1.
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;24(2): 133-9, 1991. tab
Artículo
en Inglés
| LILACS
| ID: lil-99446
RESUMEN
A 27 year old Brazilian male of both Portuguese and Spanish origin presenting nonspherocytic chronic hemolytic anemia was found to have a rare glucose-6-phosphate dehydrogenase variant herein named Gd(-) Carapicuiba. The red blood cell enzyme variant is characterized by a moderate enzyme deficiency (47%), high Km for its substrates G6P and NADP, decreased activity against deamino-NADP, increased Ki for NADPH and decreased heat stability. The clinical signs of the patient are probably related to these properties of the enzyme variant
Asunto(s)
Adulto , Humanos , Masculino , Anemia Hemolítica Congénita no Esferocítica/enzimología , Eritrocitos/enzimología , Deficiencia de Glucosafosfato Deshidrogenasa/enzimología , Glucosafosfato Deshidrogenasa/genética , Anemia Hemolítica Congénita no Esferocítica/complicaciones , Variación Genética , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Glucosafosfato Deshidrogenasa/sangre , Hemólisis , Linaje
2.
Artículo
en Inglés
| IMSEAR
| ID: sea-42502