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

Balta G., Okur H., Unal S., Yarali N., Gunes A. M., ÜNAL S., ...More

LEUKEMIA RESEARCH, vol.34, no.8, pp.1012-1017, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 8
  • Publication Date: 2010
  • Doi Number: 10.1016/j.leukres.2010.02.002
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1012-1017
  • Keywords: Familial hemophagocytic lymphohistiocytosis, FHL, Perforin gene, W374X mutation, Clinical implications, Genotype-phenotype, Founder effect, PERFORIN GENE, TURKISH CHILDREN
  • Gazi University Affiliated: Yes


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. (C) 2010 Elsevier Ltd. All rights reserved.