Table 1

Clinical characteristics of DBA families found to have pathogenic variants in previously undescribed ribosomal genes. Data reported reflect clinical features at study entry

Family IDRelationshipGenderGeneAge (years)*Initial haematopoietic symptomsDysmorphology and other clinical featuresTreatment Hb (gm/dL) MCV (fL) eADA (IU/g Hb) , § HbF (%)#
NCI-138II-2ProbandFemale RPL35 41.7Anaemia at age 2 monthsNo dysmorphology reportedSpontaneous remission age 18 years12.796.61.37N/A
NCI-138III-1OffspringFemale RPL35 10.5Anaemia at age 1 monthNo dysmorphology reported,
developed ulcerative colitis at age 15 years
Steroid responsive. Blood counts dropped on treatment for ulcerative colitis, now transfusion dependent11.9991.44N/A
NCI-172II-1ProbandMale RPL18 40Anaemia at age 8 monthsNo dysmorphology reported,
neutropaenia since infancy
Steroid responsive12.898.6N/AN/A
NCI-172III-1OffspringMale RPL18 2Mild anaemia at birth that resolved, anaemia at age 1 yearNo dysmorphology reported,
intermittent neutropaenia since birth
Steroid responsive8.695.41.492.5
  • *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.