Alpha thalassemia in a symptomatic carrier of familial mediterranean fever

Alfa talasemi ve Ailevi Akdeniz Ateşi (Familial Mediterranean Fever, FMF) aynı coğrafik bölgede yerleşik toplumları etkileyen ve genetik lokalizasyonu örtüşen iki hastalıktır. Alfa talasemiye yol açan delesyonların komşu yerleşimli FMF genini (MEFV) etkileme ve tek gen mutasyonlu FMF taşıyıcılarında klinik semptomlara yol açma potansiyeli vardır. Bu yazıda, bu hipotezi destekler şekilde, alfa talasemi taşıyıcılığı bulunan ve semptomatik olan bir FMF taşıyıcısı olgu sunulmaktadır. Bu yazı bilim dünyasını uzun zamandır meşgul eden tek gen mutasyonuyla FMF semptomları nasıl gelişebilir? sorusuna verilecek yanıtlardan biri olabilir.

Semptomatik ailevi akdeniz ateşi taşıyıcısı bir olguda alfa talasemi

Alpha thalassemia and Familial Mediterranean Fever (FMF) are two diseasesthat affect the same societies native to the Mediterranean basin and haveoverlapping genetic localizations. Deletions resulting in alpha thalassemiahave the potential to affect the neighboring MEFV gene (MEFV) and to leadto symptoms in FMF carriers. We herein present a symptomatic FMF carrierwith coexistence of these two genetic diseases. This report may provide asimple explanation for an age-old mystery of how FMF can occur with asingle mutation.

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