diagnostiek hemoglobinopathieën
Inhoudsopgave
1 Hb-elektroforese
| HbA | HbS | HbC | HbF | HbA2 | HbH | |
|---|---|---|---|---|---|---|
| α2β2 | α2βx2 | α2βx2 | α2γ2 | α2δ2 | β4 | |
| normaal of b/b-silent | 95-98 | 0 | 0 | <1 | 2.5 ± 0.2 | |
| beta minor (= b/b0 of b/b+ tenzij tevens aa/aaa) |
90-95 | 0 | 0 | bij 50% verhoogd: 1-5 |
>3.5 – 8 | |
| beta intermedia (= variant met milde b+, of minor plus alfa-thal, of beta/delta) |
0-80% | 0 | 0 | >10 | 4-7 (bij beta/delta 0%) |
|
| beta major (= b0 / b0 of b0 / b+ of b+ / b+) |
0 | 0 | 0 | vrijwel 100 | <4 | |
| alfa minima (aa/a-) en minor (aa/– of a-/a-) | normaal | soms verhoogd | soms <2 (d.d. Fe-def) |
volw: 0 | ||
| HbH-ziekte | 5-30 | |||||
| HbAS | 50-70 | 35-45 | 0 | <2 | <3.5 | |
| HbAS met alfa-thalassemie | 21-35 | |||||
| HbSβ+ | 5-30 | 65-90 | 0 | 2-10 | >3.5 | |
| HbSb0 | 0 | 80-92 | 0 | 2-15 | >3.5 | |
| HbSC | 0 | 45-50 | 45-50 | 1-8 | <3.5 | |
| HbSS | 0 | 85-95 | 0 | 2-15 | <3.5 | |
| HPFH | verhoogd |
2 alfa-thalassemieën
| genotype | MCV | anemie | |
|---|---|---|---|
| stille drager / minima | α α / α - | 75-85 | geen |
| minor | α α / - - of α - / α - | laag | +/- |
| HbH-ziekte | α - / - - | laag | matig |
| hydrops foetalis | - - / - - | laag | fataal |