Thalassemia Bangladesh Perspecti free essay sample

What is Thalassemia? Thalassemia is an inherited blood disorder in which parents pass the genes for disorder on to their children. It reduces reproduction of red blood cells in human body. In thalassemia patient, the genes that control globin production are mutated or deleted. As a result, formation of the corresponding globin chains is trimmed down and an abnormal hemoglobin ratio is enhanced. This abnormal ratio leads to a decreased synthesis of hemoglobin and expression of thalassemia. Professor Dr. Mamun Ahmed from the Department of Biochemistry and Molecular Biology, Dhaka University explained, â€Å"If one among 23 pairs of chromosomes of one’s body is affected by Alpha or Beta chain mutation, one may become victim of Thalassemia. If both the chromosomes of a pair are affected, chance is 25 percent that the person will be victim of this lethal disease. † Thalassemia causes mutation in the DNA of cells that make hemoglobin, the substance in the red blood cells that carries oxygen throughout the body. We will write a custom essay sample on Thalassemia: Bangladesh Perspecti or any similar topic specifically for you Do Not WasteYour Time HIRE WRITER Only 13.90 / page The mutations thus disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of red blood cell destruction, causing anemia. Due to anemia, the blood does not have enough red blood cells to carry oxygen to the tissues, leaving one fatigued. Epidemiology Generally, thalassemia is prevalent in the people living in humid climate zones where malaria was endemic in the past or still exists. Since thalassemia acts as an antidote to malaria because of the blood cells easy degradation, it got epidemic in those regions. Thalassemia was first detected among Mediterranean inhabitants. In fact, this geographical association is responsible for its naming: Thalassa is Greek for the sea, Haema is Greek for blood. In Europe, the highest concentrations of the disease are found in Greece, coastal regions of Turkey, Southern Italy and the lower Po valley. The major Mediterranean islands (except the Balearics) such as Sicily, Sardinia, Malta, Corsica, Cyprus, and Crete are heavily affected in particular. High rate of thalassemia is also seen among other Mediterranean people, as well as those in the vicinity of the Mediterranean, including people from West Asia and North Africa. Far from the Mediterranean, South Asians are also affected. The Maldives has the highest incidence of Thalassemia in the world with a carrier rate of 18% of the population. Likewise, lots of people from Bangladesh, China, India, Malaysia and Pakistan are also believed to be thalassemia carriers. Descendants of people from Latin America and Mediterranean countries are other notable thalassemia carriers. Furthermore, a very low prevalence has been reported from people in Northern Europe (0. 1%) and Africa (0. 9%), with those in North Africa having the highest frequency. Types of Thalassemia Normal hemoglobin, known as hemoglobin A, has four protein chains – two Alpha globins and two Beta globins. The two major types of thalassemia, Alpha and Beta, are named after defects in these protein chains. Both Alpha and Beta thalassemias include the following two forms: * Thalassemia major * Thalassemia minor Thalassemia major occurs as a result of inheritance of defective gene from both parents, while thalassemia minor occurs if the defective gene is received from only one parent. Persons with the minor form of the disorder are carriers of the disease and usually do not have symptoms. Alpha Thalassemia Four genes (two from each of the parents) are involved in making the Alpha hemoglobin chain. Alpha thalassemia trait occurs if one or two of the four genes are deleted or mutated. Four possible cases of Alpha thalassemia can be observed. * One mutated gene: There will be no signs or symptoms of thalassemia. However, there is always a risk of passing this disease to the predecessors. * Two mutated genes: It may cause mild anemia. This condition is called Alpha thalassemia minor. * Three mutated genes: Signs and symptoms will be moderate to severe. This condition is also called hemoglobin H disease. * Four mutated genes: This condition is called Alpha thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery or a newborn to die shortly after birth. Beta Thalassemia Two genes (one from each parent) are needed to make enough Beta globin protein chains. Beta thalassemia occurs if one or both genes are altered. The severity of Beta thalassemia depends on the amount of affected genes. Two possible cases of Alpha thalassemia can be observed. * One mutated ene: Signs and symptoms will be mild. This condition is called Beta thalassemia minor. * Two mutated genes: Moderate to severe anemia will be experienced. This condition is called Beta thalassemia major or Cooleys anemia. Babies born with two defective Beta hemoglobin genes usually are healthy at birth, but develop signs and symptoms within the first two years of life. Risk Factors Family history and ancestry are the two risk factors for thalassemia. Fam ily History: Thalassemias are inherited. They are passed from parents to children through the genes. If you have a family history of thalassemia, you may have an increased risk of the condition. Ancestry: Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, South Asian and North African ethnicity. Symptoms Signs and symptoms of thalassemia include: * Fatigue. * Weakness. * Shortness of breath. * Pale appearance. * Irritability. * Yellow discoloration of skin (jaundice). * Facial bone deformities. * Slow growth. * Abdominal swelling. * Dark urine. The signs and symptoms depend on the type and severity of thalassemia. Some babies show signs and symptoms at birth, while others may develop signs or symptoms during the first two years of life. People with one affected hemoglobin gene usually do not experience any thalassemia symptom. Complications Possible complications of thalassemia include: * Iron overload: People with thalassemia can get too much iron in their bodies, either from the disease itself or from frequent blood transfusions, which can damage the heart, liver and endocrine system. * Infection: