Table 3 Differences in haematological, cardiometabolic and anthropometrics traits between carriers and non-carriers of HBB mutations. width RDW-SD in Pomak, RDW-a in Manolis.
Trait | Unit | Pomak | MANOLIS | ||||||
---|---|---|---|---|---|---|---|---|---|
Type | Beta | SE | P value | Type | Beta | SE | P value | ||
Red cell distribution | fl | b+ | − 10.45 | 0.74 | < 2e−16 | b+ | − 16.78 | 0.90 | < 2e−16 |
b0 | − 12.06 | 2.28 | 1.4e−07 | b0 | − 17.28 | 0.97 | < 2e−16 | ||
HbO | − 6.42 | 0.30 | < 2e−16 | HbS | − 6.92 | 1.81 | 1.4E−04 | ||
Red blood cell count | 10^12/l | b+ | 1.02 | 0.08 | < 2e−16 | b+ | 0.88 | 0.08 | < 2e−16 |
b0 | 0.82 | 0.26 | 1.3E−03 | b0 | 1.03 | 0.08 | < 2e−16 | ||
HbO | 0.30 | 0.03 | < 2e−16 | HbS | 0.15 | 0.14 | 0.30 | ||
Haemoglobin | g/l | b+ | − 1.92 | 0.28 | 4.5e−12 | b+ | − 1.85 | 0.20 | < 2e−16 |
b0 | − 2.70 | 0.84 | 1.4e−03 | b0 | − 2.15 | 0.21 | < 2e−16 | ||
HbO | 0.20 | 0.11 | 0.07 | HbS | − 0.68 | 0.37 | 0.07 | ||
Haematocrit | % | b+ | − 2.82 | 0.71 | 7.4e−05 | b+ | − 4.70 | 0.59 | 3.7E−15 |
b0 | − 5.71 | 2.17 | 8.7e−03 | b0 | − 5.50 | 0.62 | < 2e−16 | ||
HbO | − 1.09 | 0.29 | 1.3e−04 | HbS | − 2.39 | 1.09 | 0.03 | ||
Mean corpuscular volume | fl | b+ | − 20.35 | 1.06 | < 2e−16 | b+ | − 21.42 | 0.83 | < 2e−16 |
b0 | − 24.49 | 3.27 | 1.1e−13 | b0 | − 24.20 | 0.87 | < 2e−16 | ||
HbO | − 7.43 | 0.43 | < 2e−16 | HbS | − 7.21 | 1.54 | 3.2E−06 | ||
Mean corpuscular haemoglobin | pg | b+ | − 8.47 | 0.46 | < 2e−16 | b+ | − 7.79 | 0.31 | < 2e−16 |
b0 | − 9.67 | 1.42 | 1.6e−11 | b0 | − 8.77 | 0.33 | < 2e−16 | ||
HbO | − 1.34 | 0.19 | 1.3e−12 | HbS | − 2.18 | 0.58 | 1.9E−04 | ||
Mean corpuscular haemoglobin concentration | g/dl | b+ | − 2.51 | 0.25 | < 2e−16 | b+ | − 0.64 | 0.15 | 2.2E−05 |
b0 | − 2.40 | 0.77 | 1.8e−03 | b0 | − 0.67 | 0.16 | 2.9E−05 | ||
HbO | 1.39 | 0.10 | < 2e−16 | HbS | 0.41 | 0.28 | 0.14 | ||
Platelet count | 10^9/l | b+ | 26.81 | 12.64 | 0.03 | b+ | 6.38 | 8.73 | 0.46 |
b0 | − 7.31 | 38.76 | 0.85 | b0 | − 8.64 | 9.19 | 0.35 | ||
HbO | 5.53 | 5.11 | 0.28 | HbS | − 41.88 | 16.18 | 9.8E−03 | ||
Platelet distribution width | fl | b+ | 0.21 | 0.46 | 0.64 | b+ | 0.42 | 0.19 | 0.03 |
b0 | 0.33 | 1.87 | 0.86 | b0 | 0.87 | 0.21 | 5.4E−05 | ||
HbO | 0.62 | 0.18 | 4.2e−04 | HbS | − 0.56 | 0.40 | 0.16 | ||
Mean platelet volume | fl | b+ | − 0.22 | 0.24 | 0.35 | b+ | 0.18 | 0.14 | 0.21 |
b0 | − 0.71 | 0.97 | 0.46 | b0 | 0.44 | 0.15 | 3.1E−03 | ||
HbO | 0.34 | 0.09 | 1.6e−04 | HbS | − 0.36 | 0.26 | 0.16 | ||
Plateletcrit | % | b+ | b+ | 0.01 | 0.01 | 0.08 | |||
b0 | b0 | 0.01 | 0.01 | 0.31 | |||||
HbO | HbS | − 0.05 | 0.01 | 5.8E−04 | |||||
