PEDIATRICS Vol. 45 No. 2 February 1970, pp. 230-235
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NONSPHEROCYTIC CONGENITAL HEMOLYTIC ANEMIA DUE TO A NEW G-6-PD VARIANT: G-6-PD ALHAMBRA

Ernest Beutler M.D.1 and Robert Rosen M.D.1

1 City of Hope National Medical Center, Duarte, California

An 11-year-old boy was first known to have a hemolytic episode at the age of 8 years, and a diagnosis of nonspherocytic congenital hemolytic anemia due to G-6-PD deficiency was made soon after the hemolytic episode. The red cells of the patient contained a level of G-6-PD activity approximating 10 to 25% of normal. The residual enzyme was partly purified and characterized. It proved to be electrophoretically slow, and was kinetically essentially normal. The thermal stability of the enzyme was reduced and its stability in vivo was markedly diminished. This enzyme represents a new variant which has been named G-6-PD Alhambra.

Submitted on August 20, 1969
Accepted on October 6, 1969




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A. Yoshida
Hemolytic Anemia and G6PD Deficiency: Physiologic activity, not in vitro activity, of enzymes is related to the severity of genetic diseases
Science, February 9, 1973; 179(4073): 532 - 537.
[Abstract] [PDF]