Table 2.
Hematological indices and percentage of Hb variants in either the HBA1 or HBA2 genes and the α2/α1 ratio of the average percentage of the abnormal Hb for heterozygotes with a normal complement of α-globin genes (αα/αα)
| Hb variant | Racial/ethnic background | Samples | Hb (g/dL) | MCV (fL) | Hb X (%) | Hb S (%) | α2/α1 ratio | References | ||
|---|---|---|---|---|---|---|---|---|---|---|
| ΗΒα1 | ΗΒα2 | HBAa | ||||||||
| p.N9S (c.29A>G) | ||||||||||
| Hb Zurich-Hottingen | Portuguese | 1 | 11.7 | 75 | – | N.M. | – | – | N.M. | [24] |
| Hb Zurich-Hottingen | Portuguese | 1 | 13.8 | 78 | – | N.M. | – | – | [24] | |
| Hb Anadour | Moroccan | 1 | Normal | Normal | N.M. | – | – | – | HbVar (ID 2594) b | |
| p.A12D (c.38C>A) | ||||||||||
| Hb J-Paris-I | Asian c | 4 | 12.7 ± 1.8 | 89.2 ± 6.5 | 26.5 ± 1.2 | – | – | – | 0.98 | This report |
| Hb J-Paris-I | N.A. | 1 | Normal | Normal | 20.7 | – | – | – | [14] | |
| Hb J-Paris-I | Asian c | 1 | 14.9 | 91.2 | – | 26 | – | – | This report | |
| Hb J-Paris-I | N.A. | 2 | Normal | Normal | – | 24 | – | – | [14] | |
| p.H20Q (c.63C>A) | ||||||||||
| Hb Le Lamentin | N.A. | 1 | Normal | Normal | – | 28 | – | – | 1.10 | [14] |
| Hb Le Lamentin | British | 7 | 11.4 ± 4.7 | 91.9 ± 6.0 | 25.4 ± 1.1 | – | – | – | This report | |
| Hb Le Lamentin | African | 1 | 11.7 | 96.1 | 14.2 | – | – | 36.9 | This report | |
| p.E27D (c.84G>C) | ||||||||||
| Hb Hekinan | Chinese (Macau) | 1 | 12.8 | 94 | 13.4 | – | – | – | N.A. | [25] |
| Hb Hekinan | Chinese (Macau) | 1 | 10.8 | 92 | 13.7 | – | – | – | [25] | |
| Hb Hekinan | Chinese (Macau) | 1 | Normal | Normal | 12.9 | – | – | – | [25] | |
| Hb Hekinan | Taiwanese | 1 | 9.9 | 72.9 | 14.7 | – | – | – | [26] | |
| Hb Hekinan | French (Guyana) | 1 | Normal | Normal | – | – | 13 | – | [27] | |
| p.D47H (c.142G>C) | ||||||||||
| Hb Hasharon | Jewish (Brazilian) | 1 | 12.6 | 79 | 18 | – | – | – | 1.15 | This report |
| Hb Hasharon | Jewish (British) | 1 | 12.1 | 83 | 18.9 | – | – | – | This report | |
| Hb Hasharon | Jewish (British) | 10 | 14.4 ± 3.8 | 87.5 ± 6.0 | – | 21.2 ± 0.9 | – | – | This report | |
| Hb Hasharon | Jewish | 3 | 14.4 | 95 | – | 17.4 | – | – | [14] | |
| p.H50Q (c.153C>G) | ||||||||||
| Hb Frankfurt | German | 1 | 14.3 | 85 | 24 | – | – | – | 1.13 | [5] |
| Hb Frankfurt | Corsican | 1 | Normal | Normal | – | 27 | – | – | [5] | |
| p.G51R (c.154G>C) | ||||||||||
| Hb Russ | Caucasian/Chinese | 2 | Normal | Normal | 11.5 | – | – | – | 1.53 | [28] |
| Hb Russ | British | 1 | 11.2 | 88 | 14.6 | – | – | – | This report | |
| Hb Russ | British | 1 | 12.9 | 87 | – | 22.3 | – | – | This report | |
| p.V55A (c.167T>C) | ||||||||||
| Hb Gerland | French | 1 | 15 | 81.7 | – | 15.9 | – | – | 1.67d | [29], personal communication |
| Hb Gerland [A1] | Southeast Asian | 1 | 11.5 | 71 | 9.5d | – | – | – | [30] | |
