Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity
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RESEARCH
Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non‑consanguinity communities G. Hazan1, E. Hershkovitz1,2 and O. Staretz‑Chacham2,3*
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 reces‑ sive 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 popula‑ tion, 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 chil‑ dren 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 nonconsanguineous Jewish population of Southern Israel. Health policy makers should consider these data and prepare educational and genetic counselling problems accordingly. Keywords: Inherited metabolic diseases, Consanguinity, Jewish, Bedouin-muslim, Prevalence Background Inherited metabolic disorders (IMD’s) comprise a heterogeneous group of over 500 rare monogenic diseases, mostly derived from reduced or absent activity in a single metabolic pathway [1, 2]. Approximately 80% of *Correspondence: [email protected] 2 Metabolic Clinic, Soroka University Medical Center, Ben Gurion University, 151 Rager Ave., Beer Sheva, Israel Full list of author information is available at the end of the article
the IMD are inherited in an autosomal recessive manner [3]. The clinical outcomes of IMD are often severe, although, disease progression and deterioration may be related to delayed timing of the appropriate diagnosis [4, 5]. There might be an overlap of clinical presentation between different diseases, hence diagnoses of IMD can be challenging. Reported incidence of IMDs in the literature varies from country to country and even within different regions in the same country. Although the incidence of
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