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Congenital hypoplastic (Diamond‐Blackfan) anemia in seven members of one kindred

Congenital hypoplastic (Diamond‐Blackfan) anemia in seven members of one kindred Congenital hypoplastic (Diamond‐Blackfan) anemia is a rare macrocytic anemia, generally presenting during infancy or childhood. The condition usually occurs sporadically or in a pattern consistent with autosomal recessive inheritance, although autosomal dominant transmission has been proposed in some kindreds. We report the largest known kindred of congenital hypoplastic anemia, with at least 7 affected individuals over 3 generations, and propose that studies of this kindred may be useful for identifying the mechanism by which their genetic abnormality results in congenital hypoplastic anemia. Erythropoietic investigations on relatives show no inhibitors of erythropoiesis in serum, T‐lymphocytes, or macrophages. Their erythroid progenitor cells (CFU‐E and BFU‐E) were generally quantitatively normal, and were capable of rapid proliferation, as judged by cellcycle shortening. However, their erythroid progenitors displayed a relative insensitivity to recombinant erythropoietin, and produced relatively few normoblasts per erythroid progenitor cell. We propose that these and subsequent studies may be helpful in selecting candidate genes responsible for the molecular defect in this kindred. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Congenital hypoplastic (Diamond‐Blackfan) anemia in seven members of one kindred

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References (29)

Publisher
Wiley
Copyright
Copyright © 1990 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320350221
pmid
2309764
Publisher site
See Article on Publisher Site

Abstract

Congenital hypoplastic (Diamond‐Blackfan) anemia is a rare macrocytic anemia, generally presenting during infancy or childhood. The condition usually occurs sporadically or in a pattern consistent with autosomal recessive inheritance, although autosomal dominant transmission has been proposed in some kindreds. We report the largest known kindred of congenital hypoplastic anemia, with at least 7 affected individuals over 3 generations, and propose that studies of this kindred may be useful for identifying the mechanism by which their genetic abnormality results in congenital hypoplastic anemia. Erythropoietic investigations on relatives show no inhibitors of erythropoiesis in serum, T‐lymphocytes, or macrophages. Their erythroid progenitor cells (CFU‐E and BFU‐E) were generally quantitatively normal, and were capable of rapid proliferation, as judged by cellcycle shortening. However, their erythroid progenitors displayed a relative insensitivity to recombinant erythropoietin, and produced relatively few normoblasts per erythroid progenitor cell. We propose that these and subsequent studies may be helpful in selecting candidate genes responsible for the molecular defect in this kindred.

Journal

American Journal of Medical Genetics Part AWiley

Published: Feb 1, 1990

Keywords: ; ; ; ; ;

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