Eleftheria Hatzimichael: A Contemporary Diagnostic Approach to Inherited Microcytic Anemias
Eleftheria Hatzimichael, Special Secretary of the Board of Directors at Hellenic Society of Hematology, shared a post on LinkedIn about a recent article she and her colleagues co-authored, published in HemaSphere Journal, adding:
“When microcytosis is not simply iron deficiency…
Very pleased to share our new review, published today in HemaSphere Journal:
‘Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review.’
Microcytic anemia is common.
Its usual causes are familiar: iron deficiency, thalassemia traits and anemia of inflammation.
But what happens when the pieces do not fit?
When microcytosis is persistent or familial, when oral iron fails, or when ferritin and transferrin saturation tell an unexpected story, we need to look beyond the common diagnoses.
In this review, Alexandros Makis and I revisit the rare inherited disorders of iron metabolism and heme synthesis through a clinically oriented lens, from the hepcidin–ferroportin axis and erythroid iron regulation to mitochondrial iron utilization and heme biosynthesis.
We also propose a contemporary diagnostic approach integrating:
- clinical phenotype
- iron biomarkers
- hepcidin biology
- molecular testing
The key clinical message is simple:
Not every microcytic anemia is iron deficiency and not every patient with microcytosis needs more iron.
Recognizing these rare disorders matters.
An accurate diagnosis can prevent unnecessary treatment and investigations, identify patients at risk of iron overload and irreversible organ damage, and enable appropriate genetic counselling.”
Title: Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review
Authors: Alexandros Makis, Ioanna Saougou, Eleftheria Hatzimichael
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