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.

All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.