Hereditary atransferrinemia is rare condition associated with iron overload and microcytic anemia. The absence of transferrin means that no iron reaches erythroid precursors in the bone marrow, resulting in a microcytic anemia.
Chromosome: 3q22.1
Protein affected: transferrin
Inheritance: autosomal recessive
The full clinical picture is seen in homozygotes or complex heterozygotes. A heterozygote may show reduced serum transferrin (hypotransferrinemia).
Clinical features:
(1) pallor and fatigue
(2) microcytic anemia
(3) absent serum transferrin
(4) elevated serum ferritin
(5) hyperabsorption of iron from the gastrointestinal tract
(6) iron overload with elevated hepatic iron
Infusion of transferrin can restore normal erythopoiesis. This can be achieved by infusion fresh frozen plasma (FFP) or purified transferrin.
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