RGD Reference Report - Effect of prothrombotic mutations on factor consumption in children with hemophilia. - Rat Genome Database

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Effect of prothrombotic mutations on factor consumption in children with hemophilia.

Authors: Tuten, H  Cam, H  Ozdemir, N  Bezgal, F  Buyru, N  Zulfikar, B  Celkan, T 
Citation: Tuten H, etal., Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
RGD ID: 10449409
Pubmed: PMID:22411997   (View Abstract at PubMed)
DOI: DOI:10.1177/1076029612438610   (Journal Full-text)

INTRODUCTION: In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected. AIM: The aim of this study is to evaluate the impact of prothrombotic mutations on annual factor consumption in children with hemophilia. METHODS: Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate-severe hemophilia A (n = 51) and controls (n = 25). RESULTS: None of the cases and controls carried the FVL and PT G20210A in homozygous state. There was no difference in factor consumption between carriers of FVL, PT mutations, and noncarriers. Patients who were homozygous for MTHFR C677T were found to have increased factor consumption compared to noncarriers, and this was a negative association. No decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation. CONCLUSION: We could not demonstrate a significant decrease in factor concentrate consumption in children with hemophilia having prothrombotic mutations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
factor VIII deficiency no_associationIAGP 10449409DNA:SNP: :1298A>C (human)RGD 
factor VIII deficiency severityIAGP 10449409DNA:SNP: :677C>T (human)RGD 
factor VIII deficiency no_associationISOMTHFR (Homo sapiens)10449409; 10449409DNA:SNP: :1298A>C (human)RGD 
factor VIII deficiency severityISOMTHFR (Homo sapiens)10449409; 10449409DNA:SNP: :677C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information