[Chronic non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency in a Costa Rican family carrying hemoglobin C disease].
The two first homozygous (or double heterozygous) cases of pyruvate kinase (PK) deficiency found in a Costa Rica family with no signs of consanguinity are reported. The clinical manifestations of the deficiency were present in both cases, these being enhanced in one of them by pregnancy. The family study performed showed the heterozygous character of the PK deficiency in all cases, plus the demonstration in two instances (father and brother) of a heterozygous haemoglobin C disease. The importance of the PK/HK quotient in the identification of the PK deficiency heterozygous is stressed, especially when the enzyme activity registered from haemolysates falls within the normal range.
Chaves
M
M
Cátedra de Hematología, Facultad de Microbiología, Universidad de Costa Rica.
Vives-Corrons
J L
JL
Sáenz
G F
GF
Pujades
M A
MA
Briceño
J
J
Colomer
D
D
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D003364:Costa Rica; D005260:Female; D006445:Hemoglobin C Disease / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics; D015323:Pyruvate Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*
D011770:Pyruvate Kinase
Anemia hemolítica crónica no esferocítica (AHCNE) por déficit de piruvato quinasa (PK) en una familia costarricense portadora de hemoglobinopatía C.