Summary of gene mutations causing hereditary thrombocythemia
| Initial case report . | Mode of inheritance . | Plt count . | Complications . | Gene mutation . | Mechanism . | Remarks . |
|---|---|---|---|---|---|---|
| Schlemper et al82 | AD, 11 affected in 4 generations | 533-1516 | Vaso-occlusive | G > C in TPO intron 3, position +183 | Loss of uORFs through exon skipping83 | Leukemoid reaction in 1 child |
| Kondo et al84 | AD, 5 affected in 3 generations | 847-1600 | ΔG in TPO 5′-UTR84 | Frame shift in uORF785 | ||
| Kikuchi et al86 | AD, 4 affected in 3 generations | 833-1986 | G > T in TPO 5′-UTR87 | Premature stop codon in uORF787 | ||
| Jorgensen et al88 | AD | 700-1000 | Vaso-occlusive | A > G in TPO intron 3, position +588 | Polyclonal hematopoiesis |
| Initial case report . | Mode of inheritance . | Plt count . | Complications . | Gene mutation . | Mechanism . | Remarks . |
|---|---|---|---|---|---|---|
| Schlemper et al82 | AD, 11 affected in 4 generations | 533-1516 | Vaso-occlusive | G > C in TPO intron 3, position +183 | Loss of uORFs through exon skipping83 | Leukemoid reaction in 1 child |
| Kondo et al84 | AD, 5 affected in 3 generations | 847-1600 | ΔG in TPO 5′-UTR84 | Frame shift in uORF785 | ||
| Kikuchi et al86 | AD, 4 affected in 3 generations | 833-1986 | G > T in TPO 5′-UTR87 | Premature stop codon in uORF787 | ||
| Jorgensen et al88 | AD | 700-1000 | Vaso-occlusive | A > G in TPO intron 3, position +588 | Polyclonal hematopoiesis |
AD indicates autosomal dominant; TPO, thrombopoietin uORF, upstream open reading frame.