Open AccessHereditary hemochromatosis and JAK2‐positive polycythemia vera
Author(s) -
Radwan Ahmed,
Othman Ibraheem
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4907
Subject(s) - polycythemia vera , medicine , transferrin saturation , hereditary hemochromatosis , hemochromatosis , phlebotomy , gastroenterology , ferritin , genetic testing , mutation , compound heterozygosity , genetics , gene , serum ferritin , biology
A 59‐year‐old man was diagnosed with JAK2‐positive polycythemia vera. Subsequently, further laboratory testing revealed elevated ferritin and iron saturation. Genetic testing for HFE gene mutation screen revealed that the patient was positive for heterozygous C282Y mutation. The patient was ultimately diagnosed with both polycythemia vera and hereditary hemochromatosis.