atransferrinaemiaAn extremely rare (eight cases in world literature) autosomal recessive condition (OMIM:209300) characterised by a complete absence of transferrin.
Severe microcytic hypochromic anaemia; haemosiderosis of liver, heart, pancreas, thyroid, kidney and joints, leading to liver and heart failure, arthropathy and hypothyroidism.
Putative mutation of TF.
Death is usually due to heart failure or pneumonia.
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