Regional Distribution of Ataxia-Telangiectasia Cases in Iran
Abstract
Background: Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radiosensitivity, and an increased risk of malignancies. This study aimed to evaluate the distribution of A-T patients, parenteral consanguinity status, and diagnostic delays in different provinces of Iran.
Methods: A retrospective observational and analytical study in which all A-T patients with a recorded place of birth or residency were included. A questionnaire was designed and filled out for each patient to extract data including date of birth, gender, parental consanguinity status, family history, age of disease onset, and age of disease diagnosis.
Results: A total of 203 A-T patients (104 males and 99 females) were included in the study. Out of a total of 31 provinces, A-T patients were diagnosed and reported in 25 different provinces, while six provinces had no registered A-T patients. Tehran province, the most densely populated province in Iran, reported the predominant number and frequency of cases (52 patients or 25.6%), followed by Khouzestan (16 cases, 7.9%), Alborz (12 cases, 5.9%) and Isfahan (12 cases, 5.9%) provinces. No statistically significant relationship was found regarding family history status. Hamedan followed by Sistan and Baluchestan, and Yazd provinces had the highest delay in diagnosis.
Conclusion: Our study showed that A-T is distributed in most provinces of Iran. We found a considerably high diagnostic delay among A-T patients in Iran, especially in resource-limited provinces, including Hamedan followed by Sistan and Baluchestan, and Yazd.
2. Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019;30(3):277-88.
3. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:1-21.
4. Fekrvand S, Abolhassani H, Esfahani ZH, Fard NNG, Amiri M, Salehi H, et al. Cancer trends in inborn errors of immunity: A systematic review and meta-analysis. J Clin Immunol. 2024;45(1):34.
5. Devaney R, Pasalodos S, Suri M, Bush A, Bhatt JM. Ataxia telangiectasia: presentation and diagnostic delay. Arch Dis Child. 2017;102(4):328-30.
6. Amirifar P, Mozdarani H, Yazdani R, Kiaei F, Moeini Shad T, Shahkarami S, et al. Effect of class switch recombination defect on the phenotype of ataxia-telangiectasia patients. Immunol Invest. 2021;50(2-3):201-15.
7. Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics. 1998;102(1 Pt 1):98-100.
8. Hassin-Baer S, Bar-Shira A, Gilad S, Galanty Y, Khosravi R, Lossos A, et al. Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia. J Neurol. 1999;246(8):716-9.
9. Woods CG, Bundey SE, Taylor AM. Unusual features in the inheritance of ataxia telangiectasia. Hum Genet. 1990;84(6):555-62.
10. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet. 1986;39(5):573-83.
11. Abolhassani H, Kiaee F, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, et al. Fourth update on the Iranian National Registry of Primary Immunodeficiencies: integration of molecular diagnosis. J Clin Immunol. 2018;38:816-32.
12. Abolhassani H, Azizi G, Sharifi L, Yazdani R, Mohsenzadegan M, Delavari S, et al. Global systematic review of primary immunodeficiency registries. Expert Rev Clin Immunol. 2020;16(7):717-32.
13. Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763-70.
14. Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S, et al. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015;355(1-2):3-6.
15. Hadizadeh H, Salehi M, Khoramnejad S, Vosoughi K, Rezaei N. The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta‐analysis. Pediatr Allergy Immunol. 2017;28(3):280-7.
16. Shawky RM, Elsayed SM, Zaki ME, El-Din SMN, Kamal FM. Consanguinity and its relevance to clinical genetics. Egypt J Med Hum Genet. 2013;14(2).
17. Hoodfar E, Teebi AS. Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J Med Genet. 1996;33(3):212-5.
18. Saadat M, Ansari-Lari M, Farhud D. Short report consanguineous marriage in Iran. Ann Hum Biol. 2004;31(2):263-9.
19. Neshan A, Tabatabaei SM, Mohammadi M, Narooie-Nejad M, Behmaneshpour F. The prevalence and patterns of consanguineous marriages and associated factors in Southeast Iran. Gene Cell Tissue. 2024;11(3).
20. Mahadevappa M, Kamble N, Kumar DS, Yadav R, Netravathi M, Pal PK. A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center. Ann Mov Disord. 2020;3(1):33-8.
21. van Os NJ, van Aerde KJ, van Gaalen J, Merkus PJ, Silveira-Moriyama L, Tajudin TA, et al. Diagnosis and management of ataxia-telangiectasia in resource-limited settings. J Int Child Neurol Assoc. 2020;1(1).
22. Anderson JT, Cowan J, Condino-Neto A, Levy D, Prusty S. Health-related quality of life in primary immunodeficiencies: Impact of delayed diagnosis and treatment burden. Clin Immunol. 2022;236:108931.
23. Moin M, Aghamohammadi A, Kouhi A, Tavassoli S, Rezaei N, Ghaffari S-R, et al. Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. Pediatr Neurol. 2007;37(1):21-8.
24. Devaney R, Pasalodos S, Suri M, Bush A, Bhatt JM. Ataxia telangiectasia: presentation and diagnostic delay. Arch Dis Child. 2017;102(4):328-30.
| Files | ||
| Issue | Vol 8, No 3 (2025) | |
| Section | Original Article | |
| DOI | https://doi.org/10.18502/igj.v8i3.18209 | |
| Keywords | ||
| Ataxia Telangiectasia Epidemiology Immunodeficiency Consanguinity | ||
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