Congenital dyserythropoiesis characterized by marked macrocytosis, vitamin B12- and folate-independent megaloblastic change and absence of the defining features of congenital dyserythropoietic anaemia types I or III.

Autor: Wickramasinghe SN; Department of Haematology, Imperial College School of Medicine at St Mary's, London., Andrews VE, O'Hea AM
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 1996 Oct; Vol. 95 (1), pp. 73-6.
DOI: 10.1046/j.1365-2141.1996.d01-1885.x
Abstrakt: Four patients with congenital dyserythropoiesis characterized by marked macrocytosis, little or no anaemia, and vitamin B12- and folate-independent megaloblastic erythropoiesis are reported. Their erythroblasts also showed various dysplastic changes but not those diagnostic for congenital dyserythropoietic anaemia (CDA) types I or III. The haematological features of the four patients, who included two siblings, resemble those of a previously reported patient and together these patients form a recognizable subgroup within those cases of CDA not belonging to CDA types I-III. In two of the cases studied, and possibly a third, the inheritance was as an autosomal recessive character.
Databáze: MEDLINE