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. 2022 Jan 21;12:1131. doi: 10.1038/s41598-021-04436-9

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

We grouped HBB mutations into those that either reduce (b +) or abolish (b0) expression of beta-globin (see Table 2). We also separated c.364C>A (HbO-Arab) in Pomak and sickle cell HbS in MANOLIS. Associations significant after Bonferroni correction (p value < 0.0013) were bolded.