 6.4 | − |
VI:1 | F | ND | 102 | <0.1 | 7.5 | 279.0 | + |
VI:2 | F | ND | 133 | 1.22 | 2.2 | 30.0 | − |
VI:3 | F | ND | 114 | 1.87 | 2.6 | ND | − |
VI:4 | M | + | 123 | <0.1 | 10.0 | ND | + |
VI:5 | M | ND | 149 | 0.53 | 3.3 | ND | − |
VI:6 | F | ND | 116 | <0.1 | 5.9 | 116 | + |
VI:7 | F | ND | 109 | <0.1 | 6.6 | 120 | + |
VI:8 | M | ND | 125 | ND | 4.6 | 134 | + |
VI:10 | M | + | 108 | <0.1 | 5.8 | 286 | + |
VI:11 | F | ND | 115 | ND | 5.3 | 102 | + |
VI:14 | F | ND | 107 | <0.1 | 8.8 | ND | + |