Table 1. The FPN Q248H mutation is associated with protection from anemia, hemolysis, and iron deficiency in community-based children.
Analyses were adjusted for age, sex, and country. CRP, C-reactive protein; MCV, mean corpuscular volume; sTfR, soluble transferrin receptor; TSAT, transferrin saturation; ZPP, zinc protoporphyrin.
| Q248H* | WT | ||||||
| Category | All, n | Q248H, n | n (%) | WT, n | n (%) | OR (95% CI) | P |
| Anemia† | 2666 | 237 | 111 (46.8) | 2429 | 1305 (53.7) | 0.75 (0.57 to 0.98) | 0.037 |
| Iron deficiency‡ | 3065 | 325 | 98 (30.2) | 2740 | 933 (34.1) | 0.77 (0.60 to 0.99) | 0.046 |
| Iron deficiency anemia§ | 2363 | 208 | 35 (16.8) | 2155 | 435 (20.2) | 0.77 (0.52 to 1.14) | 0.19 |
| Inflammation║ | 3149 | 334 | 66 (19.8) | 2815 | 587 (20.9) | 0.94 (0.70 to 1.25) | 0.65 |
| Biomarkers | All, n | Q248H, n | Geometric mean (SD) | WT, n | Geometric mean (SD) |
Estimate (95% CI) |
P |
| Hemoglobin, g/dl | 2666 | 237 | 10.81 (1.15) | 2429 | 10.59 (1.16) | 0.21 (0.01 to 0.40) | 0.036 |
| MCHC, g/dl | 1537 | 131 | 33.10 (1.04) | 1406 | 32.87 (1.04) | 0.27 (0.05 to 0.50) | 0.017 |
| MCV, fL | 2324 | 205 | 72.98 (1.12) | 2119 | 72.76 (1.12) | 0.16 (−0.87 to 1.19) | 0.76 |
| Haptoglobin, μmol/liter | 587 | 50 | 133.22 (1.98) | 537 | 109.32 (1.87) | 0.20 (0.02 to 0.38) | 0.030 |
| Ferritin, μg/liter | 3065 | 325 | 20.80 (2.53) | 2740 | 20.03 (2.84) | 0.08 (−0.03 to 0.20) | 0.16 |
| Hepcidin, μg/liter | 3080 | 319 | 8.31 (3.48) | 2761 | 7.33 (3.87) | 0.14 (−0.02 to 0.30) | 0.089 |
| sTfR, mg/liter | 3091 | 325 | 11.98 (1.66) | 2766 | 13.30 (1.67) | −0.07 (−0.16 to 0.01) | 0.088 |
| Iron, μmol/liter | 459 | 45 | 5.45 (1.91) | 414 | 4.83 (2.35) | 0.14 (−0.10 to 0.37) | 0.25 |
| Transferrin, g/liter | 2380 | 258 | 2.62 (1.28) | 2122 | 2.70 (1.27) | −0.06 (−0.14 to 0.02) | 0.14 |
| TSAT, % | 430 | 40 | 7.89 (2.13) | 390 | 6.95 (2.62) | 0.09 (−0.18 to 0.36) | 0.52 |
| ZPP, μmol/mol heme | 684 | 66 | 97.43 (1.80) | 618 | 114.63 (1.77) | −0.17 (−0.31 to −0.03) | 0.018 |
| CRP, mg/liter | 2403 | 263 | 1.08 (5.07) | 2140 | 1.35 (5.44) | −0.19 (−0.41 to 0.02) | 0.079 |
| ACT, g/liter | 737 | 68 | 0.47 (1.34) | 669 | 0.44 (1.30) | 0.05 (−0.01 to 0.12) | 0.12 |
*Heterozygotes and homozygotes.
†Anemia was defined as hemoglobin <11 g/dl.
‡Iron deficiency was defined as plasma ferritin <12 or <30 μg/liter in the presence of inflammation in children <5 years or <15 μg/liter in children ≥5 years.
§Iron deficiency anemia was defined as iron deficiency with anemia.
║Inflammation was defined as C-reactive protein >5 mg/liter or ACT >0.6 g/liter in The Gambia.