Aljishi, T., Al Ghamdi, M. (2018). When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature. The Egyptian Journal of Hospital Medicine, 70(3), 511-513. doi: 10.12816/0043498
Taha B. Aljishi; Mohammad A. Al Ghamdi. "When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature". The Egyptian Journal of Hospital Medicine, 70, 3, 2018, 511-513. doi: 10.12816/0043498
Aljishi, T., Al Ghamdi, M. (2018). 'When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature', The Egyptian Journal of Hospital Medicine, 70(3), pp. 511-513. doi: 10.12816/0043498
Aljishi, T., Al Ghamdi, M. When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature. The Egyptian Journal of Hospital Medicine, 2018; 70(3): 511-513. doi: 10.12816/0043498
When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature
1Department of Medicine, King Fahd Hospital, Imam Abdulrahman Bin Faisal University, Dammam
2Department of Pediatrics, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
Abstract
This case report describes a newborn girl born with non-immune hydrops fetalis with bicytopenia and elevated iron indexes. A genetic study which was done revealed a positive result for the H63D homozygous mutation. Iron overload is rare in patients homozygous for the H63D mutation because of its variable penetrance, especially in the neonatal period. The possibility of neonatal hemochromatosis (NH) on top of positive results for hereditary hemochromatosis (HH) was anticipated. Despite all the recommended healthcare measurements being provided for both diagnoses, the child developed liver failure of unspecified etiology and was deceased afterward.
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