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Did You Know?
We are excited that thousands of DBA families and friends from all over the world "like" the Diamond Blackfan Anemia Foundation's Facebook page, and we encourage you to visit our page often. The page allows us to provide regular updates and "real time" news. We also recognize Facebook has its limitations. It is easy to miss a news feed and not everyone is a Facebook user. Our goal is to keep all DBA families informed and updated. For those preferring to receive information and support via email, the DBA community has an email-based Yahoo support group. You can join the group by visiting www.DBAFoundation.org.
Our Facebook page posts DBA facts written by DBA nurse, Ellen Muir, RN, MSN, CPON. Ellen has shared four well received DBA facts and has agreed to allow us to print the DBA  facts in our e-newsletters. This month, we will catch everyone up on the past facts, and future issues will include subsequent DBA facts. Thanks Ellen!
DBA Fact #1: REMISSION
Approximately 20% of those affected with DBA have a chance of going into spontaneous remission. These can be long lasting. It is possible to go into and out of remission at any point of your life. Remission for DBA is when no treatment (steroids or transfusion) are required for 6 months or more.
DBA Fact #2: IRON CONTENT
One unit of blood contains 200mg of iron, which would be the same amount of iron as eating 69 lean 3oz steaks. One 3oz steak contains 2.9mg of iron.
Food restrictions of iron are unnecessary in preventing iron overload, however supplemental vitamins should be avoided. (Women's One a Day vitamin contains18mg iron, Men's One a Day vitamin contains 0mg iron).
DBA Fact #3: RED BLOOD CELL PRODUCTION AND MEDICATION
Red blood cells (RBCs) are produced in the bone marrow. The RBCs carry hemoglobin to all the cells of the body, providing oxygen for function. Reticulocytes (retics) are immature red blood cells. The % will tell us how hard the bone marrow is working. It is not uncommon in a bone marrow failure syndrome such as DBA to have a retic of <1%.
Drugs which have been studied to improve RBC production include:
Corticosteroids (prednisone, prelone, prednisolone) Has been the standard drug for treating DBA with a response rate of 80%. Many side effects with long term use, or at high doses, including growth stunting, high blood pressure, cataracts, diabetes, and osteoporosis to name a few. With an initial trial of high doses, there is a risk of infection, especially a serious form of pneumonia. Bactrim can be given to prevent this from happening. If there is a response in hemoglobin and retics, the dose is tapered to a more tolerable lower dose (ideally 0.5 mg/kg every other day)
Cyclosporine A (CSA) and Antithymocyte Globulin (ATG) has been studied in DBA patients with limited success. An NIH-sponsored protocol combining CSA and ATG closed due to poor responses. These drugs are associated with serious side effects, including compromising the immune system and kidney failure.
Epogen (procrit, epo, erythropoietin) Erytropoietin is produced naturally by the kidney to help improve production of RBCs. It can be supplemented by injection for low levels in the system. Patients with DBA have no problem with production, in fact usually have very high levels. Even giving high doses will not increase RBC production in DBA. Proven not to work.
Metoclopramide (Reglan) Has shown to be effective in DBA. A 33% hematologic response rate in a small group of patients with DBA using metoclopramide, an inexpensive, commonly used drug for reflux, induces the release of prolactin from the pituitary gland, thereby increasing prolactin levels. It was proposed that prolactin likely improves erythropoiesis by stimulating cells in the microenvironment of erythroblasts. Unfortunately other studies in the US and Europe did not confirm these responses but showed a 10% response rate.
Leucine (L-leucine) Leucine is a branched chain amino acid (BCAA) used by muscle for energy. Amino acids are the building blocks of protien and commonly found in food. Recently, leucine has been tried in one patient in the literature with DBA. A complete response was associated with its administration (discontinuation of transfusion). In unpublished data 5 more patients have been placed on a leucine trial with partial responses in 4 of the 5 patients (either decreased need for treatment or discontinuation of treatment). A clinical trial to study the safety and effectiveness of giving leucine to 50 DBA patients on transfusions is soon to open, once the protocol goes through the approval process of the DOD, FDA and hospital review board.
Other drugs undergoing investigation presently or in the near future are: lenalidomide (Revlimid), and drugs used for cancer treatment with a side effect of increased hemoglobin. No results are available yet.
DBA Fact #4: MANAGEMENT OF IRON WITH TRANSFUSION
Criteria for starting chelation:
At transfusion # 10- 20 measure serum ferritin. If between 10 and 20 transfusions serum ferritin is greater than 1000- 1500 ng/ml, on 2 separate occasions (a month apart), start chelation. Ferritin levels are elevated with any stress on the body...the flu, a cold, virus, etc. It is considered 'an acute phase reactant'. Need to monitor ferritin as a trend, slowly going up or down, not a jump. If ferritin is high for age or with number of transfusions, you should be tested for the hemochromatosis gene (HFE) which is another disorder which the body retains iron, causing the same problems as transfusions. Combine with transfusion- double trouble.
Before starting chelation, should have hearing and vision testing as well as an echocardiocram and EKG as a baseline and then once a year.
- Dosing of Desferal (Deferoxamine, DFO) 40mg/kg 7 nights a week, then may taper to 5 nights a week. A Desferal challenge may be done before starting DFO, which is admission to the hospital, collecting urine for 24 hrs to measure iron without DFO and then start DFO, collecting urine for another 24 hrs for iron quantification. If not enough iron is being excreted, may need to hold off starting due to high possiblity of toxicity from DFO.
Desferal only works while it is being infused. Once it is disconnected, the free iron has nothing to bind to in order to be eliminated from the body.
Some doctors like to use vitamin C with chelation. Must be used with caution. It should not be taken when the DFO is not being infused!!! The vitamin C pulls iron from the tissues into circulation. If there is nothing there to attach to (DFO), it will deposit somewhere else- possibly the heart!!!
- Exjade (deferasirox) dosing is 20 mg/kg and may be escalated to 40 mg/kg maximum dose. Exjade works well to maintain iron balance, does not bring ferritin levels down very quickly. May be used at the same time as DFO ie. DFO 12 hrs over night, then Exjade in the morning.
Iron Overload is a Serious Health Condition with no symptoms until it is too late. Some complications include:
cirrhosis or fibrosis of the liver
cardiac arrythmias, which can be lethal
diabetes
reproductive organ failure
growth stunting
endocrine failure affecting the thyroid
as well as others.
Please call me with any questions. Iron overload is reversible, even if in trouble with cardiac issues. Diabetes and reproductive failure may not be reversed. Ellen Muir, RN, MSN 1-877-DBA-NURSe (322-6877)
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