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 / endescription / 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.
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Property / Canonical URI: https://id.who.int/icd/entity/1942043262 / rank
 
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CID11:ID_1942043262
Property / CURIE: CID11:ID_1942043262 / rank
 
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dki-india-ID_1942043262
Property / Canary Token: dki-india-ID_1942043262 / rank
 
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Concluído
Property / Verification Status: Concluído / rank
 
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Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank
 
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15 August 2026
Timestamp+2026-08-15T00:00:00Z
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CalendarGregorian
Precision1 day
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Property / Collection date: 15 August 2026 / rank
 
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Latest 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.
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ID_1942043262
    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.

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      CID11:ID_1942043262
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      dki-india-ID_1942043262
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      Concluído
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      15 August 2026
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