| Parameters |
Patient |
Mother |
Father |
| Age (year)/sex |
6/F |
33/F |
35/M |
| Hb (g/dL) |
4.2 |
10.7 |
13.3 |
| RBC (106/μL) |
2.09 |
5.3 |
4.94 |
| Hct (%) |
NA |
31.9 |
40.1 |
| MCV (fL) |
74.0 |
60.2 |
81.2 |
| MCH (pg) |
20.0 |
20.2 |
26.9 |
| MCHC (g/dL) |
27.1 |
33.5 |
33.2 |
| RDW-CV (%) |
31.6 |
17.61 |
14.6 |
| HbA2(%) |
4.3 |
6.7 |
5.5 |
| HbF (%) |
56.3 |
1.1 |
1.1 |
| Test methods |
|
|
|
| β-MARMS |
Cd 41/42 (-TTCT) |
Cd 41/42 (-TTCT) |
ND |
| β-sequencing |
-30 (T>C) and
Cd 41/42 (-TTCT) |
NT |
-30 (T>C) |
|
