Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients

• Published in: Turkish journal of haematology Vol. 33; no. 4; pp. 320 - 325
• Main Authors: Terzi, Yunus Kasım, Bulakbaşı Balcı, Tuğçe, Boğa, Can, Koç, Zafer, Yılmaz Çelik, Zerrin, Özdoğu, Hakan, Karakuş, Sema, İffet Şahin, Feride
• Format: Journal Article
• Language: English
• Published: Turkey Galenos Publishing 01.12.2016; Galenos Publishing House
• Subjects: Adult; Alleles; Amino Acid Substitution; Anemia, Sickle Cell - complications; Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - genetics; Biomarkers; Codon; Cross-Sectional Studies; DNA Mutational Analysis; Female; Gene Frequency; Genotype; hemochromatosis; Hemochromatosis Protein - genetics; Hemoglobin, Sickle - genetics; hfe gene; Homozygote; Humans; iron overload; Iron Overload - diagnosis; Iron Overload - etiology; Liver - metabolism; Liver - pathology; Magnetic Resonance Imaging; Male; Mutation; p.c282y; p.h63d; Prospective Studies; sickle cell anemia; Young Adult

Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this diseas...