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Congenital dyserythropoiesis with intererythroblastic chromatin bridges and ultrastructurally‐normal erythroblast heterochromatin: a new disorder
Author(s) -
Spearing Ruth L.
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.01058.x
Subject(s) - erythroblast , chromatin , heterochromatin , basophilic , biology , mitosis , microbiology and biotechnology , genetics , pathology , dna , medicine , stem cell , haematopoiesis
Two non‐anaemic subjects, a father and daughter, with a new form of congenital dyserythropoiesis are reported. The features of their disorder are: (1) an abnormal blood film with basophilic stippling of red cells and oval macrocytes, (2) various dysplastic changes in the erythroblasts, including internuclear chromatin bridges, (3) ultrastructurally‐normal erythroblast heterochromatin, (4) normal serum thymidine kinase activity, and (5) a probable autosomal dominant inheritance. The last three features distinguish this disorder from CDA type I.