Table 1.

Hematology and HBB and SUPT5H genotype data of nonlinked β-thalassemia trait families and unrelated individuals

IndividualSexAge, y*Hb, g/LHt, L/LMCV, fLMCH, pgHbA2, %†HBB genotypeHBA genotypeSUPT5H genotypeMolecular effect
Dutch family 1 with unexplained elevated HbA2and no variants in HBB 
 F1-II.1 M 66 111 0.40 91 25.3 5.1 Norm Norm c.[458+1G>A];[=] Splice donor site 
 F1-II.2‡ M 65 — — — — 5.7 Norm Norm c.[458+1G>A];[=]  
 F1-II.3 F 62 108 0.32 84 28.0 5.7 Norm Norm c.[458+1G>A];[=]  
 F1-III.2 F 42 111 0.35 79 25.6 4.7 Norm Norm c.[458+1G>A];[=]  
 F1-III.3 F 40 116 0.33 79 25.4 4.8 Norm Norm c.[458+1G>A];[=]  
 F1-III.4 F 3 — 0.37 82 — 5.5 Norm Norm c.[458+1G>A];[=]  
 F1-IV.3 M 12 95 0.31 71 21.6 5.2 Norm Norm c.[458+1G>A];[=]  
 F1-IV.4 M 12 114 0.35 73 24.2 5.2 Norm Norm c.[458+1G>A];[=]  
 F1-IV.2 M 15 140 0.40 73 22.9 5.7 Norm HBA2:c.[96-2A>G];[=] c. [458+1G>A];[=]  
 F1-III.1 M 54 142 0.46 81 24.8 2.4 Norm HBA2:c.[96-2A>G];[=] Norm  
 F1-IV.1 F 18 109 0.35 73 23.3 2.5 Norm HBA2:c.[96-2A>G];[=] Norm  
 F1-I.1 F 85 131 0.39 87 29.0 2.8 Norm Norm Norm  
 F1-IV.5 M 6 127 0.37 80 26.2 2.5 Norm Norm Norm  
Dutch family 2 with unexplained elevated HbA2and no variants in HBB 
 F2-I.2 F 46 136 0.39 77 27.7 5.0 Norm Norm c.[2259-3C>A];[=] Splice acceptor site 
 F2-II.3 F 16 135 0.41 77 25.8 4.7 Norm Norm c.[2259-3C>A];[=]  
 F2-II.4 M 11 134 0.39 72 24.2 4.9 Norm Norm c.[2259-3C>A];[=]  
 F2-I.1 M 44 172 0.50 94 32.2 2.6 Norm Norm Norm  
 F2-II.1 F 22 138 0.42 93 30.6 2.9 Norm Norm Norm  
 F2-II.2 F 18 143 0.43 88 29.0 2.7 Norm Norm Norm  
Individuals with unexplained elevated HbA2and no variants in HBB 
 Wlt.1 M 65 121 0.35 77 26.2 5.3 Norm Norm c.[1979del;[=] p.(Gly660Valfs*6) 
 Wlt.2 M 39 138 0.43 76 24.5 5.1 Norm Norm c.[1979del;[=]  
 Li M 54 148 0.46 80 25.8 4.7 Norm Norm c.[1782_1785del];[=] p.(Ile594Metfs*2) 
 TW M 6 113 0.38 79 23.7 5.2 Norm Norm c.[2725del];[=] p.(Gln909Argfs*45) 
 S (French) F 46 140 n.d. 78 25.4 4.8 Norm Norm c.[817del];[=] p.(Leu273*) 
 Cl (French) F 17 123 n.d. 71 22.2 5.2 Norm Norm c.[817del];[=]  
Greek family (F3) with a combination of β-thalassemia trait and a SUPT5H variant 
 F3-I.1 F  97 0.32 57 17.1 8.5 c. [118C>T];[=] Norm c.[1374+2T>C];[=] Splice donor site 
 F3-II.2 F  97 0.31 57 17.7 11.1 c. [118C>T];[=] Norm c.[1374+2T>C];[=]  
 F3-II.3 M  149 0.44 75 25.3 5.0 Norm Norm c.[1374+2T>C];[=]  
 F3-III.1 M  121 0.36 70 23.1 5.3 Norm Norm c.[1374+2T>C];[=]  
 F3-II.4 F  123 0.38 67 21.5 5.6 c. [118C>T];[=] -α3.7/αα Norm  
 F3-I.2 M  139 0.41 90 30.1 1.7 Norm Norm Norm  
Greek family (F4) with a combination of β-thalassemia trait and a SUPT5H variant 
 F4-III.1 M 2 102 0.31 46 15.0 12.4 c.[92+1G>A];[=] Norm c.[1741_1744dup];[=] p.(Arg582Glnfs*21) 
 F4-I.1 M 58 127 0.40 75 23.7 5.2 Norm Norm c.[1741_1744dup];[=]  
 F4-II.2 F 33 119 0.36 69 22.5 5.8 Norm Norm c.[1741_1744dup];[=]  
 F4-II.1 M 31 131 0.40 58 19.1 5.4 c.[92+1G>A];[=] Norm Norm  
IndividualSexAge, y*Hb, g/LHt, L/LMCV, fLMCH, pgHbA2, %†HBB genotypeHBA genotypeSUPT5H genotypeMolecular effect
Dutch family 1 with unexplained elevated HbA2and no variants in HBB 
 F1-II.1 M 66 111 0.40 91 25.3 5.1 Norm Norm c.[458+1G>A];[=] Splice donor site 
 F1-II.2‡ M 65 — — — — 5.7 Norm Norm c.[458+1G>A];[=]  
 F1-II.3 F 62 108 0.32 84 28.0 5.7 Norm Norm c.[458+1G>A];[=]  
