Table 1 Laboratory and clinical characteristics of the first reported case of Hb Montreal II variant and the largest family affected by the Hb Montreal II and the G-Georgia Hb variants
Characteristics | Normal range (females) | Mother (II.1) | Normal range (males) | Initial case Montreal II | Brother (III.2) | Index patient (III.3) | Father (II.2) | Normal range for age | Nephew (IV.1) |
|---|---|---|---|---|---|---|---|---|---|
Hb variant | No | Montreal II | No | Montreal II | Montreal II/ G-Georgia | Montreal II/ G-Georgia | G-Georgia | No | NA |
Splenomegaly | No | Yes | No | Yes | Yes | Yes | Na | No | NA |
Splenectomy | No | No | No | No | Yes | No | No | No | No |
RBC (T/L) | 3.9–5.0 | 4.11 | 4.2–5.7 | 5.04 | 3.28 | 4.66 | 4.52 | 4.5–5.3 | 3.97 |
Hb (g/L) | 121–154 | 129 | 135–168 | 148 | 89 | 132 | 13.9 | 130–170 | 104 |
MCV (fL) | 80–98 | 105 | 80–98 | 90.7 | 87 | 102 | 88 | 71–83 | 85.6 |
MCH (pg) | 27–33 | 32 | 27–33 | 29.3 | 27 | 30 | 31 | 23.1–28.2 | 26.2 |
MCHC (g/L) | 320–360 | 299 | 320–360 | 323 | 312 | 305 | 351 | 320–359 | 306 |
RDW (%) | 11.5–14.5 | 14.1 | 11.5–14.5 | 14.9 | 17.1 | 13 | 11.8 | 11.5–13.1 | NA |
Reticulocytes (%) | 0.5–2.0 | 9.8 | 0.5–1.6 | 6.8 | 10.3 | 19.8 | 1.2 | 0.5–1.6 | NA |
Heinz bodies (%) | No | NA | No | 1 | NA | 0 | NA | Absent | NA |
Bite cells | No | NA | No | Rare | NA | Rare | NA | Absent | NA |
Basophilic stippling (%) | No | 5 | No | 10 | 5 | 7 | 0 | No | 5 |
LDH (U/L) | < 480 | 728 | < 480 | 297 | 582 | 2342 | 325 | < 480 | NA |
Conjugated bilirubin (µmol/L) | < 5 | 13 | < 5 | 6 | 7 | 6 | 6 | < 5 | NA |
Total bilirubin (µmol/L) | < 17 | 48 | < 17 | 49 | 22 | 83 | 2 | < 17 | NA |
Haptoglobin (g/L) | 0.3–2.0 | < 0.01 | 0.3–2.0 | < 0.06 | NA | < 0.01 | 1.78 | 0.3–2.0 | NA |
AST (U/L) | < 50 | 27 | < 50 | NA | 22 | 91 | NA | < 50 | NA |
ALT (U/L) | < 50 | 18 | < 50 | NA | 27 | 24 | NA | < 50 | NA |
Ferritin (μg/L) | 20–250 | 174 | 20–250 | NA | 771 | 76 | NA | 20–250 | NA |
Pyruvate kinase (U/g Hb) | 7.0–13.5 | Normal | 8.7–16.2 | Normal | Normal | Normal | Normal | - | NA |
G6PD (U/g Hb) | 6.75–11.95 | Normal | 6.75–11.95 | Normal | Normal | Normal | Normal | - | NA |
HbA (%) | 95–96 | Yes | 95–96 | 59.4 | 97.5 | 64.0 | 97.5 | - | NA |
HbA2 (%) | 1.8–3.2 | No | 1.8–3.2 | 3.3 | 2.5 | 3.8 | 2.5 | - | NA |
HbF (%) | < 1.5% | Yes | < 1.5% | 2.7 | < 1 | 1.1 | < 1 | - | NA |
Abnormal Hb (%) | No | 4.11 | No | 26.1 | 0 | 22.8 | 0 | No | NA |