Thalassemia is a group of disorders characterized by deficient production of the β-globin sub unit of hemoglobin. Months before admission, the patient noted increased thirst to the point that during the 3 days before admission, he was requiring ten to fifteen 64-oz bottles of a soft drink per day. Levels of serum alkaline phosphatase, total and direct bilirubin, lactic dehydrogenase, total proteins, albumin, serum creatinine, urea electrolytes, and thyroid-stimulating hormone, and the international normalized ratio were within normal limits. Total body iron may rise from the normal 4 or 5 g to as much as 60 g and the stored iron may cause CIRRHOSIS of the liver, DIABETES, IMPOTENCE, HEART FAILURE and bronzing of the skin. In people suffering from haemochromatosis two iron proteins are found to accumulate in larger than normal amounts, haemosiderim and ferritin. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Synonym(s): haemochromatosis.
Three months later, the patient’s ferritin levels had dropped to 750 mg/L, the liver function tests remained unchanged, and no significant change in skin color was noted. In people without haemochromatosis the body only absorbs as much iron as it needs, with the rest being excreted by the body. Even if the pancreas is partially damaged, patients and doctors notice an improvement in insulin production in the pancreas that is left undamaged. Without treatment, the disease can cause these organs to fail, leading to diabetes, cirrhosis, and heart disease. If only small amounts of blood are withdrawn, there are no side effects of treatment. Cardiac examination was unremarkable. The iron that goes to the pancreas ends up damaging the organ.
If both parents are carriers then they both have one copy of the gene. There is a one in four chance of a child having haemochromatosis, two chances in four that they will be carriers and one chance in four that they will neither have haemochromatosis nor be a carrier. If one parent has haemochromatosis (ie: has two copies of the gene) and the other parent is a carrier (ie, has one copy of the gene), the children will have haemochromatosis or be carriers for the condition. If one parent has haemochromatosis (ie, has two copies of the gene) and the other parent does not have a copy of the gene, then all the children will be carriers, but will not have the condition. Despite therapeutic measures he died. Treatment includes a diet limited in carbohydrates and saturated fat, exercise to burn glucose, and regular insulin injections, sometimes administered via a portable insulin pump. A person who inherits the defective gene from only one parent is a carrier for the disease but usually does not develop it.
The normal serum ferritin levels are between 20 – 250 µg/L (micrograms per litre) for an adult male and between 20 – 160 µg/L for an adult female. Haemochromatosis will be suspected if the iron saturation is above 55% and the serum ferritin is above 400 µg/L. The doctor will also take a full medical history, including any family history of haemochromatosis and will discuss current symptoms. The severity of the different types varies considerably, but most commonly MODY acts like a very mild version of type 1 diabetes, with continued partial insulin production and normal insulin sensitivity. Blood tests to assess liver function will be performed. If they are abnormal a liver biopsy may be recommended to check for liver damage. Additionally, x-rays and specialised scans may be necessary to assess whether damage has occurred in other organs.
Once a diagnosis of haemochromatosis has been made, it is usually recommended that close blood relatives (siblings, children, parents) are screened for the condition. Whilst haemochromatosis cannot be prevented, early diagnosis and treatment can prevent the development of symptoms and long term consequences of the condition. Stay away from them! This is done by removing blood in a process similar to blood donation called venesection. Blood is removed at weekly sessions until the ferritin level is below approximately 100 µg/L. After this is achieved, blood is taken as often as necessary to keep ferritin at this level. If organ damage occurred prior to the diagnosis of haemochromatosis, treatments aimed at repairing the damaged organ will be necessary.
If permanent and severe damage has occurred, an organ transplant may be required. For further information and support please contact your doctor or practice nurse. Leukaemia & Blood Cancer New Zealand (LBC) can offer information and support about haemochromatosis. The arthropathy can therefore be an early clue as to the diagnosis of haemochromatosis.