{"id":568,"date":"2026-08-11T19:53:18","date_gmt":"2026-08-11T19:53:18","guid":{"rendered":"https:\/\/syrian-biomedica.com\/ibrahim-alkhatib\/"},"modified":"2026-08-12T18:07:18","modified_gmt":"2026-08-12T18:07:18","slug":"ibrahim-alkhatib","status":"publish","type":"page","link":"https:\/\/syrian-biomedica.com\/ar\/ibrahim-alkhatib\/","title":{"rendered":"Ibrahim Alkhatib"},"content":{"rendered":"<h1><strong>Ibrahim Alkhatib<\/strong><\/h1>\n<div>\n<p><strong>A Retrospective Laboratory-Based Study of Familial Mediterranean Fever<\/strong><\/p>\n<\/div>\n<div>\n<p><strong><u>Background<\/u>:<\/strong><\/p>\n<p>Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder caused by MEFV variants, with marked geographic variation in mutation patterns. Syrian molecular data remain limited, and the significance of non-exon 10 variants, particularly E148Q, remains controversial.<\/p>\n<\/p>\n<p><strong><u>Methods<\/u>:<\/strong><\/p>\n<p>We conducted a retrospective, descriptive, laboratory-based study using records from a private reference laboratory in Damascus, Syria, receiving samples nationwide. Between 2018 and 2025, 6,067 individuals underwent targeted 24-variant MEFV testing by multiplex real-time PCR. The analytic cohort included those with at least one detected variant. Genetic status was classified as monoallelic or biallelic\/multiallelic. Available same-day laboratory data were summarized descriptively.<\/p>\n<\/p>\n<p><strong><u>Results<\/u>:<\/strong><\/p>\n<p>Among 6,067 individuals tested, 2,595 (42.8%) had at least one MEFV variant; 52.5% were female, and mean age was 24.75 \u00b1 11.24 years. Overall, 57.3% were monoallelic and 42.7% were biallelic\/multiallelic. Heterozygous genotypes predominated (57.3%), followed by compound\/multiple (24.7%) and homozygous (18.1%) profiles. In allele-based analysis (2N = 5,190), the most frequent mutant alleles were M694V (24.07%), E148Q (18.63%), and V726A (12.54%). E148Q appeared in both isolated and exon 10\u2013associated contexts. Inflammatory markers were descriptively higher in the biallelic\/multiallelic group.<\/p>\n<\/p>\n<p><strong><u>Conclusions<\/u>:<\/strong><\/p>\n<p>This large Syrian cohort shows an MEFV variant spectrum centered on M694V, with substantial contributions from E148Q and V726A. The frequent but heterogeneous occurrence of E148Q supports cautious, exon-aware interpretation.<\/p>\n<\/div>\n<p><!--more--><br \/>\n<!-- {\"type\":\"layout\",\"children\":[{\"name\":\"Terms\",\"type\":\"section\",\"props\":{\"image_position\":\"center-center\",\"style\":\"default\",\"title_breakpoint\":\"xl\",\"title_position\":\"top-left\",\"title_rotation\":\"left\",\"vertical_align\":\"\",\"width\":\"small\"},\"children\":[{\"type\":\"row\",\"children\":[{\"type\":\"column\",\"props\":{\"image_position\":\"center-center\",\"position_sticky_breakpoint\":\"m\",\"width_medium\":\"1-1\"},\"children\":[{\"type\":\"headline\",\"props\":{\"content\":\"<strong>Ibrahim Alkhatib<\\\/strong>\",\"image_align\":\"left\",\"image_margin\":\"xsmall\",\"margin_top\":\"remove\",\"title_element\":\"h1\",\"title_style\":\"heading-medium\"}},{\"type\":\"headline\",\"props\":{\"content\":\"\n\n<p><strong>A Retrospective Laboratory-Based Study of Familial Mediterranean Fever<\\\/strong><\\\/p>\",\"image_align\":\"left\",\"image_margin\":\"xsmall\",\"margin_bottom\":\"remove\",\"title_color\":\"muted\",\"title_element\":\"div\",\"title_style\":\"h4\"}},{\"type\":\"text\",\"props\":{\"column_breakpoint\":\"m\",\"content\":\"\n\n<p><strong><u>Background<\\\/u>:<\\\/strong><\\\/p>\\n\n\n<p>Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder caused by MEFV variants, with marked geographic variation in mutation patterns. Syrian molecular data remain limited, and the significance of non-exon 10 variants, particularly E148Q, remains controversial.<\\\/p>\\n\n\n<p><\\\/p>\\n\n\n<p><strong><u>Methods<\\\/u>:<\\\/strong><\\\/p>\\n\n\n<p>We conducted a retrospective, descriptive, laboratory-based study using records from a private reference laboratory in Damascus, Syria, receiving samples nationwide. Between 2018 and 2025, 6,067 individuals underwent targeted 24-variant MEFV testing by multiplex real-time PCR. The analytic cohort included those with at least one detected variant. Genetic status was classified as monoallelic or biallelic\\\/multiallelic. Available same-day laboratory data were summarized descriptively.<\\\/p>\\n\n\n<p><\\\/p>\\n\n\n<p><strong><u>Results<\\\/u>:<\\\/strong><\\\/p>\\n\n\n<p>Among 6,067 individuals tested, 2,595 (42.8%) had at least one MEFV variant; 52.5% were female, and mean age was 24.75 \\u00b1 11.24 years. Overall, 57.3% were monoallelic and 42.7% were biallelic\\\/multiallelic. Heterozygous genotypes predominated (57.3%), followed by compound\\\/multiple (24.7%) and homozygous (18.1%) profiles. In allele-based analysis (2N = 5,190), the most frequent mutant alleles were M694V (24.07%), E148Q (18.63%), and V726A (12.54%). E148Q appeared in both isolated and exon 10\\u2013associated contexts. Inflammatory markers were descriptively higher in the biallelic\\\/multiallelic group.<\\\/p>\\n\n\n<p><\\\/p>\\n\n\n<p><strong><u>Conclusions<\\\/u>:<\\\/strong><\\\/p>\\n\n\n<p>This large Syrian cohort shows an MEFV variant spectrum centered on M694V, with substantial contributions from E148Q and V726A. The frequent but heterogeneous occurrence of E148Q supports cautious, exon-aware interpretation.<\\\/p>\",\"margin\":\"default\"}}]}]}]}],\"version\":\"4.5.32\"} --><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ibrahim Alkhatib A Retrospective Laboratory-Based Study of Familial Mediterranean Fever Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder caused by MEFV variants, with marked geographic variation in mutation patterns. Syrian molecular data remain limited, and the significance of non-exon 10 variants, particularly E148Q, remains controversial. Methods: We conducted a retrospective, descriptive, laboratory-based study [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":"","_et_pb_custom_css":""},"class_list":["post-568","page","type-page","status-publish","hentry"],"_et_pb_custom_css":"","_links":{"self":[{"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/pages\/568","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/comments?post=568"}],"version-history":[{"count":2,"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/pages\/568\/revisions"}],"predecessor-version":[{"id":592,"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/pages\/568\/revisions\/592"}],"wp:attachment":[{"href":"https:\/\/syrian-biomedica.com\/ar\/wp-json\/wp\/v2\/media?parent=568"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}