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Juvenile hemochromatosis is a rare inherited disorder of iron regulation leading to iron overload, which usually presents before the age of 30. One of the most serious clinical characteristics associated with early-onset iron overload is liver disease with eventual cirrhosis, often associated with a reduced life expectancy even after treatment. This case report summarizes an asymptomatic pediatric patient with persistently elevated transaminase levels, which led to a diagnosis of juvenile hemochromatosis relatively early in the course of his disease. The aim of this case report is to increase awareness and stress the importance of early diagnosis and treatment, as it is vital to prevent life-threatening complications and optimize patient outcomes. Consideration should be taken to recognize potential manifestations despite the rarity of the condition. Patients with signs of hepatocellular injury without explanation should prompt evaluation including consideration for iron overload after other common causes are ruled out.

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Developmental hemostasis describes the evolution of the coagulation system from the neonatal period through adulthood. Neonates have lower levels of coagulation factors and elevated screening levels at birth. These levels can be influenced by various circumstances including gestational age, labor effects, and clinical status. The most commonly used screening tests for coagulopathy are the prothrombin time, partial thromboplastin time, and fibrinogen level. These values can be difficult to interpret as every laboratory has its own age-specific reference ranges. An understanding of developmental hemostasis is important when evaluating, diagnosing, and treating clinical manifestations, including vitamin K deficiency, surgical needs, infections, inherited thrombophilias, and inherited bleeding disorders. The mainstay of treatment for bleeding or hemorrhage is platelet and fresh frozen plasma transfusions. For the treatment of thrombosis, unfractionated heparin and low-molecular-weight heparin are the 2 most commonly used anticoagulants in the neonatal setting.

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