Family ID | Relationship | Gender | Gene | Age (years)* | Initial haematopoietic symptoms | Dysmorphology and other clinical features | Treatment† | Hb (gm/dL) ‡ | MCV (fL) ‡ | eADA (IU/g Hb) ‡ , § | HbF (%)# | |
NCI-138 | II-2 | Proband | Female | RPL35 | 41.7 | Anaemia at age 2 months | No dysmorphology reported | Spontaneous remission age 18 years | 12.7 | 96.6 | 1.37 | N/A |
NCI-138 | III-1 | Offspring | Female | RPL35 | 10.5 | Anaemia at age 1 month | No dysmorphology reported, developed ulcerative colitis at age 15 years | Steroid responsive. Blood counts dropped on treatment for ulcerative colitis, now transfusion dependent | 11.9 | 99 | 1.44 | N/A |
NCI-172 | II-1 | Proband | Male | RPL18 | 40 | Anaemia at age 8 months | No dysmorphology reported, neutropaenia since infancy | Steroid responsive | 12.8 | 98.6 | N/A | N/A |
NCI-172 | III-1 | Offspring | Male | RPL18 | 2 | Mild anaemia at birth that resolved, anaemia at age 1 year | No dysmorphology reported, intermittent neutropaenia since birth | Steroid responsive | 8.6 | 95.4 | 1.49 | 2.5 |
*Age at study entry.
†Treatment last reported.
‡Results prior to red blood cell transfusion, when applicable.
§Normal eADA levels are <0.096 IU/g Hb.19
eADA, erythrocyte adenosine deaminase level; DBA, Diamond-Blackfan anaemia; Hb, haemoglobin; HbF, fetal haemoglobin, MCV, mean corpuscular volume; N/A, not available.