Dit is een samenvatting van de diagnostiek het vak Pathologisch bloedbeeld dat behoort tot het OLOD Hematologie 2. Verschillende anemieën en soorten leukemie worden besproken. Daarnaast komen ook een aantal trombocyt gerelateerde aandoeningen aan bod.
Diagnose thalassemie
= verminderde of afwezige productie van een globulineketen (aangeboren)
o Celtelling en RBC indices
- Hb (major ↓↓↓, intermedia ↓↓, minor ↓)
- RBC (hoog)normaal
- MCV en MCH significant gedaald (major en intermedia)
- reticulocytose
o Cytomorfologisch
- Abnormale opstapeling β-tetrameren (golfballetjes)
- HbH supravitaal gekleurd Heinz boddies
- Schietschijfcellen of target cells
o Biochemisch
- ↑ bilirubinespiegel
- Hb-elektroforese
Capillaire zone elektroforese (CZE)
Hogh pressure liquid chromatografie (HPLC)
o Prenatale genetische diagnostiek
Diagnose sikkelcelanemie
= HbA HbS (puntmutatie) wijziging elektrische lading (aangeboren)
o Celtelling en RBC indices
- Hb ↓, MCV ↓, ferritine ↓
- Verhoogde reticulocytose
o Cytomorfologisch
- Sikkelcelziekte: uitgesproken anisocytose ( ≠ grootte), poikilocytose (≠ vorm)
- Tekenen van hyposplenisme: targetcells, Howel) Jolly lichaampjes
- sikkelcellen
o Biochemisch onderzoek
- ↑ bilirubine (hemolyse)
- Hb elektroforese met S-band op typische plaats
- HPLC
o Genetisch onderzoek meestal overbodig door andere analyses
2
Samenvatting pathologisch bloedbeeld
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