Summary of results
| Individual . | MetHb (%) . | MetHb reductase (IU/g Hb) . | Mutation . | Amino acid change . |
|---|---|---|---|---|
| Healthy controls (n = 0) | < 1.0 | 1.7-3.5 | ||
| Family V | ||||
| Father | not tested | 1.5 | G757A heterozygote | V252M |
| Mother | not tested | 1.3 | G757A heterozygote | V252M |
| Child 1 | not tested | 0.1 | G757A homozygote | V252M |
| Child 2 | not tested | 3.0 | G757G normal | |
| Child 3 | not tested | 0 | G757A homozygote | V252M |
| Family A | ||||
| Father | 0.4 | 0.7 | G757A heterozygote | V252M |
| Mother | 0.4 | 1.0 | G757A heterozygote | V252M |
| Child 1 | 10.7 | 0.1 | G757A homozygote | V252M |
| Child 2 | 10.0 | 0.1 | G757A homozygote | V252M |
| Child 3 | 0.5 | 1.5 | G757A heterozygote | V252M |
| Family T | ||||
| Mr T | 0.3 | 0.2 | G757A homozygote | V252M |
| Family W | ||||
| II.1 | 0.4 | 1.2 | C434T heterozygote | P144L |
| II.3 | not tested | 0 | not tested | |
| II.4 | not tested | 1.2 | not tested | |
| III.2 | 0.7 | 0.7 | C434T heterozygote | P144L |
| III.3 | not tested | 0.5 | not tested | |
| III.5 | 0.4 | 3.0 | C434C normal | |
| IV.1 | not tested | 1.7 | not tested | |
| IV.2 | not tested | 1.9 | not tested | |
| IV.3 | 0.3 | 1.1 | C434T heterozygote | P144L |
| IV.4 | 0.4 | 2.0 | C434C normal | |
| IV.5 | not tested | 1.0 | not tested | |
| Family Am | ||||
| Father | 0.7 | 2.3 | G149A heterozygote | R49Q |
| Mother | 0.1 | 1.6 | C194T heterozygote | P64L |
| Child 1 | 6.1 | 0.4 | G149A heterozygote | R49Q |
| C194T heterozygote | P64L | |||
| Child 2 | 2.0 | 0.8 | G149A heterozygote | R49Q |
| C194T heterozygote | P64L | |||
| Child 3 | 0.7 | 1.3 | G149A heterozygote | R49Q |
| Child 4 | not tested | 2.6 | normal | |
| Family L | ||||
| Father | 2.8 | 1.1 | T716G heterozygote | L238R |
| Mother | 1.7 | 1.1 | intron 4 − 1g → a heterozygote | Splice defect |
| Child | 9.1 | 0.2 | T716G heterozygote | L238R |
| Intron 4 − 1g → a heterozygote | Splice defect | |||
| Family O | ||||
| Father | 1.0 | 1.5 | G535A heterozygote | A178T |
| Mother | 2.0 | 1.1 | G535A heterozygote | A178T |
| Child | 31 | 0.1 | G535A homozygote | A178T |
| Individual . | MetHb (%) . | MetHb reductase (IU/g Hb) . | Mutation . | Amino acid change . |
|---|---|---|---|---|
| Healthy controls (n = 0) | < 1.0 | 1.7-3.5 | ||
| Family V | ||||
| Father | not tested | 1.5 | G757A heterozygote | V252M |
| Mother | not tested | 1.3 | G757A heterozygote | V252M |
| Child 1 | not tested | 0.1 | G757A homozygote | V252M |
| Child 2 | not tested | 3.0 | G757G normal | |
| Child 3 | not tested | 0 | G757A homozygote | V252M |
| Family A | ||||
| Father | 0.4 | 0.7 | G757A heterozygote | V252M |
| Mother | 0.4 | 1.0 | G757A heterozygote | V252M |
| Child 1 | 10.7 | 0.1 | G757A homozygote | V252M |
| Child 2 | 10.0 | 0.1 | G757A homozygote | V252M |
| Child 3 | 0.5 | 1.5 | G757A heterozygote | V252M |
| Family T | ||||
| Mr T | 0.3 | 0.2 | G757A homozygote | V252M |
| Family W | ||||
| II.1 | 0.4 | 1.2 | C434T heterozygote | P144L |
| II.3 | not tested | 0 | not tested | |
| II.4 | not tested | 1.2 | not tested | |
| III.2 | 0.7 | 0.7 | C434T heterozygote | P144L |
| III.3 | not tested | 0.5 | not tested | |
| III.5 | 0.4 | 3.0 | C434C normal | |
| IV.1 | not tested | 1.7 | not tested | |
| IV.2 | not tested | 1.9 | not tested | |
| IV.3 | 0.3 | 1.1 | C434T heterozygote | P144L |
| IV.4 | 0.4 | 2.0 | C434C normal | |
| IV.5 | not tested | 1.0 | not tested | |
| Family Am | ||||
| Father | 0.7 | 2.3 | G149A heterozygote | R49Q |
| Mother | 0.1 | 1.6 | C194T heterozygote | P64L |
| Child 1 | 6.1 | 0.4 | G149A heterozygote | R49Q |
| C194T heterozygote | P64L | |||
| Child 2 | 2.0 | 0.8 | G149A heterozygote | R49Q |
| C194T heterozygote | P64L | |||
| Child 3 | 0.7 | 1.3 | G149A heterozygote | R49Q |
| Child 4 | not tested | 2.6 | normal | |
| Family L | ||||
| Father | 2.8 | 1.1 | T716G heterozygote | L238R |
| Mother | 1.7 | 1.1 | intron 4 − 1g → a heterozygote | Splice defect |
| Child | 9.1 | 0.2 | T716G heterozygote | L238R |
| Intron 4 − 1g → a heterozygote | Splice defect | |||
| Family O | ||||
| Father | 1.0 | 1.5 | G535A heterozygote | A178T |
| Mother | 2.0 | 1.1 | G535A heterozygote | A178T |
| Child | 31 | 0.1 | G535A homozygote | A178T |
Single-letter amino acid codes used.