Hemoglobinopathies and Related Disorders

The severe hereditary condition, sickle cell disease (SCD), originates from a specific missense mutation within the gene encoding beta-globin (). This definitive genetic alteration sets off a domino effect of pathophysiology, whose hallmark clinical manifestations include lifelong hemolytic anemia, frequent painful cr…

Objective: Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterised by increased intestinal iron absorption and progressive systemic iron overload.Although the C282Y variant is the predominant cause of HH in Northern European populations, the distribution of HFE variants varies geographic…

Hemolitik Üremik Sendromu (HÜS), mikroanjiyopatik hemolitik anemi, trombositopeni ve akut böbrek hasarının birlikteliği ile karakterize, trombotik mikroanjiyopatiler (TMA) spektrumunda yer alan bir klinik tablodur. Erişkinlerde görülme sıklığı çocukluk çağına göre daha düşüktür; ancak fenotipik çeşitlilik, eşlik eden…

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Background: Iron overload is a major concern in pediatric oncology, especially among patients receiving frequent blood transfusions. Although serum ferritin (SF) is widely used as a surrogate marker, T2* magnetic resonance imaging (MRI) of the liver and heart remains the gold standard for quantifying tissue iron depos…

Aims: Automated erythrocytapheresis (red cell exchange; RCE) is an established therapeutic modality in sickle cell disease (SCD), yet procedural complication data from Turkey and the Eastern Mediterranean region remain limited. This study evaluated the safety profile of RCE in adult SCD patients at a single tertiary c…

The Eurasian Journal of Medical Advances (EJMA) is an open access, double-blind peer-reviewed medical journal publishing qualified research across all medical investigations. The journal is published quarterly in March, June, September and December.

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Objective: Splenomegaly is a frequent clinical finding associated with a wide spectrum of infectious, hematologic, hepatic, and systemic disorders. Despite comprehensive diagnostic evaluation, a subset of adult patients remains without an identifiable etiology, creating uncertainty regarding prognosis and follow-up st…

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Thalassemia remains a major diagnostic challenge because its detection requires the interpretation of multiple laboratory and molecular findings in different stages of care. Current diagnostic approaches are effective in clinical practice, but they are often discussed as separate methods rather than as parts of a conn…

Amaç: Araştırma Samsun Eğitim ve Araştırma Hastanesi Diyaliz Ünitesi’nde hemodiyaliz tedavisi alan hastaların öz bakım gücünün, günlük yaşam aktivitelerine ve egzersiz engellerine etkisini belirlemek amacıyla yapıldı.Yöntem: Kesitsel-tanımlayıcı türde yürütülen araştırma diyaliz ünitesine kayıtlı, araştırmaya katılmay…