Genetic diseases and associated risk factors in some Libyan districts: A cross sectional study

Abstract

Genetic disorders are caused by defects in the genetic material ranging from point mutations to chromosomal deletions. Manifesting of recessive defects requires the mutation inheritance from both parents, whereas dominant disorders require the mutation inheritance from one parent. This study aimed to investigate the rate of genetic disorders among Libyan participants with genetic disorders, to investigate their most causative risk factors and the level of awareness of these diseases. This cross sectional study was carried out through a questionnaire with a set of questions about genetic diseases distributed both on paper and electronically. 256 participants have generic disorders from different regions of Libya were involved. The participant's answers were collected from July 2021 to February 2022. The findings showed that the most prevalent genetic diseases were blood disorders 13.7%, CI=13.3-15.4), Down syndrome (13.3%, CI=9.5-17.4), autoimmune diseases (12.1%, CI=8.2-16.0), hereditary cancer (9.0%, CI=5.1-12.9) and congenital malformations (7.4%, CI= 4.1-10.9). The results showed that consanguineous marriage was a risk factor associated with the incidence of genetic diseases (P= 0.000, CI= 3.34-3.48) and there was a high rate of second-degree consanguineous marriage for the parents of participant patients (55.0%, n=141). Moreover, there was a family history of genetic disease (53.5%). The findings showed a lack of awareness of genetic diseases and their nature among the participants’ families. Data from this survey should be taken into account by the health authorities to outline a policy to prevent these genetic disorders in the country