Ferrochelatase deficiency in an infant with anemia and growth delay

Area of Science:

• Biochemistry
• Pediatric Hematology

Background:

• Ferrochelatase (heme synthetase) deficiency is a rare genetic disorder affecting heme synthesis.
• Iron overload and hypochromic anemia are key clinical manifestations.

Observation:

• A 5-month-old infant presented with symptoms of hypochromic anemia and iron overload.
• The infant exhibited significant growth retardation.

Findings:

• The infant's condition was attributed to a deficiency in ferrochelatase (heme synthetase) activity.
• Decreased activity of iron-containing enzymes, without other identifiable causes, was identified as the primary factor contributing to growth retardation.

Implications:

• This case highlights the critical role of ferrochelatase in iron metabolism and overall growth.
• Understanding enzyme deficiencies is crucial for diagnosing and managing pediatric growth disorders.