Phenotype and genotype data of the Senegalese family
. | Sex/age (y) . | Total Hb (g/dL) . | MCV (fL) . | HbA (%) . | HbA2 (%) . | HbS (%) . | HbF (%) . | −158 Gγ . | α gene . | δ°β+ thal status . |
---|---|---|---|---|---|---|---|---|---|---|
Father | M/50 | 12.8 | 77 | 94.6 | 2.7 | — | 2.7 | C/C | αα/−α3.7α | +/− |
Mother | F/39 | 11.9 | 89.2 | 59.9 | — | 39 | 1.1 | C/T | αα/αα | −/− |
Child 1 | M/19 | 13.2 | 84.7 | 96.7 | 3 | — | 0.3 | C/C | αα/−α3.7α | −/− |
Child 2 | M/13 | 10.9 | 76 | 15.6 | — | 70 | 12.4 | C/T | αα/−α3.7α | +/− |
Child 3 | F/12 | 12.2 | 85 | 14 | — | 66 | 20.2 | C/T | αα/−α3.7α | +/− |
Child 4 | F/10 | 13.4 | 78 | 13.6 | — | 66 | 18.8 | C/T | αα/αα | +/− |
Child 5* | M/5 | 11.8 | 80 | 11.7 | — | 58 | 30.4 | C/T | αα/αα | +/− |
. | Sex/age (y) . | Total Hb (g/dL) . | MCV (fL) . | HbA (%) . | HbA2 (%) . | HbS (%) . | HbF (%) . | −158 Gγ . | α gene . | δ°β+ thal status . |
---|---|---|---|---|---|---|---|---|---|---|
Father | M/50 | 12.8 | 77 | 94.6 | 2.7 | — | 2.7 | C/C | αα/−α3.7α | +/− |
Mother | F/39 | 11.9 | 89.2 | 59.9 | — | 39 | 1.1 | C/T | αα/αα | −/− |
Child 1 | M/19 | 13.2 | 84.7 | 96.7 | 3 | — | 0.3 | C/C | αα/−α3.7α | −/− |
Child 2 | M/13 | 10.9 | 76 | 15.6 | — | 70 | 12.4 | C/T | αα/−α3.7α | +/− |
Child 3 | F/12 | 12.2 | 85 | 14 | — | 66 | 20.2 | C/T | αα/−α3.7α | +/− |
Child 4 | F/10 | 13.4 | 78 | 13.6 | — | 66 | 18.8 | C/T | αα/αα | +/− |
Child 5* | M/5 | 11.8 | 80 | 11.7 | — | 58 | 30.4 | C/T | αα/αα | +/− |
MCV indicates mean corpuscular volume; Hb, hemoglobin; M, male; F, female.
Proband.