Table 1.
Author | N | Sex | Country of origin | Year of birth | Hb F %/age at determination | Transfusion dependency | Transfusions frequency | Sx/timeline | Need of Transfusion post-Sx | Clinical follow-up | Bone marrow aspirate |
---|---|---|---|---|---|---|---|---|---|---|---|
Ohba et al. 1977 | 1 | F | Japan | 1971 | 6.8%/3 years | Yes | Monthly, start 18 months | Yes, at 4 years | No | NA | Erythroid hyperplasia |
Labotka et al. 1990 | 2 | F | Italy | 1986 | NA | Yes | Monthly, start 6 months | Yes, at 3 years | No | NA | Hypercellular erythroid hyperplasia |
Keeling et al. 1991 | 3 | M | America | 1986 |
35%/2 years 22%/4 years |
No | Unknown | Yes, at 4 years | No | NA | NA |
Harthoorn et al. 1994 | 4 | M | The Netherlands | 1989 |
31%/16 months 16%/3 years 9.8%/5 years |
Yes | Every 8 weeks, start 2 years | Yes, at 6 years | No | Papillary thyroid carcinoma, Gilbert’s syndrome; hepatic failure leading to liver transplant | Active erythropoiesis |
Perera et al. 2015 Family (2 members) |
5 | F | Sri Lanka | 1969 | NA | Yes | NA | Yes, early age | Yes | NA | NA |
6 | M | Sri Lanka | 1996 | NA | Yes | NA | Yes, early age | Yes | NA | NA | |
Njue et al. Family (3 members) | 7 | F | Switzerland | 1979 | 1.8%/2 years | Yes | Approx. monthly, start at 2 months | Yes, at 3 years | Yes, RBC exchange every 6 weeks | Moyamoya disease | Erythroid hyperplasia |
8 | F | Switzerland | 2003 | 1.4%/4 years | Yes | Monthly, start 7 months | Yes, at 7 years | Every 6–10 months | None relevant | Not performed | |
9 | M | Switzerland | 2009 | N/A | Yes | Monthly, start 4 months | Yes, at 6 years | Every 3 months | None relevant | not performed |