Characteristics of 29 FA patients in Japan
| Patient No. . | Sex . | Age at Onset of HA (yr) . | Hematological Data at Diagnosis . | Congenital Malformations . | Growth . | Treatment and Clinical Course . | Status (Age)* . | Genotype . | Birthplace (Prefecture) . | Consanguinity . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC (×109/L) . | Hb (g/dL) . | Plt (×109/L) . | SP . | T/R . | S . | C . | KU . | G . | MC . | MP . | E . | Gl . | MDS/AML . | BMT . | ||||||||
| P1 | F | 4 | 3.1 | 10.1 | 25 | N | MDS | + | living (7) | IVS4/IVS4 | Nagasaki | − | ||||||||||
| P2 | M | 9 | 3 | 8.6 | 86 | + | + | R | + | living (15) | IVS4/IVS4 | Niigata | − | |||||||||
| P3 | M | 4 | 3 | 8.3 | 4 | + | + | + | + | R | + | died (6) | IVS4/IVS4 | Nagasaki | − | |||||||
| P4 | M | 4 | 5 | 6.7 | 33 | + | + | + | R | + | living (11) | IVS4/IVS4 | Tokyo | − | ||||||||
| P5 | M | 15 | 1.9 | 5.4 | 47 | + | + | N | MDS | + | living (11) | IVS4/IVS4 | Kyoto | − | ||||||||
| P6 | M | 10 | 1.5 | 7.4 | 22 | + | N | + | living (21) | IVS4/IVS4 | Kanagawa | − | ||||||||||
| P7 | M | 3 | + | + | + | + | N | + | living (23) | IVS4/IVS4 | Yamaguchi | − | ||||||||||
| P8 | M | 0.7 | 12.6 | 8.8 | + | + | R | + | living (17) | IVS4/IVS4 | Mie | − | ||||||||||
| P9 | F | 8 | + | R | AML (23 y) | + | living (26) | — | − | |||||||||||||
| P10 | F | 4 | 3.4 | 5.7 | 16 | + | + | R | living (8) | − | ||||||||||||
| P11-1† | F | 7 | 4.5 | 9.3 | 45 | R | living (16) | Kagoshima | − | |||||||||||||
| P11-2† | M | 7 | 2.3 | 10.8 | 23 | R | MDS | living (21) | Kagoshima | − | ||||||||||||
| P12 | M | 2 | 2.2 | 6.9 | 15 | + | + | N | MDS? | + | died (9) | — | ? | |||||||||
| P13 | F | 9 | 2.6 | 6.4 | 45 | + | N | living (11) | Hiroshima | + | ||||||||||||
| P14 | M | 3 | 3.5 | 4.2 | 41 | + | + | + | R | AML (10 y) | died (?) | Osaka | − | |||||||||
| P15 | F | 7 | 3 | 10.3 | 57 | + | + | R | AML (23 y) | + | died (24) | Hiroshima | − | |||||||||
| P16-1† | F | 11 | 2.1 | 4.8 | 18 | + | + | N | living (14) | Ibaraki | − | |||||||||||
| P16-2† | F | 4 | 3.7 | 5.7 | 29 | + | + | + | N | living (9) | Ibaraki | − | ||||||||||
| P17 | F | 5 | + | R | living (6) | — | + | |||||||||||||||
| P18 | M | 3 | 5.5 | 10.6 | 61 | + | N | living (18) | Shimane | − | ||||||||||||
| P19-1† | 6 | 3.4 | 8 | 27 | + | + | + | N | MDS | living (14) | — | − | ||||||||||
| P19-2† | F | 6 | 4.4 | 11.3 | 79 | + | R | living (7) | — | − | ||||||||||||
| P19-3† | F | 9.1 | 11.9 | 455 | + | + | R | living (2) | — | − | ||||||||||||
| P20 | F | 4 | 6 | 9.3 | 26 | + | + | + | R | + | living (20) | Kanagawa | − | |||||||||
| P21 | F | 7 | 2.6 | 4.8 | 19 | + | + | N | living (9) | IVS4/unknown | Gunma | − | ||||||||||
| P22 | F | 6 | 4.3 | 9.4 | 49 | + | R | living (13) | Hiroshima | − | ||||||||||||
| P23-1† | F | 0.8 | 2.7 | 4.8 | 14 | + | + | N | + | died (2) | — | − | ||||||||||
| P23-2† | F | 4 | 6.2 | 13.8 | 57 | + | + | + | R | living (15) | — | − | ||||||||||
| P24 | M | 2 | 2.9 | 11 | 60 | N | living (8) | Shimane | − | |||||||||||||
| Patient No. . | Sex . | Age at Onset of HA (yr) . | Hematological Data at Diagnosis . | Congenital Malformations . | Growth . | Treatment and Clinical Course . | Status (Age)* . | Genotype . | Birthplace (Prefecture) . | Consanguinity . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC (×109/L) . | Hb (g/dL) . | Plt (×109/L) . | SP . | T/R . | S . | C . | KU . | G . | MC . | MP . | E . | Gl . | MDS/AML . | BMT . | ||||||||
