Table 1 Patient characteristics of the validation cohort. Blood samples are not routinely taken for FBC or HPLC as part of newborn SCD screening. ‘- ‘= data not collected
Sample ID | Sample Type | Age | Sex | Hb (g/dl) | MCV (fl) | Hb S | Hb A | Hb F | Hb A2 | Diagnosis from standard test (genetic or IEF) | Concordance with Nanopore sequencing |
|---|---|---|---|---|---|---|---|---|---|---|---|
FH | WB | 21 | F | 12.4 | 78.8 | 36.3 | 55.8 | 3.3 | 3.3 | Sickle cell heterozygote | yes |
G213707J | WB | 30 | F | 10.9 | 51.4 | – | 80.9 | 1.1 | 7.8 | Beta+ Thal heterozygote | yes |
G213708H | WB | 33 | M | 11.4 | 47.2 | – | 81.3 | 1.2 | 6.7 | Beta+ Thal heterozygote | yes |
G213709R | WB | 5 | F | 7.9 | 47.3 | – | 1.7 | 97.9 | 3.8 | Beta Thal intermedia | yes |
G213711L | WB | – | F | 10.5 | 47.0 | – | 80.7 | 9.8 | 6.5 | Beta+ Thal heterozygote | yes |
Z | WB | 5 | F | 8.5 | 74.8 | 38.2 | 51.2 | 5.6 | 3.6 | Sickle cell heterozygote | yes |
TMK 1196 | DBS | Newborn | – | – | – | 14.2 | 0.0 | 74.8 | 1.6 | Sickle cell disease | yes |
TMK 1258 | DBS | Newborn | – | – | – | 5.3 | 6.6 | 82.0 | – | Sickle cell heterozygote | yes |
TMK 1259 | DBS | Newborn | – | – | – | 4.8 | 7.4 | 80.6 | – | Sickle cell heterozygote | yes |
TMK 1260 | DBS | Newborn | – | – | – | 8.1 | 13.0 | 69.1 | 0.5 | Sickle cell heterozygote | yes |
TMK 1267 | DBS | Newborn | – | – | – | 3.8 | 4.6 | 83.5 | 1.3 | Sickle cell heterozygote | yes |
TMK 1276 | DBS | Newborn | – | – | – | 9.5 | 16.8 | 62.7 | 0.8 | Sickle cell heterozygote | yes |
TMK 1287 | DBS | Newborn | – | – | – | 12.4 | 0.0 | 80.6 | 0.5 | Sickle cell disease | yes |
TMK 1345 | DBS | Newborn | – | – | – | 12.2 | 0.0 | 78.9 | 1.4 | Sickle cell disease | yes |
TMK 1536 | DBS | Newborn | – | – | – | – | – | – | – | Sickle cell disease | yes |