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Blood, Vol. 92 No. 11 (December 1), 1998:
pp. 4422-4427
High Adenosine Deaminase Level Among Healthy Probands of Diamond
Blackfan Anemia (DBA) Cosegregates With the DBA Gene Region on
Chromosome 19q13
T.N. Willig,
J.L. Pérignon,
P. Gustavsson,
P. Gane,
N. Draptchinskaya,
H. Testard,
R. Girot,
M. Debré,
J.L. Stéphan,
C. Chenel,
J.P. Cartron,
N. Dahl, and
G. Tchernia on
behalf of the DBA Working Group of Société
d'Hématologie et d'Immunologie Pédiatrique (SHIP)
From the Département de Pédiatrie et Laboratoire
d'Hématologie, Hôpital Bicêtre, Assistance
Publique-Hôpitaux de Paris, Bicêtre, and Faculté de
Médicine Paris Sud, France; Laboratoire de Biochimie et
Unité d'Hématologie et d'Immunologie Pédiatrique,
Hôpital Necker; Unité Inserm U76, INTS; Laboratoire
d'Hématologie, Hôpital Tenon, Paris, France; Unit of
Clinical Genetics, Department of Genetics and Pathology, Uppsala
University Children's Hospital, Uppsala, Sweden; Hôpital
d'Enfants ASFA, La Réunion, France; Service de Pédiatrie,
Hôpital d'Enfants, CHU Hôpitaux de Saint Etienne, Saint
Etienne, France; Service de Pédiatrie, Centre Hospitalier
Territorial de Polynésie Française, Papeete, France.
Phenotypic characterization of Diamond Blackfan Anemia (DBA)
patients and their relatives was performed in 54 families. Complete blood count, fetal hemoglobin level, erythrocyte i antigen expression, and erythrocyte adenosine deaminase (eADA) activities were quantitated in patients and relatives. eADA was elevated in 28 of 34 transfusion-independent DBA patients, whereas persistence of
erythrocyte i antigen was noticed in only 10 of 20 DBA patients. High
eADA activities were also found in 14 of 149 healthy family members,
allowing us to identify an isolated high eADA phenotype in these
families. In contrast, increase in erythrocyte i antigen expression,
elevated fetal hemoglobin levels, and macrocytosis were much less
frequently noted in nonaffected members of the DBA families
studied. Importantly, isolated high eADA phenotype was found to be
significantly associated with genetic markers on chromosome 19 that
segregate with the DBA phenotype. Isolated high eADA phenotype thus
seems to reflect a silent phenotype of DBA in affected families. These
findings suggest that elevated eADA activity in unaffected individuals needs to be taken into account during genetic assessment of DBA families and could be used for accurate assessment of mode of inheritance.
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