The impact of consanguinity on the frequency of inborn errors of metabolism

• Published in: Danish medical journal Vol. 65; no. 10
• Main Authors: Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming
• Format: Journal Article
• Language: English
• Published: Denmark 01.10.2018
• Subjects: Consanguinity; Denmark - epidemiology; Female; Humans; Incidence; Infant, Newborn; Male; Metabolism, Inborn Errors - ethnology; Metabolism, Inborn Errors - genetics; Neonatal Screening; Retrospective Studies; Denmark
• ISSN: 2245-1919; 2245-1919

We investigated the frequency of con-sanguinity among the parents to newborns with inborn errors of metabolism (IEM) diagnosed by neonatal screening. Data were obtained from 15 years of national newborn screening for selected IEM with autosomal recessive mode of inheritance. Among the 838,675 newborns from Denmark, The Faroe Islands and Greenland, a total of 196 newborns had an IEM of whom 155 from Denmark were included in this study. These results were crosschecked against medical records. Information on consanguinity was extracted from medical records and obtained through telephone contact with the families. Among ethnic Danes, two cases of consanguinity were identified among 93 families (2.15%). Among ethnic minorities, there were 20 cases of consanguinity among a total of 33 families (60.6%). Consequently, consanguinity was 28.2 times more frequent among descendants of other geographic places of origin than Denmark. The frequency of consanguinity was high among children of Pakistani, Afghan, Turkish and Arab origin (71.4%). The overall frequency of IEM was 25.5 times higher among children of these ethnic groups than among ethnic Danish children (5.35:10,000 versus 0.21:10,000). The frequency of IEM was 30-fold and 50-fold higher among Pakistanis (6.5:10,000) and Afghans (10.6:10,000), respectively, compared with ethnic Danish children. The data indicate a strong association between consanguinity and IEM. These figures may be useful to health professionals providing antenatal, paediatric and clinical genetic services. none. not relevant.