AI Article Synopsis
- A 23-year-old woman was diagnosed with macrocytic hemolytic anemia and iron overload, making her case complex to classify.
- Key lab findings included high serum ferritin and transferrin saturation, alongside low serum transferrin and ceruloplasmin.
- Genetic testing revealed a new mutation in the PIEZO1 gene, previously linked to dehydrated hereditary stomatocytosis, emphasizing the need to consider this condition when diagnosing iron overload with hemolytic anemia in younger patients.
Article Abstract
Differential diagnosis of juvenile hemochromatosis along with hemolytic anemia is often difficult. We report a 23-year-old woman with macrocytic hemolytic anemia with iron overload. The patient showed high serum ferritin and transferrin saturation and low serum transferrin and ceruloplasmin. We also noticed stomatocytes in her blood smear, which was confirmed by scanning electron microscopy. Target gene sequencing identified a mutation in PIEZO1 (heterozygous c.6008C>A: p.A2003D). This mutation was reported previously in a family with dehydrated hereditary stomatocytosis (DHS1, [OMIM 194380]), but in the current case, it was identified to be a de novo mutation. We underscore DHS1 in the differential diagnosis of iron overload associated with non-transfused hemolytic anemia in children and young adults.
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| http://dx.doi.org/10.1097/MPH.0000000000002639 | DOI Listing |
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