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Table 1 Hematologic parameters and molecular data

From: Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

  Family 1 Family 2
  Patient 1 Sister of Patient 1 Mother of Patient 1 Patient 2 Brother of Patient 2
Age (years) 6 1.2 38 10 2
RBC (10^6/uL) 2.7 3.4 2.6 2.9 4.7
Hb (g/dL) 6.2 8.7 7.7 7.4 12.4
MCV (fL) 74 80.7 93 90.4 79.4
RDW (%) 34.4 21.3 26.9 35.8 14.3
Retics (% of RBC) 22.60 N.D. 15.83 11.43 1.92
HbA2 (%) 3.2 2.2 4.05 4.3 3.4
HbF (%) 9.5 22.5 12.9 4.0 2.1
XmnI polymorphism +/− +/− +/+ −/− N.D.
β-globin mutation c.375_376 insCCAGT/βN c.375_376 insCCAGT/βN c.375_376 insCCAGT/βN c.349 delC/βN βN/ βN