A novel stomatocytosis variant showing marked abnormalities in intracellular [Na] and [K] with minimal haemolysis

European Journal of Haematology

Volumn 66, Issue 6, 2001, Pages 412-414

  Jarvis, Helen G ^a   Chetty, Margaret C ^a   Nicolaou, Anna ^b   Fisher, Julie ^c   Miller, Anne ^d   Stewart, Gordon W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF BRADFORD   (United Kingdom)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d ST PETER S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; ERYTHROCYTE FRAGILITY; ERYTHROCYTE MEMBRANE; FEMALE; HEMOLYSIS; HUMAN; LETTER; MEGALOCYTOSIS; POTASSIUM CELL LEVEL; POTASSIUM TRANSPORT; PRIORITY JOURNAL; RETICULOCYTOSIS; SODIUM CELL LEVEL; SODIUM TRANSPORT; STOMATOCYTOSIS;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BLOOD CELLS; FAMILY HEALTH; FEMALE; HEMOLYSIS; HUMANS; MALE; NUCLEAR FAMILY; PEDIGREE; POTASSIUM; SODIUM; VARIATION (GENETICS);

EID: 0034916863     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0609.2001.066006412.x     Document Type: Letter

References (13)

1. The hereditary stomatocytoses and allied disorders: Congenital disorders of erythrocyte membrane permeability to Na and K
2. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): Mapping of locus to chromosome 16 (q23-qter)
3. Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalaemia
4. Temperature effects on cation transport across the red cell membrane in the hereditary stomatocytosis syndromes
5. Hereditary stomatocytosis with marked pseudohyperkalaemia
6. Two British families with variants on the "cryohydrocytosis" form of hereditary stomatocytosis
7. Missing band 7 membrane protein in two patients with high Na, low K erythrocytes
8. Congenital haemolytic anaemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant
9. "Familial pseudohyperkalaemia Chiswick": A novel congenital thermotropic variant of K and Na transport across the human red cell membrane
10. Two further British families with the "cryohydrocytosis" form of hereditary stomatocytosis
11. Further studies of cold-sensitive variant of stomatocytosis
12. Recessive or dominant? Reclassification in the molecular age