title: A family with hereditary thrombocythaemia and normal genes for thrombopoietin and c-Mpl.
abstract: Hereditary thrombocythaemia (HT) is an inherited autosomal dominant disorder. Recent studies reported six different mutations, four within the thrombopoietin (TPO) gene and two within c-Mpl (TPO receptor) gene in six unrelated families with HT. This study investigated the molecular basis of hereditary thrombocythaemia in an Israeli-Jewish family. We screened the genes for TPO and c-Mpl by amplification and sequencing of all the corresponding exons including exon/intron boundaries and promoters. In addition, plasma levels of TPO and erythropoietin (EPO) were measured. No abnormality in the TPO/c-Mpl genes has been identified in affected HT family members. Plasma TPO and EPO levels were found to be normal/low or normal respectively in the individuals affected. In conclusion, lack of a molecular lesion within either TPO or cMpl genes indicate that HT may be caused by factors other than TPO-cMpl axis in this family.
authors.affiliation: Thrombosis and Haemostasis Unit, Beilinson Hospital, Rabin Medical Centre, Petah Tikva, Israel.
authors.forename: N
authors.initials: N
authors.lastname: Tecuceanu
authors.forename: R
authors.initials: R
authors.lastname: Dardik
authors.forename: E
authors.initials: E
authors.lastname: Rabizadeh
authors.forename: P
authors.initials: P
authors.lastname: Raanani
authors.forename: A
authors.initials: A
authors.lastname: Inbal
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004921:Erythropoietin / Q000097:blood; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D013922:Thrombocytosis / Q000097:blood / Q000235:genetics*; D013926:Thrombopoietin / Q000097:blood / Q000235:genetics*
chemical_list: D053628:Receptors, Thrombopoietin; D004921:Erythropoietin; C082218:MPL protein, human; D004247:DNA; D013926:Thrombopoietin