ANALISIS POLIMORFISME GEN FERROPORTIN (FPN1) Q248H DAN PROMOTER FPN1 -1355G/C PADA IBU HAMIL DENGAN ANEMIA DEFISIENSI BESI

• Main Authors: , NOR ISTIQOMAH, , dr. Ahmad Hamim Sadewa
• Format: Theses and Dissertations NonPeerReviewed
• Published: [Yogyakarta] : Universitas Gadjah Mada 2013
• Subjects: ETD
• Online Access: https://repository.ugm.ac.id/119207/; http://etd.ugm.ac.id/index.php?mod=penelitian_detail&sub=PenelitianDetail&act=view&typ=html&buku_id=59203
• Institution: Universitas Gadjah Mada

Background. Iron deficiency anemia in pregnancy remains an important health problem in Indonesia despite increase number of health promotion and services. Ferroportin (FPN1) is one of important gene in iron metabolism encodes ferroportin for iron absorption, release, and recycle inside the body. Several polymorphisms in this gene affect its function and expression. The polymorphism of FPN1 Q248H alters negative charge of the amino acid sequence positively, hence influenced its ubiquitination and degradation. The other varian, FPN1 - 1355G/C in promoter region, leads to increased of ferroportin expression and iron export, increased cellular iron needs, overexpression of sTfR, decrease Hb and erythrocyte indices that manifest to iron deficiency anemia. This research will study the frequency of ferroportin Q248H and -1355G/C polymorphism as a risk factor of iron deficiency anemia in pregnant women in Indonesia. Methods. The research design was a case and control study. Blood samples were taken from 26 pregnant women with anemia and 48 pregnant women without anemia. FPN1 Q248H and -1355G/C polymorphism were determined using PCR- RFLP method. Soluble transferrin receptor (sTfR) and hepcidin level were measured with ELISA. Haemoglobin, erythrocyte indices, sTfR, and hepcidin level were compared among genotype group, then statistically analyzed using independent sample t test and one way ANOVA. A p<0.05 was considered as significant. Results. There was no varian in FPN1 Q248H. However, we found FPN1 -1355G/C polymorphism with frequency in pregnant women with IDA and in pregnant women with anemia non IDA were 100% and 95.2%, respectively (OR=1.600 p=0.710 95%CI 0.296-8.653). The mean of Hb level and erythrocyte indices in subjects carrying C allele were lower than subjects carrying only G allele although Hb level is not significantly different (p>0.05). The sTfR and hepcidin level in subjects carrying C allele were higher than subjects carrying only G allele (p<0.05) although hepcidin level is not significantly different (p>0.05). Conclusions. In this study the FPN1 gene promoter -1355G/C polymorphism was a risk factor for iron deficiency anemia in pregnant women.