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Table 1 Summary of clinical and genetic results in a cohort of 19 patients with PNH

From: Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH)

Pt Age/Gender WBC (× 10−3/μl) HGB (gm/dl) PLT (x 10−3/μl) ANC (x 10−3/μl) Abs.Retic (per μl) % PNH RBC (III) % PNH RBC (PNH II) %PNH PMN’s Thrombosis History of AA Eculizumab Mutation 1 Mutation 2 Mutation 3 Mutation 4
1 65F 4.5 9.6 165 2.5 299,000 82 1.6 99 No No Yes     
2 46M 3.4 10.6 35 2.2 60,800 13 2 92 Yes Yes Yes I1762V L1721W   
3 50F   11.7 59 5.8   18 52 92 Yes No Yes     
4 32M 3.7 10.5 157 2.5 88,000 26 3.8 97 Yes No Yes I1762V    
5 37F 3 10.8 203 0.9 208,000 94   100 No No Yes     
6 54M 3.7 10.9 122 2.2 132,000 31   78 No No No P363L L1721W   
7 48M 3.7 9.6 103 2.2 91,000 32 2 89 No Yes Yes G355D I1762V I1762V  
8 25F 2.6 8.5 74 1.3 114,000 22 2 91 No No Yes I1762V I1762V   
9 47M 5.1 9.4 175 3.1 117,000 21 4 95 No Yes Yes I1762V    
10 48F 3 9.1 152 1.6 206,000 77   100 No Yes Yes     
11 52M 9.5 11.5 136 8.6 180,000 24   83 No No No I1762V    
12 39F 5.1 9 361 1.7 247,000 91 1.5 97 No Yes Yes I1762V    
13 28M 4.4 11.1 132 2.1 195,000 58   88 Yes Yes Yes G355D I1762V   
14 52F 7.7 9.9 321 3.5 247,000 99 1 > 99 Yes No Yes P363L Y899X L1721W I1762V
15 21F 3.6 12.1 132 1.6 126,000 51 5 80 No No No L1721W    
16 27F 2.4 7.9 123 1.5 46,000 18 20 98 Yes Yes Yes Y867H P1723S I1762V H1778R
17 20F 3.7 8.2 96 1.7 317,000 48   99 No No Yes     
18 61F 4.9 9.2 239 2.2 114,000 44 12 88 No Yes Yes P363L L1721W   
19 55M 2.8 10.8 95 1.8 198,000 85 3 98 Yes Yes Yes L1721W I1762V   
  1. The presence of common polymorphisms in TET2 is indicated in plain text, and the novel nonsense mutation is indicated in italics. Two patients were homozygous for the I1762V polymorphism. The JAK2V617F mutation was not identified in any of these patients; analysis of JAK2 exon 12 was performed for patients 1–14 and patients 16–19, and no mutations were found