Haemochromatosis is characterized by excess iron in the body. Just like lack of iron can cause anemia, excessive levels of iron in the blood are toxic. The effects are damaging since the iron mineral starts building up in the tissue. In many cases, Hemochromatosis is caused due to an inherited abnormality that causes the body to increase absorption of iron from the intestine. This condition is called primary Hemochromatosis. Secondary Hemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released.
Causes : Hereditary Hemochromatosis is an autosomal recessive condition. This Hemochromatosis which is known as iron overload, bronze diabetes, hereditary Hemochromatosis and familial Hemochromatosis. Hemochromatosis afflicts nearly 1.5 million people in the United States and it is one of the most common genetic disorders in the US. Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. Since all of us have 2 copies of each gene, these individuals have an abnormal HFE gene and a normal gene. Thus they are called as carriers. Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. The culprit gene is on chromosome 6, known as HFE.
As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. But the chances of the person to develop symptoms depends on which gene mutation s/he has in addition to environmental factors. The 2 most common changes in the HFE gene are C282Y and H63D. To complicate things further, the age at which symptoms show up vary widely even within the same family.
Idiopathic Pulmonary Hemosiderosis (IPH), a disorder affecting largely children and young adults, is a similar disorder owing to abnormal accumulation of hemosiderin. Hemosiderin is a protein found in most tissues, but primarily in the liver. It is produced by digestion of hematin, an iron related substance.
Although it affects both sexes in equal proportion, women suffer later in their lives because of the blood loss in menstruation and child birth in their younger ages. This iron dose overload usually affects people in the age group of 30 - 60 years. It is essential to treat this condition lest it lead to heart failure or cirrhosis of the liver. 5% of cirrhosis cases are caused by hereditary Hemochromatosis.
In Hemochromatosis, as the excess iron is deposited in the liver, pancreas, heart, endocrine glands, skin, joints and intestinal lining, it may result in toxicity of the affected organs. Persons suffering from Hemochromatosis tend to feel fatigue and lethargy. There might be joint pain or arthritis. Men might notice impotence and reduced sex drive. Other symptoms of Hemochromatosis are loss of body hair and darkening of skin. Cirrhosis of the liver might occur due to scarring of liver. This is accompanied by abdominal pain, jaundice and enlargement of the liver and spleen. Haemochromatosis can lead to heart failure or abnormal heart rhythms. The patient may show symptoms similar to heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may occur, like grayness or a tanned/yellow appearance. Idiopathic pulmonary hemosiderosis appears as paleness of the skin. At times, the patient may start spitting of blood from the lungs or bronchial tubes.
Diagnosis: Hemochromatosis is diagnosed through blood tests and liver biopsy. The usual diagnostic methods are genetic blood studies, blood studies of iron, Magnetic Resonance Imaging (MRI), and liver biopsy. Blood studies of transferrin iron saturation and ferritin (a protein that transports iron and liver enzymes) concentration are used to screen for iron overload. Genetic testing is a reliable technique of diagnosis of Hemochromatosis as this method became widely available. Diagnosis of idiopathic pulmonary hemosiderosis begins with blood tests and X-ray studies of the chest area.
Hemochromatosis Treatment: The first option of treatment is therapeutic venesection or phlebotomy ( a process of regular bloodletting, similar to blood donation). Patients may need to undergo these procedures one or two times a week for a year. The frequency of phlebotomy may be reduced subsequently based on the condition of iron build up. For cases of patients who cannot tolerate phlebotomy owing to other medical conditions can be treated with Desferal (Desferrioxamine). Patients suffering from Haemochromatosis must limit the consumption of iron. Some times chelating agents may be prescribed to control the absorption of iron. Excess alcohol consumption must be avoided. Avoid iron supplements and Vitamin C, which aids absorption of iron. Reduction in the intake of supplements containing iron and foods such as uncooked sea food may help manage this condition.
Prevention: Genetic testing might be the most helpful as variable severity has been noted in patients who have 2 C282Y genes compared to patients with 2 H63D genes or one of each. The best screening method may be iron and ferritin studies which are cost effective for the susceptible group of people. At the end of the day, Hemochromatisis is a common, easily and effectively treated condition. The complications arise in diagnosis as the symptoms mimic other medical conditions.
Ferritin Blood Test
The iron storage in the body is estimated by the levels of ferritin present in the blood. Serum ferritin is a protein that carries the iron in the blood. The determination of serum ferritin estimates the amount of iron present in the body. Ferritin is found in higher concentrations in spleen, liver and bone marrow where there is a production of blood cells. The amount of ferritin found in the blood is always lesser than these organs. The predominant concentration is often found in the spleen and bone marrow.
Ferritin estimation is an important diagnostic approach in identifying conditions such as anemia, infections and inflammation. The normal reference range of ferritin is 12 - 300 ng/ml in men and 12-150 ng/ml in women. It is recommended that any values below 60 indicate iron deficiency and requires treatment. Low ferritin levels can occur due to heavy menstrual bleeding, inadequate iron in the diet, gastrointestinal bleeding, colon cancer, hemorrhoids or even psoriasis. A person suffering from an underlying condition associated with anemia experiences symptoms such as dizziness, fatigue, headaches, loss of libido, abdominal pain and also joint pains. The ferritin levels are often high in conditions such as hemochromatosis, hemolytic anemia and sideroblastic anemia. Birth control pill and anti thyroid medicines can alter blood ferritin values. Those recovering from surgery or illness are also likely to have lower values of ferritin in the blood.
