Clinical information for the 7 pregnant women who are carriers of hemophilia mutations
| Sample (gestation, wk) . | Affected gene . | Mutation* . | Severity of hemophilia . | Fetal hemophilia status . |
|---|---|---|---|---|
| H9 (36) | F9 | c.874delC (p.Gln292Lysfs) | Severe | Affected |
| H12† (a, 18; b, 34) | F8 | c.6278A>G (p.Asp2093Gly) | Mild | Affected |
| H15† (a, 34; b, 38) | F9 | c.1144T>C (p.Cys382Arg) | Severe | Affected |
| H17 (28) | F8 | c.826G>A (p.Val276Met) | Mild | Unaffected |
| H25† (a, 23; b, 32) | F9 | c.802T>A (p.Cys268Ser) | Moderate/severe | Affected |
| H26† (a, 11; b, 23) | F8 | c.1171C>T (p.Arg391Cys) | Severe | Unaffected |
| H30† (a, 32; b, 40) | F9 | c.1069G>A (p.Gly357Arg) | Moderate/severe | Unaffected |
| Sample (gestation, wk) . | Affected gene . | Mutation* . | Severity of hemophilia . | Fetal hemophilia status . |
|---|---|---|---|---|
| H9 (36) | F9 | c.874delC (p.Gln292Lysfs) | Severe | Affected |
| H12† (a, 18; b, 34) | F8 | c.6278A>G (p.Asp2093Gly) | Mild | Affected |
| H15† (a, 34; b, 38) | F9 | c.1144T>C (p.Cys382Arg) | Severe | Affected |
| H17 (28) | F8 | c.826G>A (p.Val276Met) | Mild | Unaffected |
| H25† (a, 23; b, 32) | F9 | c.802T>A (p.Cys268Ser) | Moderate/severe | Affected |
| H26† (a, 11; b, 23) | F8 | c.1171C>T (p.Arg391Cys) | Severe | Unaffected |
| H30† (a, 32; b, 40) | F9 | c.1069G>A (p.Gly357Arg) | Moderate/severe | Unaffected |
All fetuses were male.
Mutation nomenclature is based on the guidelines of the Human Genome Variation Society.19 The reference sequences for hemophilia A and B mutations are F8 mRNA variant 1 (Genbank accession NM_000132.3) and F9 mRNA (NM_000133.3), respectively. Nucleotide position +1 corresponds to the A nucleotide of the ATG translation initiation codon. Amino acid changes deduced from the DNA mutations are shown in the brackets. The reference sequences correspond to coagulation factor VIII isoform a precursor (NP_000123.1) and coagulation factor IX preproprotein (NP_000124.1), respectively. The translation initiator methionine is numbered as position +1.
Peripheral blood samples were taken on 2 occasions (a and b) from the same women during their pregnancies.