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A family with hereditary thrombocythaemia and normal genes for thrombopoietin and c‐Mpl
Author(s) -
Tecuceanu N.,
Dardik R.,
Rabizadeh E.,
Raanani P.,
Inbal A.
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.06316.x
Subject(s) - thrombopoietin , exon , gene , erythropoietin , thrombopoietin receptor , intron , biology , genetics , medicine , microbiology and biotechnology , endocrinology , haematopoiesis , stem cell
Summary 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.