| P1 | F | 4 | 3.1 | 10.1 | 25 | N | MDS | + | living (7) | IVS4/IVS4 | Nagasaki | − | ||||||||||
| P2 | M | 9 | 3 | 8.6 | 86 | + | + | R | + | living (15) | IVS4/IVS4 | Niigata | − | |||||||||
| P3 | M | 4 | 3 | 8.3 | 4 | + | + | + | + | R | + | died (6) | IVS4/IVS4 | Nagasaki | − | |||||||
| P4 | M | 4 | 5 | 6.7 | 33 | + | + | + | R | + | living (11) | IVS4/IVS4 | Tokyo | − | ||||||||
| P5 | M | 15 | 1.9 | 5.4 | 47 | + | + | N | MDS | + | living (11) | IVS4/IVS4 | Kyoto | − | ||||||||
| P6 | M | 10 | 1.5 | 7.4 | 22 | + | N | + | living (21) | IVS4/IVS4 | Kanagawa | − | ||||||||||
| P7 | M | 3 | + | + | + | + | N | + | living (23) | IVS4/IVS4 | Yamaguchi | − | ||||||||||
| P8 | M | 0.7 | 12.6 | 8.8 | + | + | R | + | living (17) | IVS4/IVS4 | Mie | − | ||||||||||
| P9 | F | 8 | + | R | AML (23 y) | + | living (26) | — | − | |||||||||||||
| P10 | F | 4 | 3.4 | 5.7 | 16 | + | + | R | living (8) | − | ||||||||||||
| P11-1† | F | 7 | 4.5 | 9.3 | 45 | R | living (16) | Kagoshima | − | |||||||||||||
| P11-2† | M | 7 | 2.3 | 10.8 | 23 | R | MDS | living (21) | Kagoshima | − | ||||||||||||
| P12 | M | 2 | 2.2 | 6.9 | 15 | + | + | N | MDS? | + | died (9) | — | ? | |||||||||
| P13 | F | 9 | 2.6 | 6.4 | 45 | + | N | living (11) | Hiroshima | + | ||||||||||||
| P14 | M | 3 | 3.5 | 4.2 | 41 | + | + | + | R | AML (10 y) | died (?) | Osaka | − | |||||||||
| P15 | F | 7 | 3 | 10.3 | 57 | + | + | R | AML (23 y) | + | died (24) | Hiroshima | − | |||||||||
| P16-1† | F | 11 | 2.1 | 4.8 | 18 | + | + | N | living (14) | Ibaraki | − | |||||||||||
| P16-2† | F | 4 | 3.7 | 5.7 | 29 | + | + | + | N | living (9) | Ibaraki | − | ||||||||||
| P17 | F | 5 | + | R | living (6) | — | + | |||||||||||||||
| P18 | M | 3 | 5.5 | 10.6 | 61 | + | N | living (18) | Shimane | − | ||||||||||||
| P19-1† | 6 | 3.4 | 8 | 27 | + | + | + | N | MDS | living (14) | — | − | ||||||||||
| P19-2† | F | 6 | 4.4 | 11.3 | 79 | + | R | living (7) | — | − | ||||||||||||
| P19-3† | F | 9.1 | 11.9 | 455 | + | + | R | living (2) | — | − | ||||||||||||
| P20 | F | 4 | 6 | 9.3 | 26 | + | + | + | R | + | living (20) | Kanagawa | − | |||||||||
| P21 | F | 7 | 2.6 | 4.8 | 19 | + | + | N | living (9) | IVS4/unknown | Gunma | − | ||||||||||
| P22 | F | 6 | 4.3 | 9.4 | 49 | + | R | living (13) | Hiroshima | − | ||||||||||||
| P23-1† | F | 0.8 | 2.7 | 4.8 | 14 | + | + | N | + | died (2) | — | − | ||||||||||
| P23-2† | F | 4 | 6.2 | 13.8 | 57 | + | + | + | R | living (15) | — | − | ||||||||||
| P24 | M | 2 | 2.9 | 11 | 60 | N | living (8) | Shimane | − | |||||||||||||
HA indicates hematological abnormality; N, normal; R, retarded; SP, skin pigmentation; T/R, thumb/radius; S, skeletal; C, cardiac; KU, kidney and urinary tract; G, genitalia; MC, microcephaly; MP, microphthalmia; E, ear; GI, gastrointestinal; BMT, bone marrow transplantation; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; IVS4, IVS4 + 4 A to T mutation.
Age is either age at death or age when reported as living.
P11-1 and P11-2 are siblings; P16-1, P16-2, and P16-3 are siblings; P19-1, P19-2, and P19-3 are siblings; and P23-1 and P23-2 are siblings.