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Genetic Haemochromatosis

Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron absorption leading to iron overload, primarily caused by the C282Y mutation in the HFE gene. The classic symptoms include cirrhosis, type II diabetes, and skin hyperpigmentation. Diagnosis involves transferrin saturation and serum ferritin tests, with management focusing on regular phlebotomy to reduce iron levels and dietary recommendations.

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Ishita Mandal
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20 views2 pages

Genetic Haemochromatosis

Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron absorption leading to iron overload, primarily caused by the C282Y mutation in the HFE gene. The classic symptoms include cirrhosis, type II diabetes, and skin hyperpigmentation. Diagnosis involves transferrin saturation and serum ferritin tests, with management focusing on regular phlebotomy to reduce iron levels and dietary recommendations.

Uploaded by

Ishita Mandal
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Hereditary Hemochromatosis

Hemochromatosis is a Disorder of iron overload:

– Hereditary hemochromatosis (HH)

– Acquired hemochromatosis

HH: genetic defect in iron metabolism

– Excess iron absorbed from the gut

– Symptoms due to pathologic deposition of iron in body tissue =


iron overload

Symptoms

 Classic Triad:

– Cirrhosis (hepatic damage)

– Diabetes (type II) (pancreatic damage)

– Bronzing of skin (hyperpigmentation)

The Genetics of Hemochromatosis

 HFE– associated Hemochromatosis accounts for > 90% of cases and is


the most common adult onset form:

 Autosomal recessive inheritance

 C282Y mutation

– Carrier rate 1 in 7 - 10 Caucasians

– Incidence 1 in 200 - 400


Diagnostic testing for HH

 Transferrin saturation:

 Serum ferritin - levels indicating significant iron accumulation:

 Liver biopsy if ferritin >1000 to assess damage

Consider genetic testing – DNA testing for common mutations (C282Y,


H63D)

Medical Management

 The goal - detect patients before symptoms of iron overload.

 Phlebotomy weekly or biweekly

 Check ferritin every ~10 phlebotomies

 Stop frequent phlebotomy when ferritin 25-50mcg/L

 Maintenance phlebotomy every 3-4 months

 Dietary recommendations

 Consider hematology or GI consult for confirmed cases to guide


treatment and monitoring

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