Which are the symptoms of Neonatal Hemochromatosis?

Neonatal Hemochromatosis (NH) is a rare and severe condition characterized by excessive iron accumulation in the liver and other organs of a newborn baby. It is a devastating disease that can lead to liver failure and even death if not diagnosed and treated promptly. The symptoms of Neonatal Hemochromatosis can vary, but there are several key indicators that may suggest its presence.

1. Jaundice:

One of the most common symptoms of Neonatal Hemochromatosis is jaundice, which is the yellowing of the skin and eyes. This occurs due to the buildup of bilirubin, a yellow pigment produced when red blood cells are broken down. Jaundice in NH is typically severe and appears within the first few days of life.

2. Enlarged Liver and Spleen:

Neonates with Hemochromatosis often have an enlarged liver and spleen. The liver may feel firm and be palpable below the rib cage. This enlargement is a result of iron deposition and inflammation in these organs.

3. Poor Weight Gain:

Babies affected by Neonatal Hemochromatosis may have difficulty gaining weight or may even experience weight loss. This can be attributed to liver dysfunction and impaired nutrient absorption.

4. Abnormal Liver Function Tests:

Laboratory tests may reveal abnormal liver function in infants with NH. Elevated levels of liver enzymes, such as alanine transaminase (ALT) and aspartate transaminase (AST), may indicate liver damage.

5. Coagulation Abnormalities:

Neonates with Hemochromatosis may exhibit coagulation abnormalities, such as prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT). These abnormalities can lead to excessive bleeding or clotting problems.

6. Ascites:

Ascites, the accumulation of fluid in the abdominal cavity, can occur in severe cases of Neonatal Hemochromatosis. This may cause abdominal distension and discomfort in affected infants.

7. Failure to Thrive:

Due to liver dysfunction and associated complications, babies with NH may fail to thrive. They may have poor feeding, reduced appetite, and inadequate growth.

8. Anemia:

While iron overload is a hallmark of Neonatal Hemochromatosis, paradoxically, affected infants may also develop anemia. This can be attributed to the destruction of red blood cells and impaired production of new ones.

If a newborn exhibits any of these symptoms, it is crucial to seek immediate medical attention. Neonatal Hemochromatosis is a rapidly progressive condition, and early diagnosis is essential for appropriate management and treatment.