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 | ||||
| Article 29, Volume 70, Issue 3, January 2018, Page 511-513 PDF (289.19 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.12816/0043498 | ||||
 View on SCiNiTO | ||||
| Authors | ||||
Taha B. Aljishi  1; Mohammad A. Al Ghamdi2
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| 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. | ||||
| Keywords | ||||
| HFE gene; p.H63D; ferritin; iron overload; Neonate; non-immune hydrops fetalis; Anemia; thrombocytopenia | ||||
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