Large platelet distribution ratio | % | b+ | − 0.45 | 1.82 | 0.80 | b+ | 2.24 | 0.92 | 0.02 |
b0 | − 3.30 | 7.45 | 0.66 | b0 | 4.70 | 1.00 | 2.9E−06 | ||
HbO | 2.77 | 0.70 | 7.5e−05 | HbS | − 2.74 | 1.86 | 0.14 | ||
Granulocyte count | 10^9/l | b+ | b+ | 0.38 | 0.25 | 0.12 | |||
b0 | b0 | 0.79 | 0.27 | 3.4E−03 | |||||
HbO | HbS | − 0.35 | 0.50 | 0.49 | |||||
White blood cell count | 10^9/l | b+ | 0.53 | 0.42 | 0.21 | b+ | 0.67 | 0.30 | 0.03 |
b0 | 0.70 | 1.28 | 0.58 | b0 | 0.87 | 0.32 | 6.5E−03 | ||
HbO | 1.25 | 0.17 | 1.6e−13 | HbS | − 0.76 | 0.56 | 0.18 | ||
Lymphocyte count | 10^9/l | b+ | 0.38 | 0.16 | 0.01 | b+ | 0.22 | 0.12 | 0.05 |
b0 | 1.29 | 0.48 | 7.2e−03 | b0 | − 0.03 | 0.12 | 0.78 | ||
HbO | 0.36 | 0.06 | 1.3e−08 | HbS | − 0.38 | 0.22 | 0.08 | ||
Neutrophil count | 10^3/L | b+ | − 0.27 | 0.39 | 0.48 | b+ | |||
b0 | − 0.54 | 1.03 | 0.60 | b0 | |||||
HbO | 0.77 | 0.14 | 9.8e−08 | HbS | |||||
Mixed cell count | 10^3/L | b+ | 0.05 | 0.07 | 0.47 | b+ | 0.02 | 0.02 | 0.34 |
b0 | − 0.05 | 0.18 | 0.76 | b0 | 0.02 | 0.03 | 0.49 | ||
HbO | 0.03 | 0.02 | 0.19 | HbS | − 0.04 | 0.05 | 0.44 | ||
C-reactive protein | nmol/L | b+ | − 1.32 | 14.12 | 0.93 | b+ | 3.08 | 16.76 | 0.85 |
b0 | − 8.13 | 40.97 | 0.84 | b0 | 3.83 | 19.69 | 0.85 | ||
HbO | 0.10 | 5.85 | 0.99 | HbS | − 2.16 | 28.97 | 0.94 | ||
Ferritin | pmol/L | b+ | 45.05 | 41.42 | 0.28 | b+ | 12.46 | 41.02 | 0.76 |
b0 | 302.18 | 127.04 | 0.02 | b0 | 91.95 | 46.69 | 0.05 | ||
HbO | 24.78 | 17.07 | 0.15 | HbS | − 66.81 | 71.68 | 0.35 | ||
Iron | mmol/L | b+ | − 1.14 | 1.59 | 0.47 | b+ | 0.52 | 0.86 | 0.54 |
b0 | 3.86 | 4.86 | 0.43 | b0 | 1.59 | 0.98 | 0.10 | ||
HbO | 1.57 | 0.65 | 0.02 | HbS | − 2.70 | 1.50 | 0.07 | ||
Glucose | mmol/l | b+ | 0.01 | 0.40 | 0.99 | b+ | − 0.31 | 0.28 | 0.26 |
b0 | − 1.61 | 1.21 | 0.19 | b0 | 0.38 | 0.31 | 0.23 | ||
HbO | − 0.07 | 0.16 | 0.66 | HbS | 0.98 | 0.48 | 0.04 | ||
Insulin | pmol/L | b+ | − 8.46 | 28.31 | 0.77 | b+ | − 11.73 | 22.27 | 0.60 |
b0 | − 38.26 | 86.83 | 0.66 | b0 | 92.40 | 25.09 | 0.00 | ||
HbO | − 11.76 | 11.67 | 0.31 | HbS | 37.28 | 38.51 | 0.33 | ||
High-density lipoprotein | mmol/L | b+ | − 0.21 | 0.07 | 3.2e−03 | b+ | − 0.04 | 0.05 | 0.47 |
b0 | − 0.25 | 0.22 | 0.25 | b0 | − 0.10 | 0.06 | 0.09 | ||
HbO | − 0.05 | 0.03 | 0.12 | HbS | − 0.12 | 0.09 | 0.15 | ||
Low-density lipoprotein | mmol/L | b+ | − 0.14 | 0.21 | 0.50 | b+ | − 0.43 | 0.14 | 2.5E−03 |
b0 | 1.21 | 0.64 | 0.06 | b0 | − 0.44 | 0.16 | 6.4E−03 | ||
HbO | 0.01 | 0.09 | 0.90 | HbS | 0.02 | 0.25 | 0.93 | ||
Triglycerides | mmol/L | b+ | − 0.06 | 0.21 | 0.79 | b+ | − 0.16 | 0.17 | 0.35 |
b0 | 0.02 | 0.63 | 0.98 | b0 | − 0.25 | 0.19 | 0.19 | ||
