Learning about Thalassemia

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Thalassemia

The problem

Thalassemia is an inherited disorder of the blood in which the synthesis of hemoglobin is defective. About 100,000 babies globally are born with serious forms of thalassemia each year .The two major types of thalassemia are called "alpha" and "beta," depending on which section of an oxygen-carrying protein in the red blood cells (RBCs) is defective. This potentially life-threatening involves flaw in the transportation of the red blood cell (RBC) to be ineffective as there is lesser number of RBC in bloodstream. Thalassemia can be treated. So what are the current available treatments available for this disease?

Stem Cell Bone Marrow Transplantation

Bone marrow stem cells and other blood cells are produced in the bone marrow which is a spongy substance situated in the center of the bones.

Allogeneic stem cell transplantation is recently the most excellent treatment to defeat Thalassemia. "Allo" means "other"22. This means that the stem cells comes from another person who is called a donor. The donor must have the same genetic typing and blood type as the patient, so that their blood is well-matched to the patient's and will not coagulate and cause problem.

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A number of centers have used this technique as a curative therapy for beta-thalassemia. The percentage of cure in bone marrow transplantation in younger kids is high but falls as the patient becomes older as there is a greater threat as they are more easily harmed by sickness and have a cure rate of only 62% even with modern treatment present. The most vast experience with BMT in beta-thalassemia was reported by Lucarelli and co-workers in Italy who studied more than 800 transplanted patients21. In 1982, Thomas et al in Seattle, successfully cured the first thalassemia major patient by bone marrow transplantation11.

Majority of stem cell transplantations in thalassemias were performed by using human leukocyte antigen HLAcompatible sibling donor bone marrow10. However it is very difficult to find HLA-identical sibling donor for affected patients and only around 25-30% of thalassemic patients would have a matched sibling donor with same genetic typing and blood group. Recently, modern HLA typing has enabled transplant to be done from unrelated volunteer donors, with outcome as good as with those obtained from HLA-identical sibling.

A small quantity of liquid segment is collected using a needle placed into the bone marrow. This is done repetitively to collect sufficient stem cells for the person receiving the donated bone marrow. This process is called bone marrow aspiration5. The bone marrow cells are kept in a blood bag and its regularly frozen for future use. Prior to the transplant, chemotherapy will be done on patient to demolish any cancerous cell and to avoid the immune system from rejecting the new transplanted stem cells. Following chemotherapy, the patient will be given about a few days rest before receiving the new, healthy stem cells. It will be given through the patients IV catheter, which is like a fast blood transfusion2 . If the stem cells were frozen, the patient will be given some drugs before the stem cell transplant to ensure the body does not act in response with the preserving drugs that are used when freezing the cells.

Results From Studies

A study was done with 107 adult Thalassemia patients with median age of 22 years who received bone marrow transplantation (BMT) from human leukocyte antigen (HLA)-identical related donors between 1988 and 1996. The probability of survival, event-free survival, non-rejection mortality, and rejection for these patients were 66%, 62%, 37%, and 4%, respectively, with a median follow-up of 12 years23.

PROGNOSTIC FACTORS FOR OUTCOME AFTER BMT

The risk of BMT using an HLA-identical sibling donor could be forecast according to the presence or absence of only three condition: hepatomegaly, evidence of portal fibrosis in the liver on biopsy, and inadequate iron chelation therapy (Lucarelli et al. 1990)21 . Patients with none of these risk factors can be categorized as class I, with one or two of these risk factors as class II, and with all the three risk factors as class III. When such type of analysis was performed in a large series of patients it was seen that diseasefree survival was 94%, 77% and 53% in class I, II and III, respectively (Lucarelli et al. 1990)21.

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Graf shows the number of bone marrow transplant done is the most compared to peripheral blood stem cells transplant and umbilical cord blood transplant from 1987 to 2005. This is the best treatment for thalassemia.

Ethical and Economic Implications

The major ethical issue correlated with transplant is the crucial short of on hand donors. Questions surrounding the inadequate supply of donor organs include who should get the organ. Is it for someone wealthy who can afford the operation or someone needy from the welfare who cannot pay such a huge amount to proceed with the operation. There is also a anxiety over those who buy organs from the patient who is going to die soon or from the family after the person has died. This shellfish act is like hoping for someone else to die to just get their organs and saving themselves. Moreover, bone marrow transplant is a dangerous procedure that has life-threatening risks.

Bone marrow transplant is a very pricey procedure and might only be done by the rich. The cost for allogeneic transplant may range from $150,000 to $200,000 . Since most people cannot afford such operations, the burden falls on society in the form of higher insurance premiums and government subsidies21. Even after the surgery, it can cost more than ten thousand dollars a year excluding those covered by the insurance to keep the person alive due to the high cost of anti-rejection drugs, follow-up care, home care and medical prescriptions.