Although iron supplements are recommended for pregnant women and patients having low iron concentrations, increased levels of iron may often lead to toxicity. Ferritin is stored in the body especially in organs like liver, spleen and bone marrow to enable the balance of iron composition in the body. In iron deficiency anemia, the iron stored is used in the production of blood cells leading to depletion of ferritin levels in the organs.
Bone Marrow Aspiration
Bone marrow refers to the spongy tissue that is found inside the larger bones such as spine, breast bone, hips, ribs, legs and skull. Marrow has two parts – both solid and liquid. If the solid portion of the bone is sampled, it is called biopsy. Aspiration procedure is used to collect the liquid part of the marrow.
Both the procedures show whether the bone marrow is healthy and making normal amounts of blood cells. This procedure is normally used by doctors to diagnose and monitor blood and marrow diseases, including cancer. In bone marrow aspiration, the doctor uses a needle to draw a sample of the fluid portion. For a biopsy, a larger needle is used to take the sample of the solid part.
Most often bone marrow aspiration and bone biopsy is done at once. Together, they make the bone marrow examination. Although they are different procedures, they offer complementary information about bone marrow cells.
Why is it done?
Bone marrow aspiration and biopsy offer detailed information about the condition of the bone marrow and blood cells. In case the blood tests indicate that cell counts are abnormal, and information is not sufficient about a suspected problem, this is done. The doctor may perform bone marrow exam to diagnose a disease condition involving the bone marrow or blood cells:
Pre bone marrow aspiration procedure
It is imperative to inform the doctor about any medications and supplements the patient is consuming. This can increase the risk of bleeding after a bone marrow aspiration. In case of anxiety or worry, better talk to the health care provider so that a sedative medication could be given before the aspiration in addition to a numbing agent through local anesthesia at the site where the needle is inserted.
Bone marrow aspiration is done in a hospital, a clinic or in a doctor's room. A specialist in blood disorders – a hematologist – or an oncologist, who is a specialist in cancer does the procedure with a nurse and a trained technologist. It usually takes about half an hour for the exam and if any intravenous sedation is given, extra time is taken for pre and post procedure care.
The patient's blood pressure and heart rate are checked. Some form of anesthesia is administered before the bone marrow aspiration as it can be painful. For many, local anesthesia is sufficient. You will be fully awake during the aspiration, but the site is numbed to reduce pain. If you are quite anxious, intravenous IV sedation is given before the marrow procedure.
Bone marrow aspiration procedure
The area for inserting the biopsy needle is marked and cleaned. The bone marrow fluid (aspirate) is usually collected from the top ridge of the back of the hipbone, and if it is done from the breast bone or the front of the hip near the groin. In young children and kids, the sample is taken from the lower leg bone, just below the knee. The patient will be made to lie down on the abdomen or side.
The bone marrow aspiration is usually done before the biopsy. A small incision is made to insert the needle easier. A hollow needle is inserted through the bone and into the bone marrow. Several samples are taken and aspiration takes only a few minutes. While the health care team ensures that sufficient quantity of sample is drawn, sometimes a 'dry tap' may occur, that is fluid cannot be withdrawn. The needle is moved for another attempt.
Post aspiration procedure
After the bone marrow exam, pressure is applied to the where the needle was inserted to stop the bleeding. A smaller bandage is placed on the site. If local anesthesia had been administered the patient is asked to lie back for 10-15 minutes and apply pressure on the biopsy site. In case, IV sedation had been given, you are taken into a recovery area as sedatives may cause impaired judgment, memory lapses or slowed response.
Tenderness may be felt for a week or more after the bone marrow exam, and the doctor administers pain reliever. You need to keep the bandage dry for 24 hours and not shower or bathe, or swim or use the hot tub. It is okay to get the aspiration site wet after 24 hours. In case bleeding soaks through the bandage, or does not stop even with direct pressure, consult the doctor. The doctor also needs to be contacted if there is persistent fever, worsening pain, swelling at the procedure site and increasing redness or drainage at the procedure site. Also it is advised to avoid rigorous activity for a couple of days to minimize bleeding and discomfort.
Results from bone marrow aspiration
The sample is sent to a laboratory for analysis. The results are available in a few days. The pathologist or hematologist evaluates the samples to check the health of the marrow and if it has enough healthy blood cells and also for abnormal cells. The doctor confirms or rules out a diagnosis and how advanced the disease is or if the treatment is working. Sometimes, follow-up tests are done.
Risks of bone marrow examination
This is a safe procedure and complications are rare. But some complications include:
Excessive bleeding which can happen in people with low platelet count.
Infection in those with weakened immune systems.
Discomfort that could be long lasting in the biopsy site.
Heart and lung problems can be caused due to penetration of the breastbone.
Sedation can cause allergic reaction, nausea and irregular heartbeats in some.
Uses of bone marrow exams
These are used for many conditions including:
While problems with bone marrow can create lasting and serious health problems, bone marrow exams, such as aspiration and biopsy are important to help determine the status and extent of problems in the cells to evaluate and determine further treatment and management.
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Bibliography / Reference
Collection of Pages - Last revised Date: December 6, 2023