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Blood, Vol. 95 No. 11 (June 1), 2000:
pp. 3585-3588
Estimating the prevalence of pyruvate kinase deficiency from the
gene frequency in the general white population
Ernest Beutler and
Terri Gelbart
From the Department of Molecular and Experimental Medicine, The
Scripps Research Institute, La Jolla, CA.
Pyruvate kinase (PK) deficiency is the most common cause of
hereditary nonspherocytic hemolytic anemia. The prevalence of this deficiency is unknown, though some estimates have been made based on the frequency of low red cell PK activity in the
population. An additional 20 patients with hereditary
nonspherocytic hemolytic anemia caused by PK deficiency have been
genotyped. One previously unreported mutation 1153C T (R385W) was
encountered. The relative frequency of PK mutations in patients with
hemolytic anemia caused by PK deficiency was calculated from the
18 white patients reported here and from 102 patients previously
reported in the literature. DNA samples from 3785 subjects from
different ethnic groups have been screened for the 4 more
frequently encountered mutations c.1456 CT(1456T), c.1468
CT(1468T), c.1484 CT(1484T), and c.1529 G6A (1529A)by
allele-specific oligonucleotide hybridization. Among white patients the
frequency of the 1456T mutation was 3.50 × 10 3; that
of the 1529A mutation was 2.03 × 103. Among African
Americans the frequency of the 1456T mutation was
3.90 × 103 The only mutation found in the limited
number of Asians tested was 1468T at a frequency of
7.94 × 103. Based on the gene frequency of the 1529A
mutation in the white population and on its relative abundance in
patients with hemolytic anemia caused by PK deficiency, the prevalence
of PK deficiency is estimated at 51 cases per million white
population. This number would be increased by inbreeding and
decreased by failure of patients with PK deficiency to survive.
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