Patients with afibrinogenemia investigated in this study
| Patient . | Origin (consanguinity) . | Age at Diagnosis . | Mutation . | Haplotypes . |
|---|---|---|---|---|
| A2 | France (NC) | Birth | IVS4 + 1 G > T | 1-5-2 |
| IVS4 + 1 G > T | 2-5-2 | |||
| A4 | Puerto Rico (C) | 7 months | Not found | 1-1-3 |
| 1-1-3 | ||||
| A5 | France (?) | Birth | IVS4 + 1 G > T | 1-3-2 |
| IVS4 + 1 G > T | 1-4-1 | |||
| A6 | France (NC) | 1 year | IVS4 + 1 G > T | 1-5-2 |
| IVS4 + 1 G > T | 2-4-2 | |||
| A7 | France (NC) | 10 months | IVS4 + 1 G > T | 2-5-2 |
| G316X (exon 5) | 2-6-2 | |||
| A8 | Belgium (NC) | 5 years | 34insC (exon 1) | 2-5-2 |
| 3121delAA (exon 4) | 2-2-2 | |||
| A9 | Belgium (C) | 2 years | IVS4 + 1 G > T | 1-4-1 |
| IVS4 + 1 G > T | 1-4-1 | |||
| A10 | France (NC) | 17 years* | IVS4 + 1 G > T | 1-5-1 |
| IVS1 + 3 A > G | 3-3-1 | |||
| A12 | France (NC) | 5 years | 3121delAA (exon 4) | 2-2-? |
| W334X (exon 5) | 2-5-? | |||
| B1 | France (?) | Birth | IVS4 + 1 G > T | 2-3-1 |
| IVS4 + 1 G > T | 2-3-1 | |||
| B2 | Pakistan (C) | 17 months | Not found | 1-3-1 |
| 1-3-1 | ||||
| B3 | United States (?) | Birth | IVS4 + 1 G > T | 2-4-2 |
| 4329delC (exon 5) | 2-4-1 | |||
| B4 | United States (?) | Birth | IVS4 + 1 G > T | 2-5-2 |
| 11-kb deletion | 3-del-1 |
| Patient . | Origin (consanguinity) . | Age at Diagnosis . | Mutation . | Haplotypes . |
|---|---|---|---|---|
| A2 | France (NC) | Birth | IVS4 + 1 G > T | 1-5-2 |
| IVS4 + 1 G > T | 2-5-2 | |||
| A4 | Puerto Rico (C) | 7 months | Not found | 1-1-3 |
| 1-1-3 | ||||
| A5 | France (?) | Birth | IVS4 + 1 G > T | 1-3-2 |
| IVS4 + 1 G > T | 1-4-1 | |||
| A6 | France (NC) | 1 year | IVS4 + 1 G > T | 1-5-2 |
| IVS4 + 1 G > T | 2-4-2 | |||
| A7 | France (NC) | 10 months | IVS4 + 1 G > T | 2-5-2 |
| G316X (exon 5) | 2-6-2 | |||
| A8 | Belgium (NC) | 5 years | 34insC (exon 1) | 2-5-2 |
| 3121delAA (exon 4) | 2-2-2 | |||
| A9 | Belgium (C) | 2 years | IVS4 + 1 G > T | 1-4-1 |
| IVS4 + 1 G > T | 1-4-1 | |||
| A10 | France (NC) | 17 years* | IVS4 + 1 G > T | 1-5-1 |
| IVS1 + 3 A > G | 3-3-1 | |||
| A12 | France (NC) | 5 years | 3121delAA (exon 4) | 2-2-? |
| W334X (exon 5) | 2-5-? | |||
| B1 | France (?) | Birth | IVS4 + 1 G > T | 2-3-1 |
| IVS4 + 1 G > T | 2-3-1 | |||
| B2 | Pakistan (C) | 17 months | Not found | 1-3-1 |
| 1-3-1 | ||||
| B3 | United States (?) | Birth | IVS4 + 1 G > T | 2-4-2 |
| 4329delC (exon 5) | 2-4-1 | |||
| B4 | United States (?) | Birth | IVS4 + 1 G > T | 2-5-2 |
| 11-kb deletion | 3-del-1 |
This female patient was considered to have severe hemophilia from an early age; the formal diagnosis of afibrinogenemia was not made until she was 17 years old. Haplotypes were defined with the 3 closely linked markers, D4S3021, FGAi3, and D4S2999. Because analysis of the parental chromosomes was not possible, allele phases were inferred to determine the minimum number of different chromosomes in the patient sample. C, consanguineous; NC, not consanguineous; ?, unknown status.