PMC5611484_01
PMC5611484_02
Heterozygous MPL R102P mutation induces a mild thrombocytosis with high thrombopoietin (TPO) levels. Pedigree from a family harboring a mild thrombocytosis with platelet counts around 600 x 109/L. The proband indicated by an arrow was diagnosed at 42 years old and one of her daughter was 21 years old. MPL was sequenced and a heterozygous MPL R102P mutation was identified. TPO levels were found elevated 119 and 260 pg/mL. Another daughter presented a high TPO level 131 pg/mL but without disease.
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F1
All exons of MPL and JAK2 genes were sequenced in the proband's DNA extracted from total blood cells (indicated by an arrow in Figure 1) using the BigDye Terminator chemistry (Life Technologies) on an ABI3730 Genetic Analyser (Applied Biosystem).