… deficiency or iron overload and their clinical consequences. This review describes several
rare iron loading conditions caused by genetic defects in some of the proteins involved in iron …

… Aside from malnutrition and blood loss, there are also rare genetic conditions that cause
iron deficiency. Mutations in the serine protease TMPRSS6 (transmembrane protease serine 6, …

… Once established, cirrhosis is irreversible with phlebotomy, although rare causes of
regression have been reported.123 Studies have also shown increased fibrosis and cirrhosis in …

… [44] DBA is a rare congenital disorder caused by ribosomal protein mutations that lead to
macrocytic anemia, with over 80% of patients presenting within 6 months of age.[45] Patients …

… Iron overload from parenteral administration of iron compounds is rare and is the result of
inaccurate determination of body iron … In some cases the specific cause of iron overload has …

… inherited iron metabolism defects can lead to iron overload, iron … defects causing systemic
iron overload. Local inherited … will likely extend our knowledge identifying new rare diseases …

… There are a number of other rare causes of refractory hypochromic … Iron-chelating Agents.
Until recently there was no specific therapy for acute iron poisoning, or chronic iron overload. …

… JH is a rare autosomal recessive disorder resulting in iron overload affecting both sexes at
a young age, usually in the second and third decades of life. The clinical course is rapid and …

… Iron overload and related clinical complications develop in the late teens to early twenties.
The disease is rare and most affected families were documented in Greece, Southern Italy, …

… of rare human diseases manifest severe mitochondrial iron … the SLC25 superfamily, causes
iron overload, but its substrate … exchanger, also cause mitochondrial iron overload. Other …