Establishing the First National Fanconi Anemia Registry in Iran: Clinical and Epidemiological Insights From 116 Patients

Abstract

BACKGROUND: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. Iran, with a high rate of consanguineous marriage and considerable ethnic diversity, represents a high-risk context for FA. We established the Iranian Fanconi Anemia Registry (IRFAR) to provide the first registry-based description of FA in Iran. PROCEDURE: IRFAR is a prospective national registry established in April 2021 at Tehran University of Medical Sciences (ethics code: IR.TUMS.MEDICINE.REC.1400.146). Diagnosis required chromosomal breakage testing and/or molecular confirmation, reviewed by at least two board-certified pediatric hematologist-oncologists. Data were collected using a structured questionnaire covering demographic, perinatal, clinical, hematologic, and genetic domains. RESULTS: A total of 116 patients from 101 families were enrolled. The male-to-female ratio was 1.15:1 and the mean age at diagnosis was 6.1 years (SD 3.08). Parental consanguinity was present in 91.1 of families. Patients originated from 25 of Iran's 31 provinces, with the highest concentrations in Tehran, Fars, Isfahan, and Kerman. Persian (41.4), Azari (25.0), and Lur (14.7) were the predominant ethnic groups. The most frequent congenital findings were skin pigmentation abnormalities (71.6), short stature (55.2), and upper limb anomalies (52.6). Nearly half of the patients had undergone hematopoietic stem cell transplantation (HSCT). Four patients (3.4) had malignancies at enrollment. Molecular data were available in 11 patients, with FANCA as the predominant complementation group (72.7). CONCLUSIONS: IRFAR is the first national FA registry in Iran and among the earliest in the Middle East. The high consanguinity rate and geographic diversity highlight the need for expanded molecular testing, premarital genetic counseling, and multi-center expansion.