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Dyskeratosis congenita
Author(s) -
Röth Alexander,
Baerlocher Gabriela M.
Publication year - 2008
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 - 10.1111/j.1365-2141.2008.07052.x
Subject(s) - dyskeratosis congenita , pancytopenia , medicine , dermatology , hyperpigmentation , bone marrow failure , pathology , telomere , bone marrow , genetics , biology , dna , stem cell , haematopoiesis
People with dyskeratosis congenita have an increased risk of developing several lifethreatening conditions. They are especially vulnerable to disorders that impair bone marrow function. These disorders disrupt the ability of the bone marrow to produce new blood cells. Affected individuals may develop aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells. They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form of blood cancer called leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.