Chromosomal Breakage in Fanconi Anemia and Consanguineous Marriages: A Social Dilemma for Developing Countries

Abstract

Introduction A clear picture of the prevalence of Fanconi anemia is not known due to limited studies and research of the subject. This study will detect the frequency of positive chromosomal breakage in pediatric aplastic patients and provide the evidence-based guidelines which help in consideration of appropriate treatment and awareness to the society. Methods A total of 104 aplastic anemia patients were recruited of age <18 years whose samples were tested for chromosomal breakage with mitomycin C (MMC). History of consanguinity between parents were documented for all the patients referred to us. Result Out of 104 diagnosed aplastic anemia patients, 35 (33.7%) patients were found to be Fanconi positive. Mean age of all hypoplastic patients for aplastic anemia and Fanconi anemia was 10.7 ± 4.5 and 10.6 ± 3.5, respectively. Male preponderance was found to be higher (64, 61.5%) as compared to females (40, 38.5%) in aplastic patients. The male to female ratio was observed as 2.5:1 in Fanconi patients while 1.3:1 in non-Fanconi aplastic patients. Parental consanguinity was observed in 33 (94.2%) with Fanconi anemia. Conclusion Fanconi anemia accounts for significant number of patients with hypoplastic bone marrow, therefore consanguineous marriages should be avoided through mass education in Pakistan.

Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort

“…The prevalence of FA in the present study was found to be high (50.5%) in total aplastic anemia patients which was in line with a previous Egyptian study reporting 34 FA out of 48 congenital aplastic anemia patients with a ratio of 70.8% (Temtamy et al, 2007). This was in contrast to other studies which reported 33.7%, 16.6% and 13.1% (Oostra et al, 2012;Chowdhry et al, 2014;Siddiqui et al, 2020) respectively. This data may reveal the high incidence of Fanconi anemia in our population compared to other ethnic groups, who were subjected to the same analysis.…”

“…The mean age group of non-FA anemia (group 1) and FA patients (group 2) was in accordance with other reports from the literature where most patients fall under the same age group (Tipping et al, 2001;Issaragrisil et al, 2006;Alter Giri, 2016;Siddiqui et al, 2020;Thompson et al, 2021).…”

Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group

“…The present patient was a product of a consanguineous marriage (three generations). Consanguinity is a practice in several tribes in Saudi Arabia and other countries, resulting in disease in the offspring of carrier families (35,36). WES is a diagnostic tool to identify molecular defects in patients with suspected genetic disorders (37)(38)(39).…”