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Hereditary hemochromatosis: a case study and review.

R J Laudicina, Vicky A. LeGrys

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Abstract

Hereditary hemochromatosis (HH) is a disorder of iron regulation that leads to excessive iron absorption. Over time, the resultant iron overload and deposition in tissue leads to various chronic diseases and premature death. Even though it is the most common genetic disorder among Caucasians in the U.S., hereditary hemochromatosis often goes undetected or unrecognized by healthcare providers. Laboratory tests provide effective, inexpensive means of screening for and confirming hereditary hemochromatosis. The clinical laboratory also plays a key role in hereditary hemochromatosis treatment, reduction of iron stores through therapeutic phlebotomy.

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What this paper is about

Hereditary hemochromatosis (HH) is a disorder of iron regulation that leads to excessive iron absorption. Over time, the resultant iron overload and deposition in tissue leads to various chronic diseases and premature death. Even though it is the most common genetic disorder among Caucasians in the U.S., hereditary hemochromatosis often goes undetected or unrecognized by healthcare providers. Laboratory tests provide effective, inexpensive means of screening for and confirming hereditary hemochromatosis. The clinical laboratory also plays a key role in hereditary hemochromatosis treatment, reduction of iron stores through therapeutic phlebotomy.

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OpenAlex reports 5 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

Hereditary hemochromatosis (HH) is a disorder of iron regulation that leads to excessive iron absorption. Over time, the resultant iron overload and deposition in tissue leads to various chronic diseases and premature death. Even though it is the most common genetic disorder among Caucasians in the U.S., hereditary hemochromatosis often goes undetected or unrecognized by healthcare providers. Laboratory tests provide effective, inexpensive means of screening for and confirming hereditary hemochromatosis. The clinical laboratory also plays a key role in hereditary hemochromatosis treatment, reduction of iron stores through therapeutic phlebotomy.

Key concepts: Hemochromatosis, Hereditary hemochromatosis, Phlebotomy, Medicine, Genetic disorder, Iron deficiency, Pediatrics, Genetic testing

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