Familial erythrocytosis is heterogeneous with diverse causes. Using a highly informative, simple sequence repeat polymorphism in the 5' region of the erythropoietin receptor gene (EPOR), we did linkage analysis in a large family whose clinical and genealogical features were known. There were no recombinations between the disease phenotype and the polymorphism, the logarithm of odds score for linkage at zero recombination being 6.37. This highly significant linkage indicates that a mutation in EPOR is most probably responsible for the disease phenotype in this family.
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Article Synopsis
- Many cases of erythrocytosis and thrombocytosis are still classified as "idiopathic" due to factors like lack of secondary causes or inconclusive tests, despite advancements in genetic testing.
- Next-generation sequencing (NGS) was reviewed in 175 patients, leading to diagnoses in a small number: 5.1% for polycythaemia vera and 6.8% for familial erythrocytosis, with low EPO levels and family history being predictors.
- The study found a higher success rate in diagnosing thrombocytosis cases, with 25.9% identified as having essential thrombocythemia, but overall, the low variant detection rate suggests the need for comprehensive initial screening before using N
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