Sunday, 16 December 2012

More symptoms now coming to light

HH/GH    Hereditary or Genetic Hemochromatosis – Iron Overload

What it is

Hereditary Hemochromatosis A surprisingly common, yet virtually unknown genetic disorder. Potentially fatal, easily detected and even though as yet not curable, it is treatable, even life saving if found and treated long before the devastating consequences begin.
HH is fast becoming one of the worlds’ most common though obscure, undetected disorders, affecting hundreds of thousands of people around the world, affecting both men and women. It is a crippling, debilitating and potentially fatal condition caused by a defective gene mutation which affects the way our liver’s metabolic process works. Iron is toxic and therefore can be fatal.
Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption, allowing toxic iron deposition in the liver, pancreas, heart, joints, and pituitary gland. Without treatment, death can occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy and other heart conditions.
It is also now coming to light that HH is a contributory factor, possibly even a cause of many other serious illnesses, including some of the following:

How it affects us:
  Debilitating chronic fatigue and weakness
  Joint pain. (especially fingers/hands, knees and hips)
  Liver cirrhosis and cancer.
  Pancreatic Cancer.

  Type 2 diabetes
   Cardiomyopathy and other heart complications
  Hemosiderosis. A rare condition in which too much iron is present in certain organs, most commonly in the lungs
   Hepatocellular carcinoma has been reported to account for 30–45 percent of deaths among the HHC patients according to reports from the American Oxford Journals 2001 (
  Bronchitis and Pneumonia
   Mood swings impaired memory, irritability, depression
  Skin becomes thin.
  Hair thinning and loss, both on hrad and body.
  Abnormal pigmentation of the skin, making it look gray or bronze
  Gall bladder problems
  Reduced sex drive, early menopause and Impotence in men.
  Viral infections esp, affecting the mouth with ulcers
   Eyesight problems
  There are recent indications that there is possibly a link to HH and Sjogens syndrome

    Promote information on HH and advise on tests available to ensure prevention before onset of complications
    Assist in making GP’s more aware of the need for testing, both serum ferritin levels and HH genetic testing
    Warn people through the media to STOP promoting vitamin supplements, especially Iron and Vitamin C for people presenting similar symptoms as in anaemia.
    Encourage more research into the genes responsible for HH *(genome research in cancer patients due to commence soon?).
    Encourage the government to test for the HH gene in new-borns.

·         Encourage the NHS to highlight preventative measures for those with associated symptoms and those who have already been diagnosed with HH as the complications will undoubtedly be much more costly.

Tuesday, 20 November 2012

Explanation of Hemochromatosis Genetics

What is the difference between homozygous and heterozygous?

Humans contain two copies of each gene, one from the father and one from the mother. If a mutation occurs in just one copy of the gene then that individual is considered heterozygous. On the other hand if both copies of a gene are mutated then that individual is homozygous genotype.

Majority of hereditary disorders are harmful if both copies of a gene are affected, which means protein products from both genes may fail to operate properly
In heterozygous genotypes one copy of the gene is healthy and can produce fine proteins thus these individuals are usually not affected and are considered just carriers. However in a few hereditary disorders heterozygous individuals may suffer from a milder version of the disease.
Homozygous vs Heterozygous
If we assign a letter such as B to a dominant genetic or hereditary trait then b will be a defective part:
If homozygous genotypes are represented by BB (normal) and bb (affected) and heterozygous genotypes are represented by Bb (carrier genotype)
Below are examples and probabilities of children born to parents with different genotypes:
The Parents **** BB x BB **** Presents Two healthy parents
Their Children**** 100% BB**** Presents All children will be normal

The Parents BB x Bb – Presents One healthy and one carrier parent
Their Children 50% BB - 50% Bb Presents Children could be half normal and half carrier

The Parents Bb x Bb - Two carrier parents
Their Children 25% BB, 50% Bb, 25%bb – Presents 25% of children could be normal, half carrier, and another 25% could be affected (mutant)
The Parents ***BB x bb*** One healthy and one affected parent
Their Children*** 100% Bb*** All children will be carriers

The Parents ***bb x bb ***Two affected parents
Their Children***100% bb ***All children will be affected mutants

Below is a diagram which may make it clearer