Benefits and Risks

Bone marrow transplant (BMT) is done to ensure the body produces healthy blood cells and bring their numbers to normal levels. A bone marrow transplant can be used to replace diseased, non-functioning bone marrow with healthy functioning bone marrow (for conditions such as thalassemia)18. If successful, the healthy replaced stem cells will combine with the body and produce normal cells which can carry out their role as a specific tissue properly. This will enable the body to overcome the disease since the healthy bone marrow is now able to carry out its function normally. Thus, the patient will be healthy.

BMT has risks involved, some of which are life threatening. Infection is the main risk because before the bone marrow can restore its function back to normal the body has a very low immunity leval16. During this time, the patient can be attacked easily by dangerous infections. Besides that, liver and heart are the two important organs that can be affected and damaged during the transplantation process. If you're undergoing a transplant that will use stem cells from a donor (allogenic stem cell transplant), you may be at risk of graft-versus-host disease. This condition occurs when a donor's transplanted stem cells attack your body15. Other complication include cataracts due to radiation treatment and secondary cancers.

Alternative Solutions

Blood Transfusions as Treatments for Thalassemia

Thalassemia can also be treated by regular blood transfusions. Blood transfusion provides blood (containing normal red blood cells from healthy donors) through a needle into a vein1. Red blood cells has life spend about 120 days. So, transfusion has to be carried out regularly to maintain a normal supply of healthy RBCs. Blood transfusions are usually done every two to four weeks to keep hemoglobin and RBCs numbers at normal levels. Transfusion therapy can ensure a person with severe thalassemia to feel better, able to carry out normal lifestyle, and increase survival period. Blood transfusions are lifesaving, but they're expensive and carry a risk of transmitting infections and viruses (for example, hepatitis) 4. Transfusion therapy causes iron concentration in the blood to increase which can damage organs such as the liver and heart. To prevent this, iron chelation therapy is needed to bring back iron concentration to normal.

Iron Chelation Therapy as Treatment for Thalassemia

Blood transfusions causes iron overload which is fatal if not treated. Consistent development in finding out cure for Thalassemia major over the last 20 years has been progress in the development iron-chelating therapy for iron overload7. Since each unit of blood deposits about 230 mg of iron, most patients who require, for instance, 2 units of blood per month will have at most a very slightly negative iron balance with chelation therapy8. Desferrioxamine is the most commonly used iron chelator which take away around 30 to 70 mg of iron per day . Two medicines are used for iron chelation therapy. Deferoxamine (Desferal) is a liquid medicine that's given slowly under the skin, usually with a small portable pump used overnight4 . The other is Deferasirox which is a pill taken once a day. Side effects of this medication are headache, nausea, diarrhea and feeling weak. Chelation therapy is given 5 to 7 days a week and has been proven to prevent liver and heart damage from iron overload, allow for normal growth and sexual development in children with thalassemia, and increase life span3.

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Comparison of hepatic iron and serum ferritin concentrations in patients with thalassemia major. Indirect estimation of body iron load, based on serum ferritin concentration, is compared with the reference method, direct measurement of hepatic iron concentration (by chemical analysis or magnetic-susceptibility studies) in patients with thalassemia major treated with deferiprone. Open circles denote the values determined prior to deferiprone therapy and solid circles those at the time of final analysis after 1 to 5 years of treatment. The diagonal line denotes the simple linear least-squares regression between the two variables. (Reprinted by permission of The New England Journal of Medicine, Olivieri NF, Brittenham GM, Matsui D, et al. Volume 332, pp 918-922, 1995. Copyright 1995. Massachusetts Medical Society.

Evaluation

Blood transfusion and iron-chelation therapy are both treatment for thalassemia. This two treatments helps to improve quality of life and make patients feel healthier. It is proven in reference (1) http://www.genome.gov/10001221 from the National Human Genome Research Institute and supported in many other source such as (3) http://www.utoronto.ca/kids/Thalassemia.htm and (4) http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_Treatments.html. This source is reliable as it is from National Heart, Lung and Blood institute.

This source http://www.ncbi.nlm.nih.gov/pubmed/12430869 (14) is also reliable as it is from the U.S. National Library Of medicine and the National Institutes of health which is reliable. It provide information that stem cell transplantation is a cure for thalassemia and its supported in http://www.nature.com/bmt/journal/v42/n1s/full/bmt2008112a.html (10).

Its proven with research that BMT has the highest percentage of cure in http://www.ncbi.nlm.nih.gov/pubmed/16339666?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_SingleItemSupl.Pubmed_Discovery_RA&linkpos=3&log$=relatedarticles&logdbfrom=pubmed (23). It states that the probability of survival, event-free survival, non-rejection mortality, and rejection for group A patients which is those treated using Bone Marrow transplantation were 66%, 62%, 37%, and 4%, respectively.

Reference

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