No. case |
Age, yrs | Sex | G6PD activity, U/g Hb |
G6PD activity, % of normal |
G6PD genotype | Occurrences of hemolysis | Onset age of hemolysis occurred | Trigger(s) | Clinical manifestation | Hospitalization |
Note |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 56 | Male | 0.86 | 5.5 | c.1376G>T hemizygote | 1 | School age | Sulfonamides, analgesic-antipyretic | Blood in the urine | Yes | - |
2 | 23 | Male | 1.09 | 7.0 | c.1376G>T hemizygote | 1 | School age | Fava beans | Jaundice | Yes | - |
3 | 33 | Male | 1.51 | 9.7 | c.1388G>A hemizygote | 1 | School age | Fava beans | - |
Yes | - |
4 | 29 | Male | 2.29 | 14.7 | c.95A>G hemizygote | 1 | Neonatal period | - | Neonatal jaundice | No |
- |
5 | 37 | Female | 4.26 | 27.5 | c.1376G>T heterozygote | 1 | School age | Fava beans | - |
Yes | - |
6 | 56 | Female | 9.02 | 58.2 | c.871G>A heterozygote | 1 | Preschool age | Sulfonamides | - |
No | Her father has G6PD deficiency |
7 | 37 | Female | 10.09 | 65.0 | c.1376G>T heterozygote | 1 | Neonatal period | - | Neonatal jaundice | No |
- |
8 | 41 | Female | 6.22 | 40.1 | c.1388G>A heterozygote | 0 | - | - | - | - | Her daughter: neonatal jaundice |
9 | 41 | Female | 8.43 | 54.3 | c.95A>G heterozygote | 0 | - | - | - | - | Her nephew: paleness after taking an analgesic-antipyretic |
10 | 37 | Female | 10.18 | 65.6 | c.1388G>A heterozygote | 0 | - | - | - | - | Her son: neonatal jaundice |
*Patients 1–7 had hemolysis, whereas patients 8–10 showed no symptoms, but their relatives had hemolysis.
†The G6PD activity (% of normal) is calculated as a percentage by dividing the G6PD (U/g Hb) result by the NMM2 value (15.51 U/g Hb).
‡Hospitalization was due to sudden acute hemolysis.
§Patients 3, 5, and 6 forgot their symptoms.
||Patients 4 and 7 underwent no additional hospitalization and had no symptoms of hemolysis after the last follow-up.
Abbreviations: G6PD, glucose-6-phosphate dehydrogenase; NMM2, normal male median in group 2.
© Ann Lab Med