Nonspherocytic haemolytic anaemia due to hexokinase deficiency (Q99644): Difference between revisions
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Anemia hemolítica não esferocítica devido a deficiência de hexoquinase é caracterizada por hemólise grave, tendo início na infância. _x000D_ Dezessete famílias afetadas foram relatadas até o momento. A transmissão é autossômica recessiva. As mutações foram descritas no HK1, o gene que codifica a hexoquinase-R específica dos glóbulos vermelhos. | |||
| description / en | description / en | ||
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe haemolysis, 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. | |||
Revision as of 16:19, 16 August 2026
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe haemolysis, 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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1942043262 |
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| English | Nonspherocytic haemolytic anaemia due to hexokinase deficiency |
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe haemolysis, 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. |
