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Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation

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Güneş, Adalet Meral

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Balta, Günay
Okur, Hamza
Ünal, Şule
Yaralı, Neşe
Ünal, Selma
Türker, Meral
Güler, Elif
Ertem, Mehmet
Albayrak, Meryem
Patıroğlu, Türkan

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Pergamon-Elsevier

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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

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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.

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