Publication: Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation
Date
Authors
Güneş, Adalet Meral
Authors
Balta, Günay
Okur, Hamza
Ünal, Şule
Yaralı, Neşe
Ünal, Selma
Türker, Meral
Güler, Elif
Ertem, Mehmet
Albayrak, Meryem
Patıroğlu, Türkan
Advisor
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Pergamon-Elsevier
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Volume Title
Abstract
Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.
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Keywords
Familial hemophagocytic lymphohistiocytosis, FHL, Perforin gene, W374X mutation, Clinical implications, Genotype-phenotype, Founder effect, Turkish children, Oncology, Hematology
Citation
Balta, G. vd. (2010). "Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation". Leukemia Research, 34(8), 1012-1017.