TABLE 1.
Summary table of studies selected for data extraction
| First author (year)Citation | Study purpose | Source population |
|---|---|---|
| Population‐based prevalence study | ||
| Carey (2000) 7 | To estimate the prevalence of PK deficiency in a general, white population | Former Northern Health Region of the United Kingdom |
| de Medicis (1992) 8 | To estimate the prevalence of PK deficiency associated with hemolytic anemia in Quebec | Quebec, Canada |
| Molecular PKLR screening study in a general population | ||
| Beutler (2000) 10 | To estimate the prevalence of PK deficiency in a general, predominately white population | 3785 anonymous individuals without PK deficiency in the USA, predominately white; 20 patients with PK deficiency, mostly white Americans |
| Chami (2016) 16 | To identify pleiotropic genetic mutations associated with RBC traits | Up to 130 273 individuals in 24 discovery cohorts and five ancestries: European, African American, Hispanic, East Asian, and South Asian ancestries |
| Figueroa (2018) 14 | To evaluate whether genetic mutations in kinases affect Tenofovir's efficacy in the treatment/prevention of HIV | 505 individuals in HIV prevention trials in Thailand, the USA, and South Africa |
| Manco (2001) 12 | To determine the frequency of allele 1456C‐T in a general population in Portugal | 616 unrelated Portuguese individuals |
| Svidnicki (2018) 13 | To evaluate PKLR mutations among Brazilian patients with PK deficiency and healthy individuals | 500 healthy Brazilian blood donors |
| Molecular PKLR screening study in areas with endemic malaria | ||
| Alves (2010) 18 | To evaluate the associations between malaria and sickle cell disease, G6PD, and PK deficiency | 257 unrelated samples (selected from 1056 total samples) from Santiago Island, Ecuador |
| Berghout (2012) 19 | To evaluate the frequency of PKLR mutations to address whether PKLR mutations are protective in malaria‐pressured areas | 387 unrelated individuals, primarily from African and Asian origin |
| Machado (2010) 17 | To evaluate possible associations between PKLR variants and malaria | 396 individuals, 316 from Africa (including malaria‐infected and uninfected children) and 80 from Portugal |
| Machado (2012) 20 | To determine PK deficiency prevalence in sub‐Saharan Africa, to evaluate PKLR variant frequency, and to evaluate the PK deficiency‐malaria association | 611 individuals in sub‐Saharan Africa for gene frequency analysis, 296 for enzyme assays |
| Non‐molecular PK deficiency screening study in a general population | ||
| Feng (1993) 32 | To establish a reference interval of PK activity and to determine PK deficiency prevalence in local Chinese population | 497 healthy men and 100 neonates in China |
| Fox (1969) 33 | To evaluate two different screening methods for erythrocyte enzyme deficiencies | 1000 blood samples from individuals in a general hospital in the USA |
| Fung (1969) 31 | To determine the incidence of PK deficiency and G6PD deficiency in the Chinese newborn in Hong Kong and the possible relation of PK deficiency with neonatal jaundice | 700 consecutive neonates in Hong Kong |
| Garcia (1979) 28 | To estimate prevalence of enzyme deficiencies including PK deficiency in a Spanish population | 1636 hematologically normal individuals in Spain |
| Mohrenweiser (1981) 34 | To evaluate the frequency of genetic variants resulting in total or near total loss of enzyme activity for nine human erythrocyte enzymes | 675 neonates and 200 of their parents in the USA (697 total assayed for PK deficiency) |
| Mohrenweiser (1987) 35 | To estimate the frequency of enzyme deficiency variants including PK deficiency | 2020 unrelated neonates in the USA |
| Tanaka (1971) 30 | To offer a thorough description of PK diagnosis and epidemiology | 146 normal individuals in the USA |
| Tsang (1993) 27 | To evaluate a new PK enzyme activity assay | 193 healthy adults in Hong Kong |
| Wu (1985) 29 | To estimate the prevalence of PK deficiency in a Chinese population of clinically normal neonates | 1159 random clinically normal infants from China |
| Non‐molecular PK deficiency screening study in areas with endemic malaria | ||
| El‐Hazmi (1986) 36 | To estimate PK deficiency and hexokinase deficiency in a population with a high frequency of G6PD deficiency | 3120 individuals in outpatient clinics in Saudi Arabia |
| Munyanganizi (2006) 37 | To determine the prevalence of hemoglobin variants including PK deficiency in Rwanda | 987 neonates in Rwanda |
| Upadhye (2018) 38 | To estimate the prevalence of hemoglobinopathies and enzyme deficiencies in India | 2400 neonates in India |
| Non‐molecular PK deficiency screening study in areas with high consanguinity | ||
| Abu‐Melha (1991) 44 | To explore the prevalence of PK deficiency in Saudis | 513 clinically normal neonates in Saudi Arabia |
| Akin (1997) 41 | To explore the prevalence of PK deficiency in a Turkish population | 1190 unrelated individuals from Turkey |
| Al‐Naama (1994) 42 | To explore erythrocyte activities including PK deficiency in Iraq | 1226 clinically normal neonates and 498 healthy students in Iraq (n = 1724 total) |
| Al‐Naama (1995) 43 | To estimate red blood cell enzyme deficiencies including PK deficiency in a population with high G6PD deficiency prevalence | 506 clinically normal neonates and 343 healthy adults (n = 849 total) |
| Christensen (2010) 9 | To report on neonates with PK deficiency, encourage clinicians to consider PK deficiency diagnosis, and discuss PK deficiency in a polygamous community | 153 830 neonates screened for jaundice in the USA |
| Yavarian (2008) 40 | To estimate PK deficiency prevalence in a south Iranian population | 4017 randomly selected individuals from Iran |
| Non‐molecular PK deficiency screening in other unique population | ||
| Mohrenweiser (1984) 45 | To evaluate the prevalence of rare electrophoretic mobility variants including PK deficiency among Native Americans | Approximately 10% of 629 Native Americans |
| Satoh (1983) 46 | To explore enzyme activity including PK in children of parents exposed to atomic bomb radiation in Japan | 3069 children of individuals exposed to atomic bomb radiation in Japan |
| Satoh (1985) 47 | To explore the frequency of inherited variations in enzyme thermostability including PK within a population of children of atomic bomb survivors | 974 children of individuals exposed to atomic bomb radiation in Japan |
| Molecular PKLR screening in other unique population | ||
| Lyon (2011) 22 | To explore the hypothesis that rare family specific genetics may account for the remaining missing heritability of ADHD | A family of 4 of whom 3 have ADHD |
| Robinson (2010) 21 | To explore the hypothesis that rare family specific genetics may account for the remaining missing heritability of ADHD | A family of 4 of whom 3 have ADHD |
Abbreviations: ADHD, attention‐deficit hyperactivity disorder; G6PD, glucose‐6‐phosphate dehydrogenase; HIV, human immunodeficiency virus; PK deficiency, pyruvate kinase deficiency; PK, pyruvate kinase; RBC, red blood cell; USA, United States of America.