DEFICIENCIA DE HEXOQUINASA PDF

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Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1 , the gene that encodes red blood cell-specific hexokinase-R. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs.

Check this box if you wish to receive a copy of your message. Disease definition Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Health care resources for this disease Expert centres Diagnostic tests 19 Patient organisations 27 Orphan designation s and orphan drug s 0. Specialised Social Services Eurordis directory.

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