Table 2 Blood profiles of patient and his family members
Laboratory values | Patient | Mother | Father | Sister |
|---|---|---|---|---|
Blood values | ||||
Hb (g/dL) | 10.4 | 10.0 | 11.0 | 9.4 |
MCV (fL) | 76.0 | 66.5 | 67.9 | 61.0 |
MCHC (g/dL) | 34.7 | 31.6 | 31.9 | 33.6 |
Reticulocytes | 97.1 | NA | 72.6 | NA |
RDW (%) | 40.0 | 42.2 | 36.7 | 39.9 |
Neutrophils (× 109/L) | 3.7 | 3.0 | 4.6 | 4.8 |
Platelets (× 109/L) | 294 | 342 | 221 | 126 |
Blood film | Aniso-, poikilo-, elliptocytosis, very rare ISC hypochromic cells. | Anisocytosis, target cells, | Anisocytosis, microcytosis | Aniso-, poikilo-, elliptocytosis, target cells |
HPLC-data of Hb-subtypes (%) | ||||
A | 6.3 | 57.7 | 79.5 | 5.3 |
A2 | 6.8 | 2.7 | 4.1 | 5.6 |
F | 12.0 | 3.3 | 12.0 | 10.2 |
S | 73.0 | 34.5 | ND | 79.0 |
Other | ND | ND | 4 | ND |
Interpretation | Sickle beta-thalassaemia double heterozygote | AS heterozygote | Beta -thalassaemia heterozygote | Sickle beta-thalassaemia double heterozygote |