Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities

Abstract

Background Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within different ethnic groups, but data is still scarce. Consanguinity rate among populations is highly contributor factor for IMDs incidence. There are no reports comparing the incidence of IMD in consanguineous and non-consanguineous populations from the same geographic region with the same diagnostic capabilities. Our study objective is to compare the incidence of IMDs between between the relatively low consanguineous Jewish population and the consanguineous Bedouin population, both living in the southern of Israel. Results During 1990–2017 there were 393,772 live births in the Negev district, of Southern of Israel. Among them 187,049 were of Jewish origin while 206,723 were of Bedouin-Muslim origin. A total of 223 children were diagnosed in this study period with IMDs. Among those 223 children with IMD, 33 were of Jewish origin while the other 190 children were of Bedouin-Muslim origin. The overall incidence for IMDs of the overall Negev population was 56.6/100,000 live birth. The incidence for IMD's among the Bedouin population was significantly higher than among Jewish population. Conclusions IMDs are extremely more common in the consanguineous Bedouin compared with the relatively non-consanguineous Jewish population of Southern Israel. Health policy makers should consider these data and prepare educational and genetic counselling problems accordingly.

Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study

“…The incidence of the IEM that we have described in our study is in accord with that reported by Hazan et al (2020) . Due to the high rate of consanguinity, the Negev region has a substantially higher incidence of IEM than the reported global incidence ( Waters et al, 2018 ).…”

“…A plausible explanation for the significant differences in the incidence of the diseases would be related to the composition of the populations included in each study. The majority of women included in our study were of Bedouin origin, who are known to have a higher consanguinity rate, as reported previously (Hazan et al, 2020). In their study, Moammar et al (2010) discussed the incidence of IEM in the Eastern Province of Saudi Arabia, where there is a high consanguinity rate, and families tend to have more children, similar to the Bedouin population in the Negev region of Israel; the incidence of the same three groups of IEM in their study was LSD 44 per 100,000, mitochondrial diseases 8 per 100,000, and GSD 10 per 100,000, which with the exception of LSD incidence, are quite similar to our report.…”

“…IEM affect 1/800–2,500 deliveries worldwide ( Behrman richard and Klieegman robert, 2018 ). Its prevalence reaches from 56.6 to 100,000 or 1/2000 live births among the Bedouin population ( Hazan et al, 2020 ) that resides in the Negev region of the southern part of Israel and has a high consanguinity rate ( Singer et al, 2020 ). Indeed, the incidence of glycogen storage diseases (GSD) among the Bedouins is 11.2 in 100,000 or 1.12/10,000 live births ( Hazan et al, 2020 ) when compared to the 1/20,000–40,000 live births in Europe, Canada, and the United States ( Pritchard and Center, 2019 ), thus giving us a unique opportunity to study the prenatal characteristics of IEM in our population.…”

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population

“…Therefore, our results may not accurately reflect the urban and rural distribution of IMDs in the Suqian area. Besides, this study could not provide detailed information on the routine biochemistry of patients and their mothers (Bower et al, 2019;Hazan et al, 2020;Raskind and El-Chaar, 2000;Scriver et al, 2001;Tebani et al, 2016;The People's Government of Jiangsu Province, 2019). participated in its design and coordination, and wrote the manuscript.…”

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

“…Closer prenatal follow-up and appropriate genetic consultation after the delivery or diagnosis of either patient V2 or V6 is warranted, especially with the consanguinity in this extended Bedouin family. However, due to cultural beliefs no genetic consultation was performed before patient V3 was born, and she was diagnosed by NBS with a high index of suspicion, like patient V14, who was born before the extended Israeli NBS was started and presented later in life [27].…”