[X-linked dyskeratosis congenita with aplastic anemia--genetic and hematologic studies].
Two brothers in a Chinese family were affected with dyskeratosis congenita (DC). The proband's stepbrother died of pancytopenia and rectal adenocarcinoma. The proband with progressive pancytopenia was studied in genetics and hematology. Family investigations suggest that the disorder was inherited as an X-linked recessive transmission. No specific chromosome aberrations were detected in both peripheral blood and bone marrow cells. Bone marrow biopsy revealed markedly hypocellular marrow without prominent reticulin fibers. Hematopoiesis was assessed by assay of granulomonocytic (CFU-GM) colonies and clusters in vitro. Numbers of CFU-GM were profoundly reduced in marrow cultures from our patient. Although a defect in the stromal microenvironment and lymphocyte mediated suppression could not be excluded. It is possible that the defect is intrinsic to the hematopoietic stem cells. The familial disease described by this paper favors that the dyskeratosis congenita is X-linked with constitutional aplastic anemia. It is believed that the pancytopenia with hypocellular marrow in DC is an inherited rather than an acquired condition.
Lin
T C
TC
Lin
C K
CK
Lee
J Y
JY
Chau
W K
WK
Wang
S Y
SY
D000293:Adolescent; D000741:Anemia, Aplastic / Q000097:blood / Q000235:genetics*; D008040:Genetic Linkage; D006410:Hematopoiesis; D006801:Humans; D007633:Keratins / Q000378:metabolism*; D008297:Male; D012871:Skin Diseases / Q000097:blood / Q000235:genetics*; D014960:X Chromosome
D007633:Keratins