title: [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
abstract: OBJECTIVE
  To study the clinical features and ABCG5/ABCG8 gene mutations of three pedigrees of phytosterolemia presented with macrothrombocytopenia and hemolysis.
  
  
  METHODS
  Erythrocyte and platelet morphology were examined under light microscope. Plasma sterol levels were measured by high pressure/performance liquid chromatography method. All of ABCG5 and ABCG8 exons and intron-exon boundaries were directly sequenced to identify mutations, the corresponding gene mutation sites of three families members and healthy individuals were detected.
  
  
  RESULTS
  All the patients presented macrothrombocytopenia, hemolysis, splenomegaly and xanthomas. The blood smears showed large platelets, some as large as erythrocytes, and abnormal erythrocyte shapes, such as stomatocytes. Plasma concentrations of phytosterols, especially sitosterol were markedly elevated (30 fold) in the affected patients. Four mutations were identified in these three pedigrees, ABCG5 C20896T (R446X) and A20883G, ABCG8 del43683-43724 and del1938C-1939G/ins1938T. The latter three were novel mutations reported for the first time.
  
  
  CONCLUSIONS
  Phytosterolemia associated with macrothrombocytopenia and hemolysis is a new subtype of this disease. Plasma phytosterols and related gene analysis should be performed when ever an unexplained macrothrombocytopenia, especially combined with haemolysis or/and stomatocytosis.
authors: Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors: Gai-feng
authors: GF
authors: Wang
authors: Zhao-yue
authors: ZY
authors: Wang
authors: Li-juan
authors: LJ
authors: Cao
authors: Ming-hua
authors: MH
authors: Jiang
authors: Xiong-hua
authors: XH
authors: Sun
authors: Xia
authors: X
authors: Bai
authors: Chang-geng
authors: CG
authors: Ruan
mesh_terms: D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000328:Adult; D001792:Blood Platelets / Q000166:cytology; D004252:DNA Mutational Analysis; D004913:Erythrocytes, Abnormal; D005260:Female; D006461:Hemolysis / Q000235:genetics; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics* / Q000473:pathology; D007410:Intestinal Diseases / Q000235:genetics* / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008074:Lipoproteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010840:Phytosterols / Q000009:adverse effects / Q000097:blood / Q000235:genetics; D010976:Platelet Count; D013921:Thrombocytopenia / Q000235:genetics* / Q000473:pathology
chemical_list: C416945:ABCG5 protein, human; C416946:ABCG8 protein, human; D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters; D008074:Lipoproteins; D010840:Phytosterols