Primary Hereditary Haemochromatosis and Pregnancy

Abstract

Background. Haemochromatosis is a rare autosomal genetic disease that can cause multiple organ failure. In the past, this condition was not considered to affect pregnancy. The objectives of this study are to update the management of haemochromatosis in general as there are new treatments being investigated other than phlebotomy and to summarise the effects of the condition on pregnancy and vice versa. Methods. The initial search was in Ovid Medline® from 2002 to 2013. Review articles for haemochromatosis and case reports of its related complications in pregnancy were found. None of the reviews addressed pregnancy in detail. A second search in PubMed from 2014 to 2016 included studies regarding haemochromatosis and pregnancy and iron metabolism association with other metals and biomarkers, defining the mechanism of foetomaternal risks in maternal haemochromatosis. A third search at PubMed from 2017 to 2022 using key words haemochromatosis and pregnancy was done to look at the new data. Results. The results are qualitative indicating that even in the absence of abnormal iron parameters, haemochromatosis increases the risk of foetomaternal complications due to genetic predisposition, necessitating antenatal monitoring. Newer medications targeting the pathophysiology of the disease to eliminate it are being developed. The coabsorption of lead with iron causes increased risk of maternal preeclampsia, gestational hypertension, foetal congenital abnormalities, and growth problems. There is risk of neurodevelopmental delays, large for gestational age and childhood leukaemia in babies whose mothers and themselves have mutations for haemochromatosis. Conclusion. Previously, women with haemochromatosis were thought to have no higher risk of complications than the general population. However, there is evidence of foetomaternal complications. As a result, pregnancy with haemochromatosis necessitates additional monitoring for both mother and baby.