Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant.
نویسندگان
چکیده
We report a family with a new hexokinase variant that gives rise to nonspherocytic hemolytic anemia in one apparently homozygous family member. The variant enzyme has a normal pH optimum, normal reaction kinetics, and normal electrophoretic properties, but has reduced activity and is apparently inactivated rapidly as the affected erythrocytes age.
منابع مشابه
Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency.
An 11-yr-old child with mild chronic hemolytic anemia was found to have decreased red cell hexokinase activity in spite of the reduced mean age of her red cell population. Similar decreases in red cell hexokinase activity were documented in the patient's parents and in one sib. The red cells were morphologically normal. Red cell 2,3-DPG levels were normal and ATP and glucose-6-phosphate levels ...
متن کاملGeneralized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia.
In a patient with nonspherocytic hemolytic anemia, a hexokinase deficiency was detected in the red cells (residual activity about 25% of normal) and in blood platelets (20%-35% of normal activity). Although the total hexokinase activity in lymphocytes was normal, the amount of hexokinase type I was decreased to about 50% of normal. However, the deficiency was compensated for by the appearance o...
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متن کاملHuman erythrocyte hexokinase deficiency. Characterization of a mutant enzyme with abnormal regulatory properties.
In the erythrocytes of a patient with hereditary nonspherocytic hemolytic anemia, a homozygous expression of hexokinase deficiency was detected. The mutant enzyme was characterized by normal kinetic parameters with respect to its substrates, glucose and MgATP2-, normal pH optimum, normal heat stability at 40 degrees C, but abnormal behavior with respect to its regulation by glucose-1,6-diphosph...
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عنوان ژورنال:
- Blood
دوره 51 1 شماره
صفحات -
تاریخ انتشار 1978