Hereditary hemochromatosis

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What is hereditary haemochromatosis?

What is hereditary haemochromatosis?

Hereditary haemochromatosis (HH) is an inherited disease, whereby the patients experience abnormal iron metabolism processes. Symptoms respond well to treatment if the disease is correctly diagnosed in time. If the disease is not treated, it can result in severe damage to various organs.

The human body absorbs the required amount of iron from diet, and if the level of iron is sufficient, there are self-regulation mechanisms to limit any further absorption of the iron. Meanwhile, HH causes the body to accumulate excess iron because these regulatory mechanisms are disrupted.

Over time, excess iron accretes in the cells of the liver, heart, pancreas, joints, and other cells, which can lead to serious damage to these organs. For example, liver cirrhosis, liver cancer, diabetes, heart disease etc.

Molecular diagnostics of the HFE gene help to detect up to 90% of cases. This method does not answer the symptomatic questions — whether and how much excess iron has accumulated, as well as the severity of possible tissue damage.

The main goal of the test is to detect the disease, in order to begin timely treatment and avoid severe joint, liver, heart, and other organ damage.

Test description

1996. gadā tika atklāts gēns HFE, kas atbild par pārmantotās HH iespējamību. Visbiežāk HH iemesls ir divas mutācijas HFE gēnā. Ja bērns no vecākiem mantojis abas kopijas bojātā gēna, tas nozīmē, ka dzīves laikā viņam attīstīsies HH. Savukārt cilvēki, kas manto tikai vienu izmainīto gēna kopiju (nēsātāji), paši ar HH nesaslimst, toties var šo bojāto gēna kopiju nodot tālāk saviem bērniem. Ja abi vecāki ir tikai HH nesēji, tad ir 25% iespējamība, ka viņu bērni saņems abas mainītās gēnu kopijas un attiecīgi ar lielu iespējamību var sirgt ar HH dzīves laikā. Dažādās populācijās HH sastopamības biežums ir vidēji 0,3% iedzīvotāju.

Haemochromatosis treatment

Haemochromatosis is one of the genetic diseases that can be treated easily and effectively. Iron levels are kept normal with a painless and relatively inexpensive procedure: regular bloodletting. Initially, patients need it more often until normal blood iron levels are reached. Long-term, given medical supervision, blood removal procedures are prescribed only when necessary to maintain normal iron levels.

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With a doctor’s referral (for a complete list, see the “Prices”) section) medical DNA tests (except for the prenatal NIPT “Panorama” test for pregnant women) are paid for by the NHS. Important! The NHS only pays for the test if the referral is issued as part of an NHS-paid visit, and the doctor has a contract with the NHS. Referrals issued during a paid visit will not be valid. Quotas are available.

 

The sample for DNA testing can be submitted at any branch of our partner - Centrālajā laboratorijā.

 

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