atransferrinaemia

(redirected from familial hypotransferrinaemia)

atransferrinaemia

An extremely rare (eight cases in world literature) autosomal recessive condition (OMIM:209300) characterised by a complete absence of transferrin.
 
Clinical findings
Severe microcytic hypochromic anaemia; haemosiderosis of liver, heart, pancreas, thyroid, kidney and joints, leading to liver and heart failure, arthropathy and hypothyroidism.

Molecular pathology
Putative mutation of TF.

Management
Parenteral transferrin.

Prognosis
Death is usually due to heart failure or pneumonia.
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