Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

Wang, Zhaoyue

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. [electronic resource] - American journal of hematology Mar 2014 - 320-4 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1096-8652

10.1002/ajh.23619 doi


ATP Binding Cassette Transporter, Subfamily G, Member 5
ATP Binding Cassette Transporter, Subfamily G, Member 8
ATP-Binding Cassette Transporters--genetics
Adult
Anemia, Hemolytic, Congenital--genetics
Blood Platelets--ultrastructure
Cell Shape
Cholesterol--blood
DNA Mutational Analysis
Delayed Diagnosis
Diagnostic Errors
Erythrocytes, Abnormal--ultrastructure
Exons--genetics
Female
Humans
Hypercholesterolemia--blood
Intestinal Diseases--blood
Lipid Metabolism, Inborn Errors--blood
Lipoproteins--genetics
Male
Middle Aged
Osmotic Fragility
Pedigree
Phenotype
Phytosterols--adverse effects
Prevalence
Purpura, Thrombocytopenic, Idiopathic--diagnosis
Splenectomy
Splenomegaly--etiology
Thrombocytopenia--genetics
Vacuoles--ultrastructure
Xanthomatosis--etiology