Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

American Journal of Hematology

Volumn 90, Issue 3, 2015, Pages E35-E39

  van Zwieten, Rob ^a   van Oirschot, Brigitte A ^b   Veldthuis, Martijn ^a   Dobbe, Johannes G ^c   Streekstra, Geert J ^c   van Solinge, Wouter W ^b   Schutgens, Roger E G ^d   van Wijk, Richard ^b  

^a CENTRAL LABORATORY   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ERYTHROCYTE BAND 3 PROTEIN; HEMOGLOBIN VARIANT; PYRUVATE KINASE; SOLUTE CARRIER FAMILY 4; ANKYRIN; SLC4A1 PROTEIN, HUMAN;

ABDOMINAL DISCOMFORT; ABDOMINAL PAIN; ADULT; ANEMIA; ARTICLE; BLOOD SMEAR; CASE REPORT; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; ERYTHROCYTE; ERYTHROCYTE DEFORMABILITY; ERYTHROCYTE DISORDER; ERYTHROCYTE FRAGILITY; FAMILY ASSESSMENT; FATIGUE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HEADACHE; HEINZ BODY; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN BLOOD LEVEL; HEMOGLOBINURIA; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; HUMAN; INDEL MUTATION; JAUNDICE; LABORATORY TEST; LOSS OF FUNCTION MUTATION; MALE; MEDICAL HISTORY; OSMOTIC FRAGILITY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETICULOCYTOSIS; SPLENOMEGALY; SYMPTOM; AGED; COMPLICATION; DEFICIENCY; DISORDERS OF CARBOXYLIC ACID METABOLISM; FEMALE; GENETICS; GENOTYPE; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE; INHERITANCE; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE;

ADENOSINE TRIPHOSPHATE; ADULT; AGED; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; ANKYRINS; ERYTHROCYTE DEFORMABILITY; ERYTHROCYTES; FEMALE; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MUTATION; OSMOTIC FRAGILITY; PEDIGREE; PHENOTYPE; PYRUVATE KINASE; PYRUVATE METABOLISM, INBORN ERRORS; SPHEROCYTOSIS, HEREDITARY;

EID: 84923030761     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23899     Document Type: Article

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