Willig T N, Pérignon J L, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan J L, Chenel C, Cartron J P, Dahl N, Tchernia G
Département de Pédiatrie et Laboratoire d'Hématologie, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Bicêtre, France.
Blood. 1998 Dec 1;92(11):4422-7.
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.
我们对54个家庭的钻石黑范贫血（DBA）患者及其亲属进行了表型特征分析。对患者及其亲属进行了全血细胞计数、胎儿血红蛋白水平、红细胞i抗原表达以及红细胞腺苷脱氨酶（eADA）活性的定量检测。34例非输血依赖型DBA患者中有28例eADA升高，而20例DBA患者中只有10例红细胞i抗原持续存在。在149名健康家庭成员中，有14人也发现了高eADA活性，这使我们能够在这些家庭中识别出一种孤立的高eADA表型。相比之下，在所研究的DBA家庭的未患病成员中，红细胞i抗原表达增加、胎儿血红蛋白水平升高和大红细胞症的情况则较少见。重要的是，发现孤立的高eADA表型与19号染色体上与DBA表型共分离的遗传标记显著相关。因此，孤立的高eADA表型似乎反映了患病家庭中DBA的一种沉默表型。这些发现表明，在对DBA家庭进行遗传评估时，需要考虑未患病个体中eADA活性升高的情况，并且可用于准确评估遗传方式。
