Congenital Erythroid Hypoplastic Anaemia: Autosomal Dominant Transmission

Abstract

In congenital erythroid hypoplasia (Diamond‐Blackfan syndrome) a genetic transmission has been described in only a few cases. We report a family where the evidence points to an autosomal dominant mode of inheritance, the first report of this kind where the father has had documented anaemia in infancy. The literature is reviewed.

Diamond Blackfan anemia: a model for the translational approach to understanding human disease

“…In these families, there were reports of affected same-and opposite-sex siblings [45,[91][92][93], including identical twins [94], and maternal or paternal halfsiblings [95][96][97][98]. There were also instances of parental transmission [96,[99][100][101]. The most striking evidence of autosomal dominant inheritance was illustrated in one case report of DBA in a male infant who had an affected mother and maternal grandfather [102].…”

Diamond Blackfan anemia: a model for the translational approach to understanding human disease

“…В этих семьях было показано заболевание пациентов того же или отличающегося пола [45,[91][92][93], включая идентичных близнецов [94] и детей, у которых были другие матери или отцы [95][96][97][98]. Также описаны случаи передачи по родительской линии [96,[99][100][101]. Наиболее показательным случаем аутосомно-доминантного носительства является случай, когда пациент с АДБ мужского пола имел страдающую АДБ мать и дедушку по материнской линии [102].…”