Table 2. Hematologic and molecular diagnostic data of patients with SCA.
Note:*RBC, red blood cell; Hb, hemoglobin concentration; MCV, mean cell volume; MCH, mean corpuscular hemoglobin
Pt. | Age | Sex | RBC (10^12cells/L) | HGB (g/L) | MCV (10^-14 L/cells | MCH (10^-11 g/cells) | B12 (pmol/L) | Folic Acid (nmol/L) | Hb S (%) | Hb A2 (%) | Hb A0 (%) | Hb F (%) | Genotype (Only pathogenic variants shown) | Phenotype |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 19 | M | 2.82 | 86 | 8.76 | 3.05 | 231 | > 45 | 61.7 | 4.5 | 10.7 | 28 | - | Hb S/β |
2 | 38 | F | 3.69 | 84 | 7.05 | 2.28 | 312 | 24 | 46.4 | 5.8 | 46.2 | 1.6 | heterozygous c.20A>T, heterozygous c.25_26delAA | Hb S/β0 |
3 | 40 | F | 3.46 | 91 | 7.80 | 2.63 | 188 | > 45 | 44.9 | 5.4 | 44.2 | 5.5 | heterozygous c.20A>T | Hb S Carrier |
4 | 35 | F | 2.84 | 65 | 7.15 | 2.29 | 154 | 17 | 50.8 | 5.5 | 40.7 | 3.0 | heterozygous c.20A>T, heterozygous c.316-106C>G | Hb S/β+ |
5 | 35 | F | 2.06 | 76 | 10.19 | 3.69 | 364 | 15 | 69.9 | 4.9 | 20.3 | 4.9 | homozygous c.20A>T | Hb SS |
6 | 54 | M | 5.48 | 120 | 6.55 | 2.19 | - | - | - | 5.3 | 14.9 | 1.8 | heterozygous c.93-21 G>A, heterozygous c.364G>A | Hb O-Arab/β+ |
7 | 38 | F | 3.37 | 74 | 6.71 | 2.20 | - | - | 72.5 | 6.1 | 13.2 | 8.2 | herterozygousc.20A>T, heterozygous c.93-21G>A | Hb S/β+ |
8 | 24 | F | 2.55 | 59 | 7.37 | 2.31 | - | 17 | 76.7 | 6.9 | 9.0 | 7.4 | heterozygous c.20A>T, heterozygous c.316-106C>G | Hb S/β+ |
9 | 42 | M | 2.84 | 86 | 8.59 | 3.03 | 441 | 39 | 82.2 | 4.9 | 2.9 | 10 | homozygous c.20A>T | Hb SS |
10 | 60 | F | 2.19 | 85 | 11.05 | 3.88 | 242 | 18 | 48.3 | 5.2 | 4.0 | 42.5 | heterozygous c.315+1G>A, heterozygous c.20A>T | Hb S/β0 |
11 | 54 | F | 2.72 | 53 | 5.90 | 1.95 | 352 | - | 82.8 | 6.1 | 3.4 | 7.7 | - | Hb S/β |
12 | 26 | M | 3.45 | 96 | 7.68 | 2.78 | 245 | 12 | 77 | 3.7 | 4.6 | 14.7 | homozygous c.20A>T | Hb SS |
13 | 30 | F | 2.61 | 100 | 9.89 | 3.83 | - | - | 78.5 | 4.7 | 3.0 | 13.8 | homozygous c.20A>T | Hb SS |
14 | 18 | F | 3.79 | 92 | 7.28 | 2.43 | - | - | 69.5 | 6.5 | 11.4 | 12.6 | heterozygous c.20A>T, heterozygous c.93-21G>A | Hb S/β+ |