TY - JOUR
T1 - Diagnosis and Management of Genetic Iron Overload Disorders
AU - Palmer, William C.
AU - Vishnu, Prakash
AU - Sanchez, William
AU - Aqel, Bashar
AU - Riegert-Johnson, Doug
AU - Seaman, Leigh Ann Kenda
AU - Bowman, Andrew W.
AU - Rivera, Candido E.
N1 - Publisher Copyright:
© 2018, Society of General Internal Medicine.
PY - 2018/12/1
Y1 - 2018/12/1
N2 - Iron overload disorders lead to excess iron deposition in the body, which can occur as a result of genetic or secondary causes. Genetic iron overload, referred to as hereditary hemochromatosis, may present as a common autosomal recessive mutation or as one of several uncommon mutations. Secondary iron overload may result from frequent blood transfusions, exogenous iron intake, or certain hematological diseases such as dyserythropoietic syndrome or chronic hemolytic anemia. Iron overload may be asymptomatic, or may present with significant diseases of the liver, heart, endocrine glands, joints, or other organs. If treated appropriately prior to end-organ damage, life expectancy has been shown to be similar compared to matched populations. Alongside clinical assessment, diagnostic studies involve blood tests, imaging, and in some cases liver biopsy. The mainstay of therapy is periodic phlebotomy, although oral chelation is an option for selected patients.
AB - Iron overload disorders lead to excess iron deposition in the body, which can occur as a result of genetic or secondary causes. Genetic iron overload, referred to as hereditary hemochromatosis, may present as a common autosomal recessive mutation or as one of several uncommon mutations. Secondary iron overload may result from frequent blood transfusions, exogenous iron intake, or certain hematological diseases such as dyserythropoietic syndrome or chronic hemolytic anemia. Iron overload may be asymptomatic, or may present with significant diseases of the liver, heart, endocrine glands, joints, or other organs. If treated appropriately prior to end-organ damage, life expectancy has been shown to be similar compared to matched populations. Alongside clinical assessment, diagnostic studies involve blood tests, imaging, and in some cases liver biopsy. The mainstay of therapy is periodic phlebotomy, although oral chelation is an option for selected patients.
KW - hemochromatosis
KW - iron overload
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U2 - 10.1007/s11606-018-4669-2
DO - 10.1007/s11606-018-4669-2
M3 - Review article
C2 - 30225768
AN - SCOPUS:85053623313
SN - 0884-8734
VL - 33
SP - 2230
EP - 2236
JO - Journal of general internal medicine
JF - Journal of general internal medicine
IS - 12
ER -