| p.N68H (c.205A>C) | ||||||||||
| Hb St. Truiden | Belgian | 1 | 15.6 | 90 | – | 24 | – | – | 1.28 | HbVar (ID 2591) b |
| Hb Jeddah | Saudi Arabian | 1 | 13.4 | 82.7 | 17.8 | – | – | N.A. | [31] | |
| Hb Jeddah | Yemenite | 1 | 11.6 | 90.3 | 19.6 | – | – | – | [31] | |
| Hb Jeddah | Emirati (Abu Dhabi) | 1 | 12.6 | 72.9 | N.A. | – | – | – | [31] | |
| p.D75Y (c.226G>T) | ||||||||||
| Hb Winnipeg | American | 10 | 12.9 ± 1.3 | 90.7 ± 6.8 | 14.1 ± 0.6 | – | – | – | 1.3 | [32] |
| Hb Winnipeg | French | 38 | 13.0 ± 1.9 | 91.2 ± 7.3 | 13.0 ± 0.7 | – | – | – | This report | |
| Hb Winnipeg | French | 11 | 13.6 ± 0.8 | 91.9 ± 6.7 | – | 16.9 ± 0.9 | – | – | This report | |
| Hb Winnipeg | Greek | 1 | 13.6 | 88.9 | – | 16.1 | – | – | This report | |
| p.P77H (c.233C>A) | ||||||||||
| Hb Toulon | African | 1 | 9.8 | 94.4 | 23 | – | – | – | 1.08 | This report |
| Hb Toulon | British | 1 | 13.3 | 91 | – | 26.3 | – | – | This report | |
| Hb Toulon | French | 1 | Normal | Normal | – | 24 | – | – | [33] | |
| Hb Toulon | Canadian | 1 | Normal | Normal | – | 25.3 | – | – | [34] | |
| Hb Toulon | Italian | 1 | 13.1 | 91 | – | 24 | – | – | [35] | |
| p.N78K (c.237C>A) | ||||||||||
| Hb Stanleyville-II | Central African | 5 | Normal | Normal | – | – | N.A. | – | N.A. | [12] |
| Hb Stanleyville-II | French | 6 | Normal | Normal | – | – | 24 | – | [36] | |
| Hb Stanleyville-II | Caucasian | 1 | 11.0 | 88 | – | 15.3 | – | – | This report | |
| Hb Stanleyville-II | African | 1 | 14.1 | 90 | – | 11.1 | – | 42.7 | This report | |
| p.D94N (c.283G>A) | ||||||||||
| Hb Titusville | Swedish/Finish | 1 | 13.3 | 91 | – | 15.6 | – | – | 1.13 | [37] |
| Hb Titusville | Swedish/Finish | 1 | 13.6 | 88 | – | 16 | – | – | [37] | |
| Hb Titusville | Scottish | 1 | 15.8 | 85.9 | 17 | – | – | – | [38] | |
| Hb Titusville | Scottish | 1 | 14.5 | 91 | 11 | – | – | – | [38] | |
| Hb Titusville | Scottish | 1 | Normal | Normal | 14 | – | – | – | [38] | |
| p.A120E (c.362C>A) | ||||||||||
| Hb J-Meerut | N.A. | 1 | Normal | Normal | 18.4 | – | – | – | 1.22 | [14] |
| Hb J-Meerut | Asian c | 15 | 11.9 ± 2.1 | 85.4 ± 10 | 20.5 ± 2.0 | – | – | – | This report | |
| Hb J-Meerut | N.A. | 1 | Normal | Normal | – | 23 | – | – | [14] | |
N.A. not available, N.M. not measurable, Normal cases where hematological data were normal but hematological indices were not available
aThis percentage was not included in the calculation of the α2/α1 ratio of the average percentage of the abnormal Hb
bDetailed information for these variants can be retrieved from HbVar from the URL: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=ID, by replacing “ID” with the respective HbVar ID number
cPakistani and Indian
dAverage value from measurements of two independent samples from the same individual (8% and 11%). The variability is most likely due to the slight instability of Hb Gerland.