 F1-III.2 F 42 111 0.35 79 25.6 4.7 Norm Norm c.[458+1G>A];[=]  
 F1-III.3 F 40 116 0.33 79 25.4 4.8 Norm Norm c.[458+1G>A];[=]  
 F1-III.4 F 3 — 0.37 82 — 5.5 Norm Norm c.[458+1G>A];[=]  
 F1-IV.3 M 12 95 0.31 71 21.6 5.2 Norm Norm c.[458+1G>A];[=]  
 F1-IV.4 M 12 114 0.35 73 24.2 5.2 Norm Norm c.[458+1G>A];[=]  
 F1-IV.2 M 15 140 0.40 73 22.9 5.7 Norm HBA2:c.[96-2A>G];[=] c. [458+1G>A];[=]  
 F1-III.1 M 54 142 0.46 81 24.8 2.4 Norm HBA2:c.[96-2A>G];[=] Norm  
 F1-IV.1 F 18 109 0.35 73 23.3 2.5 Norm HBA2:c.[96-2A>G];[=] Norm  
 F1-I.1 F 85 131 0.39 87 29.0 2.8 Norm Norm Norm  
 F1-IV.5 M 6 127 0.37 80 26.2 2.5 Norm Norm Norm  
Dutch family 2 with unexplained elevated HbA2and no variants in HBB 
 F2-I.2 F 46 136 0.39 77 27.7 5.0 Norm Norm c.[2259-3C>A];[=] Splice acceptor site 
 F2-II.3 F 16 135 0.41 77 25.8 4.7 Norm Norm c.[2259-3C>A];[=]  
 F2-II.4 M 11 134 0.39 72 24.2 4.9 Norm Norm c.[2259-3C>A];[=]  
 F2-I.1 M 44 172 0.50 94 32.2 2.6 Norm Norm Norm  
 F2-II.1 F 22 138 0.42 93 30.6 2.9 Norm Norm Norm  
 F2-II.2 F 18 143 0.43 88 29.0 2.7 Norm Norm Norm  
Individuals with unexplained elevated HbA2and no variants in HBB 
 Wlt.1 M 65 121 0.35 77 26.2 5.3 Norm Norm c.[1979del;[=] p.(Gly660Valfs*6) 
 Wlt.2 M 39 138 0.43 76 24.5 5.1 Norm Norm c.[1979del;[=]  
 Li M 54 148 0.46 80 25.8 4.7 Norm Norm c.[1782_1785del];[=] p.(Ile594Metfs*2) 
 TW M 6 113 0.38 79 23.7 5.2 Norm Norm c.[2725del];[=] p.(Gln909Argfs*45) 
 S (French) F 46 140 n.d. 78 25.4 4.8 Norm Norm c.[817del];[=] p.(Leu273*) 
 Cl (French) F 17 123 n.d. 71 22.2 5.2 Norm Norm c.[817del];[=]  
Greek family (F3) with a combination of β-thalassemia trait and a SUPT5H variant 
 F3-I.1 F  97 0.32 57 17.1 8.5 c. [118C>T];[=] Norm c.[1374+2T>C];[=] Splice donor site 
 F3-II.2 F  97 0.31 57 17.7 11.1 c. [118C>T];[=] Norm c.[1374+2T>C];[=]  
 F3-II.3 M  149 0.44 75 25.3 5.0 Norm Norm c.[1374+2T>C];[=]  
 F3-III.1 M  121 0.36 70 23.1 5.3 Norm Norm c.[1374+2T>C];[=]  
 F3-II.4 F  123 0.38 67 21.5 5.6 c. [118C>T];[=] -α3.7/αα Norm  
 F3-I.2 M  139 0.41 90 30.1 1.7 Norm Norm Norm  
Greek family (F4) with a combination of β-thalassemia trait and a SUPT5H variant 
 F4-III.1 M 2 102 0.31 46 15.0 12.4 c.[92+1G>A];[=] Norm c.[1741_1744dup];[=] p.(Arg582Glnfs*21) 
 F4-I.1 M 58 127 0.40 75 23.7 5.2 Norm Norm c.[1741_1744dup];[=]  
 F4-II.2 F 33 119 0.36 69 22.5 5.8 Norm Norm c.[1741_1744dup];[=]  
 F4-II.1 M 31 131 0.40 58 19.1 5.4 c.[92+1G>A];[=] Norm Norm  

The normal reference ranges for the red cell hematology were according to https://www.royalwolverhampton.nhs.uk/services/service-directory-a-z/pathology-services/departments/haematology/haematology-normal-adult-reference-ranges/.

CE, capillary electrophoresis; F, female; Hb, hemoglobin (normal range for males, 130-180 g/L; normal range for females, 115-165 g/L); HbA2, hemoglobin A2 (normal range, 2.2-3.2%); Ht, hematocrit or packed cell volume (normal range for males, 0.4-0.54 L/L, normal range for females, 0.37-0.47 L/L); M, male; MCH, mean corpuscular hemoglobin (normal range, 27.0-32 pg); MCV, mean cellular volume (normal range, 80-100 fL); n.d., not done; —, data not available.

*

Age at measurement.

†

Measured by capillary electrophoresis.

‡

β/α-Globin chain synthesis was performed, ratio 0.66.

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