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Hemochromatosis

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 haemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released. 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 liver failure.


Persons suffering from haemochromatosis tend to feel fatigue and lethargy. There might be joint pain or arthritis. Men might notice impotence and reduced sex drive. Other symptoms of haemochromatosis 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.


Hemochromatosis is diagnosed through blood tests and liver biopsy. Therapeutic venesection or phlebotomy is a process of regular bloodletting, similar to blood donation. Patients suffering from Haemochromatosis must limit the consumption of iron. Excess alcohol consumption must be avoided. Avoid iron supplements and Vitamin C, which aids absorption of iron.

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:


  • To determine a disease progression
  • To check the iron levels and metabolism and
  • To monitor treatment of a disease.

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:


  • Anemia
  • Bone marrow disorders which include myelodysplastic syndrome and myelofibrosis.
  • Blood cell conditions such as Leukopenia, leukocytosis, thrombocytopenia, thrombocytosis, pancytopenia and polycythemia – which produce too few or too many of certain types of blood.
  • Cancers of the bone marrow or of blood including leukemia, lymphomas and multiple myeloma.
  • Cancers that have spread to other areas including breast.
  • Hemochromatosis and
  • Infections.

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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Collection of Pages - Last revised Date: March 21, 2019