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Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
- Source :
- Blood. 95:3585-3588
- Publication Year :
- 2000
- Publisher :
- American Society of Hematology, 2000.
-
Abstract
- 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 C→T(1456T), c.1468 C→T(1468T), c.1484 C→T(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 × 10−3. Among African Americans the frequency of the 1456T mutation was 3.90 × 10−3 The only mutation found in the limited number of Asians tested was 1468T at a frequency of 7.94 × 10−3. 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.
- Subjects :
- Hemolytic anemia
Anemia, Hemolytic
medicine.medical_specialty
Asia
Erythrocytes
Genotype
Pyruvate Kinase
Immunology
Population
Biology
Biochemistry
White People
Gene Frequency
Internal medicine
Ethnicity
medicine
Humans
education
Allele frequency
Genetics
education.field_of_study
Red Cell
Genetic Carrier Screening
Cell Biology
Hematology
medicine.disease
United States
Arabs
Europe
White (mutation)
Endocrinology
Amino Acid Substitution
Mutation
Mutation (genetic algorithm)
Brazil
Pyruvate kinase
Pyruvate kinase deficiency
Subjects
Details
- ISSN :
- 15280020 and 00064971
- Volume :
- 95
- Database :
- OpenAIRE
- Journal :
- Blood
- Accession number :
- edsair.doi.dedup.....202f52ea53f9b1e71fc023e38cbdb26c
- Full Text :
- https://doi.org/10.1182/blood.v95.11.3585