Korean J Clin Pathol.  2000 Jun;20(3):255-262.

CD59 Analysis and Screening of PIG-A Gene Mutation in Aplastic Anemia, Myelodysplastic Syndrome and Paroxysmal Nocturnal Hemoglobinuria

• Chang YH
• Cho HI
• Park SS
• Park MH
• Lee DS
• Lee YJ
• Hur M
• Kim BK
• Park S

Abstract

BACKGROUND: Aplastic anemia(AA), myelodysplastic syndrome(MDS) and paroxysmal nocturnal hemoglobinuria(PNH) are hematopoietic stem cell disorders. To investigate the pathogenetic links, we performed CD59 analysis and screened PIG-A gene mutation in the patients with AA, MDS, and PNH developed from AA or MDS.
METHODS
We analyzed the proportion of the patients with CD59-deficient cells by flow cytometry for CD59 in 42 patients with AA or MDS and eight patients with PNH developed from AA or MDS. The mutations of PIG-A gene were screened with dideoxy fingerprinting(ddF).
RESULTS
In normal controls, the proportion of the RBCs normally expressing CD59 was 97.2+/-1.9% and that of the granulocytes was 98.4%+/-1.5%. In patients with AA or MDS, 9.5%(4/42) had CD59 deficiency on RBCs and 10.3%(3/29) on granulocytes. In patients whose CD59 on both RBCs and granulocytes were analyzed, 17.2%(5/29) showed reduced CD59 in at least one cell lineage. Screening test using ddF revealed abnormal band shifts in three patients with PNH developed from AA or MDS.
CONCLUSION
We found the presence of PNH clones in the patients with AA or MDS. And it was indirectly confirmed by ddF that PNH arisen from AA or MDS is also associated with the mutations of PIG-A gene as classical PNH. CD59 analysis in AA or MDS will be helpful for the early diagnosis of PNH.

Keyword

AA; MDS; PNH; GPI anchor; CD59; PIG-A gene; ddF

MeSH Terms

Anemia, Aplastic*
Cell Lineage
Clone Cells
Early Diagnosis
Flow Cytometry
Granulocytes
Hematopoietic Stem Cells
Hemoglobinuria, Paroxysmal*
Humans
Mass Screening*
Myelodysplastic Syndromes*