HbO | 0.01 | 0.08 | 0.89 | HbS | 0.25 | 0.30 | 0.41 | ||
Total cholesterol | mmol/L | b+ | − 0.38 | 0.23 | 0.11 | b+ | − 0.53 | 0.16 | 9.6E−04 |
b0 | 0.96 | 0.72 | 0.18 | b0 | − 0.65 | 0.18 | 4.3E−04 | ||
HbO | − 0.03 | 0.10 | 0.77 | HbS | 0.01 | 0.28 | 0.97 | ||
Thyroid stimulating hormone | uIU/ml | b+ | − 0.03 | 0.87 | 0.97 | b+ | − 0.23 | 0.49 | 0.64 |
b0 | 0.75 | 3.36 | 0.82 | b0 | − 0.54 | 0.58 | 0.35 | ||
HbO | − 0.19 | 0.32 | 0.56 | HbS | − 0.20 | 0.87 | 0.82 | ||
Free thyroxine | ng/dl | b+ | − 0.12 | 0.05 | 0.01 | b+ | 0.07 | 0.03 | 0.03 |
b0 | − 0.11 | 0.19 | 0.56 | b0 | 0.00 | 0.04 | 0.99 | ||
HbO | 0.05 | 0.02 | 0.01 | HbS | 0.01 | 0.06 | 0.85 | ||
Osteocalcin | ng/ml | b+ | 2.18 | 3.20 | 0.50 | b+ | 2.19 | 1.34 | 0.10 |
b0 | 9.15 | 10.56 | 0.39 | b0 | − 1.31 | 1.59 | 0.41 | ||
HbO | 1.07 | 1.18 | 0.36 | HbS | − 2.39 | 2.31 | 0.30 | ||
Bilirubin | mg/dl | b+ | 0.08 | 0.02 | 1.2e−04 | b+ | 0.04 | 0.01 | 2.2E−03 |
b0 | 0.07 | 0.08 | 0.39 | b0 | 0.05 | 0.01 | 8.8E−04 | ||
HbO | 0.04 | 0.01 | 2.8e−07 | HbS | − 0.02 | 0.02 | 0.39 | ||
Alanine aminotransferase | iu/l | b+ | − 1.15 | 1.84 | 0.53 | b+ | − 5.42 | 1.79 | 2.5E−03 |
b0 | − 4.95 | 7.10 | 0.49 | b0 | − 3.82 | 2.13 | 0.07 | ||
HbO | 0.62 | 0.67 | 0.36 | HbS | − 4.37 | 3.10 | 0.16 | ||
Gamma-glutamyl transferase | iu/l | b+ | 4.49 | 3.95 | 0.26 | b+ | − 5.76 | 3.24 | 0.08 |
b0 | − 6.96 | 15.22 | 0.65 | b0 | − 0.80 | 3.86 | 0.84 | ||
HbO | 2.53 | 1.44 | 0.08 | HbS | − 6.24 | 5.79 | 0.28 | ||
Leptin | ng/ml | b+ | b+ | − 1.79 | 3.51 | 0.61 | |||
b0 | b0 | − 7.42 | 4.52 | 0.10 | |||||
HbO | HbS | 13.75 | 6.35 | 0.03 | |||||
Adiponectin | ug/ml | b+ | b+ | − 0.54 | 0.49 | 0.27 | |||
b0 | b0 | − 0.77 | 0.54 | 0.15 | |||||
HbO | HbS | − 2.31 | 0.95 | 0.01 | |||||
Weight | kg | b+ | 3.94 | 3.29 | 0.23 | b+ | − 0.71 | 2.22 | 0.75 |
b0 | − 4.97 | 10.09 | 0.62 | b0 | 1.34 | 2.50 | 0.59 | ||
HbO | 0.12 | 1.34 | 0.93 | HbS | 6.91 | 3.67 | 0.06 | ||
Height | cm | b+ | 0.66 | 1.54 | 0.67 | b+ | − 0.41 | 0.09 | 7.8E−06 |
b0 | 5.30 | 4.60 | 0.25 | b0 | − 2.01 | 1.12 | 0.07 | ||
HbO | − 0.53 | 0.61 | 0.39 | HbS | 5.98 | 1.69 | 4.0E−04 | ||
Waist-hip ratio | b+ | 0.03 | 0.02 | 0.11 | b+ | − 0.01 | 0.01 | 0.52 | |
b0 | 0.02 | 0.06 | 0.70 | b0 | 0.02 | 0.01 | 0.13 | ||
HbO | 0.01 | 0.01 | 0.08 | HbS | 0.00 | 0.02 | 0.85 | ||
Body-mass-index | b+ | 1.65 | 1.21 | 0.18 | b+ | − 0.38 | 0.82 | 0.65 | |
b0 | − 3.75 | 3.62 | 0.30 | b0 | 1.25 | 0.92 | 0.17 | ||
HbO | 0.27 | 0.48 | 0.57 | HbS | 0.61 | 1.37 | 0.66 | ||
Gestation age | Months | b+ | b+ | − 0.41 | 0.09 | 7.8E−06 | |||
b0 | b0 | 0.03 | 0.08 | 0.66 | |||||
HbO | HbS | 0.03 | 0.10 | 0.72 |