Table 2. Characteristic features of the reported anemia, HPFH, CDA IV, and thalassemia intermediate.
| Identity | HPFH | Thalassemia intermediate | CDA IV | Reported anemia |
|---|---|---|---|---|
| Anemia | n | +++ | +++ | +++ |
| Microcystis/hypochromia | + | +++ | n | ++ |
| Reticulocytes | n | +++ | + | ++ |
|
Erythrocytes | ||||
| Zinc protoporphyrin | n | n | NA | ↑↑ |
| In(Lu)phenotype | − | − | n | + |
| CD44 deficiency | − | − | + | + |
| ζ-globn | − | − | + | + |
|
Morphology | ||||
| poikilocyte | − | + | NA | + |
| heterochromatin clumps | − | − | − | +++ |
|
Hb expression | ||||
| HbF | ↑↑↑ | ↑↑ | ↑↑ | ↑↑ |
| α/β | ↑↑↑↑ | ↑↑↑↑ | ↑↑↑ | ↑↑ |
| α/β+γ | ↑ | ↑↑↑ | ↑↑ | ↓ |
| Gene | HBB | HBB | KLF1 | KLF1 |
| Inheritance | AR | AR | De novo | AR |
Abbreviation: NA: not available. + and − indicate positive and negative phenotypes described in the columns. n indicates normal, ↑ and ↓ indicate increase and decrease expression.