Community Genetics in Real Time: Congenital Anomalies and Genetic Disorders in an Israeli Arab Town with Elevated Consanguinity Rates

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Published Apr 30, 2025
DOI: https://doi.org/10.18103/mra.v13i4.6506

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Main Article Content

Lutfi Jaber, MD
The Bridge to Peace Community Pediatric Center, Taibe, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Samer Smara, MD
Clalit Services Center, Tira, Israel
Fairoz Jayyusi, MD
Hillel Yaffe Medical Center, Hadera, Israel
Sima Haj Yahya, BSc
The Bridge to Peace Community Pediatric Center, Taibe, Israel
Lina Basel – Vanagaite, MD
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva. Israel
Gary Diamond, MD
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva. Israel

Abstract

Background: To ascertain rates of congenital malformation and genetic diseases in a local where parental consanguinity is high. 
Methods: We reviewed the medical charts of 7,200 children over a 6-year period. The study is a retrospective compilation of the chart reviews in a semi-urban Muslim Arab town which were previously presented. 
Results: The results of our study revealed a high rate of congenital anomalies in our study group (7.33%), this compares to other studies in highly consanguineous communities where the frequency of anomalies in children and young adults was found to be 6%.
In our study group, the most important genetic disorders and congenital anomalies (in the group of children whom we studied in this survey) were cardiovascular anomalies, hemoglobinopathies, neural tube defects, monilethrix, and chromosomal disorders.
Conclusions: Our survey, focused on one particular town, is presented as a model of epidemiological ascertainment for other communities as well, and includes recommendations, at a community level, to decrease rates of genetic disorders and malformations. The survey is important considering the numerous worldwide communities and populations where, due to social and religious customs, consanguinity continues to present challenges to efforts by the health system to reduce neonatal morbidity and mortality.
Keywords: Community Genetics, Congenital Anomalies, Genetic Diseases, Consanguineous marriages 

Article Details

How to Cite
JABER, Lutfi et al. Community Genetics in Real Time: Congenital Anomalies and Genetic Disorders in an Israeli Arab Town with Elevated Consanguinity Rates. Medical Research Archives, [S.l.], v. 13, n. 4, apr. 2025. ISSN 2375-1924. Available at: <https://esmed.org/MRA/mra/article/view/6506>. Date accessed: 15 may 2025. doi: https://doi.org/10.18103/mra.v13i4.6506.
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Issue
Vol 13 No 4 (2025): Vol.13, Issue 4, April 2025
Section
Review Articles

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References

1. Davies DP, Evans DJR. Clinical dysmorphology: understanding congenital abnormalities. Curr Pediatr. 2003;13:288-297.
2. McIntosh R, Merrit K, Richards M, Samrels M, Bellows M. The incidence of congenital malformations: a study of 5964 pregnancies. Pediatrics. 1954;14:505-513.
3. Onyambu CK, Tharamba NM. Screening for congenital fetal anomalies in low-risk pregnancy: the Kenyatta National Hospital experience. BMC Pregnancy Childbirth. 2018;18(1):180.
4. Feldkamp ML, Carey JC, Byrne JLB, Krikov S, Botto LD. Etiology and clinical presentation of birth defects: a population-based study. BMJ. 2017;357:j2249.
5. Tennant PW, Pearce MS, Bythell M, Rankin J. 20-year survival of children born with congenital anomalies: a population-based study. Lancet. 2010;375(9715):649-656.
6. Loane M, Dolk H, Morris JK; EUROCAT Working Group. Maternal age-specific risk of non-chromosomal anomalies. BJOG. 2009;116(8):1111-1119.
7. Glinianaia SV, Rankin J, Wright C. Congenital anomalies in twins: a register-based study. Hum Reprod. 2008;23(6):1306-1311.
8. Sokal R, Tata LJ, Fleming KM. Sex prevalence of major congenital anomalies in the United Kingdom: a national population-based study and international comparison meta-analysis. Birth Defects Res A Clin Mol Teratol. 2014;100(2):79-91.
9. Jaber L, Halpern GJ, Shohat T. Trends in the frequencies of consanguineous marriages in the Israeli Arab community. Clin Genet. 2000;58(2):106-110.
10. Jaber L, Igbaria A, Karim IA, et al. Awareness of folic acid for prevention of neural tube defects in a community with high prevalence of consanguineous marriages. Ann Genet. 2004;47(2):69-75.
11. Zlotogora J. Genetics and genomic medicine in Israel. Mol Genet Genomic Med. 2014;2(2):85-94.
12. Na'amnih W, Romano-Zelekha O, Kabaha A, et al. Prevalence of consanguineous marriages and associated factors among Israeli Bedouins. J Community Genet. 2014;5(4):395-398Jaber L, Shohat M, Bu X, et al. Sensorineural deafness inherited as a tissue-specific disorder. J Med Genet. 1992;29(2):81-86.
13. Teebi A, Farag T. Genetic Disorders Among Arab Populations. Oxford: Oxford University Press; 1997:237-239.
14. Laufer–Cahana A, Leter L, Sagi M, et al. Cystic fibrosis in Israeli Arab patients. Hum Mutat. 1999;14(6):543.
15. Chiba-Falek O, Nissim-Rafinia M, Argaman Z, et al. Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet. 1998;6(2):181-184.
16. Brennan P, Young ID. Congenital heart malformations: aetiology and associations. Semin Neonatol. 2001;6:17-25.
17. Stoll C, Alembik Y, Roth MP, et al. Risk factors in congenital heart disease. Eur J Epidemiol. 1989;5(4):382-391.
18. Merrick J. Down syndrome in Israel. Down Syndr Res Pract. 2001;6(3):128-130.
19. Carrasquillo MM, Zlotogora J, Barges S, et al. Two connexin 26 mutations in an inbred kindred segregating non-syndromic deafness. Hum Mol Genet. 1997;6(12):2163-2172.
20. Boisson B, Abel L, Clark AG, et al; Greater Middle East Variome Consortium. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016;48(9):1071-1076.
21. Zlotogora J. Genetics and genomic medicine in Israel. Mol Genet Genomic Med. 2014;2(2):85–94.
22. Bailey LB, Rampersaud GC, Kauwell GP. Folic acid supplements and fortification affect the risk for neural tube defects, vascular disease and cancer: evolving science. J Nutr. 2003;133:1961S-1968S.
23. Czeizel AE, Bártfai Z, Bánhidy F. Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks. Ther Adv Drug Saf. 2011;2(4):173-188.
24. Amitai Y, Fisher N, Meiraz H, et al. Preconceptional folic acid utilization in Israel: five years after the guidelines. Prev Med. 2008;46(2):166-169.
25. Ebrahim S, Pearce N, Smeeth L, et al. Tackling non-communicable diseases in low- and middle-income countries: is the evidence from high-income countries all we need? PLoS Med. 2013;10(1):e1001377.
26. Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A. 2010;107(Suppl 1):1779-1786.
27. Hamamy H, Antonarakis SE, Cavalli-Sforza LL, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med. 2011;13(9):841-847.
28. Bittles AH, Black ML. Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A. 2010;107(Suppl 1):1779-1786.
29. Blencowe H, Moorthie S, Petrou M, et al; Congenital Disorders Expert Group. Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. J Community Genet. 2018;9(4):397-406.
30. Khoury MJ, McCabe LL, McCabe ER. Population screening in the age of genomic medicine. N Engl J Med. 2003;348(1):50-58.