People with thalassemia have an increased risk of infection, especially if spleen is removed. In cases of severe thalassemia, the following complications may occur: * Bone deformities: Thalassemia may expand bone marrow, which causes the bones to widen. This often results in abnormal bone structure, especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones. * Enlarged spleen: The spleen helps the body to fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells, making the spleen work harder than normal, causing it to enlarge. It can aggravate anemia and reduce the life span of transfused red blood cells. If the spleen grows too big, it may need to be removed. * Slowed growth rates: Anemia can cause a childs growth to slow. Puberty also may be delayed in children with thalassemia. * Heart problems: Heart problems, such as congestive heart failure and abnormal heart rhythms, may be associated with severe thalassemia. Diagnosis Doctors diagnose thalassemia using blood tests, including a complete blood count (CBC) and special hemoglobin tests. CBC provides information about the amount of hemoglobin and different blood cells in a sample of blood. A thalassemia patient has fewer healthy red blood cells and less hemoglobin than normal in blood. * Hemoglobin tests measure the types of hemoglobin in a blood sample. One, who has thalassemia, has problems with the Alpha or Beta globin protein chains of hemoglobin. Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficie ncy or thalassemia. Iron-deficiency anemia occurs if the body doesnt have enough iron to make hemoglobin. However, thalassemia induced anemia occurs because of the problem with either the alpha globin or beta globin chain of hemoglobin, not because of lack of iron. Since thalassemia is passed from generation to generation through genes, family genetic studies can also help to diagnose the disorder. These studies involve taking a family medical history and doing blood tests on family members. The tests will show whether any family members have missing or altered hemoglobin genes. Once identified, the risk of passing the disorder to a specific predecessor can be determined. If you and your spouse – both are thalassemia carriers, you should consider prenatal testing whenever you are expecting a baby. Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta (Amniotic fluid is the fluid in the sac surrounding a growing embryo and placenta is the organ that attaches the umbilical cord to the mothers womb). Tests will reveal if your baby will have thalassemia or not and if yes, how severe it may be. â€Å"If prenatal diagnosis shows that the baby would be victim of this lethal disease, abortion of the baby may require to be done†, Dr. Mamun Ahmed suggested. Treatment Treatment varies with the type and the severity of the disease. Treatment for mild thalassemia: Occasionally, a blood transfusion may be needed, particularly after a surgery or after having a baby. Treatment for moderate to severe thalassemia: Treatments for moderate to severe thalassemia may include: * Stem cell or bone marrow transplant: It is used to treat severe thalassemia in some particular cases. Prior to a stem cell transplant, very high doses of drugs or radiation to destroy the diseased bone marrow are applied. Then infusions of stem cells are received from a compatible donor. However, this treatment is undertaken in most severe cases when there is a well-matched donor available – usually a sibling, because these procedures have serious risks, including death. Nevertheless, very high cost of the treatment has kept this procedure limited only to a handful of patients. * Frequent blood transfusions: Frequent blood transfusions are often required, possibly every few weeks. Over the time, blood transfusions cause a buildup of iron in the blood, which can damage heart, liver and other organs. To help the body get rid of the extra iron, medications are required. Iron overload is the single most expensive part of the blood transfusion dependant treatment of thalassemia. Most common therapy for iron chelation is subcutaneous injection of ‘deferrioxamine’, commonly known as ‘desferal’, with a micro pump over a period of 10 to 12 hours. Ideally the injection needs to be taken every day. But, for practical reasons it is administered 5 or 6 days a week. The therapy is painful and very expensive. ‘Deferiprone’ is a cheaper alternate to ‘desferal’ and it is taken orally. However, its unfortunate severe side effects make it the second choice for iron chelation therapy. * Splenectomy: It is another form of treatment. When the spleen becomes too active and starts destroying red blood cells, transfusion becomes less effective with time being. Then it may become necessary to take the spleen out. This operation is called splenectomy. Prevention All forms of thalassemia are transmitted only through hereditary. It is a severe and incurable disease so emphasis must shift from treatment of the affected child to prevention of such births in future. Living with Thalassemia With the advancements in medical science and technology, survival and quality of life have improved for thalassemia affected people. Living with thalassemia can be challenging, but several approaches can help you cope. If you are a thalassemia carrier, be sure to: * Avoid excess iron. Unless your doctor recommends it, dont take vitamins or other supplements that contain iron. * Eat a healthy balanced diet with adequate calcium and vitamin D to boost your energy and keep your bones healthy. Your doctor may also recommend you to take a folic acid supplement to help your body make new red blood cells. Avoid infections. Protect yourself from infections with frequent hand-washing and by avoiding ailing people. This is especially important if you have your spleen removed. * Follow your treatment plan. * Get ongoing medical care. * Seek help and support. Thalassemia in Bangladesh Bangladesh is one of the most thalassemia prone countries of the world. It is a matter of grief that there is no definite data regarding the carrier status of hereditary hemoglobin disorder, existing in Bangladesh. No screening program had ever been taken in any population group. In 2002, a World Health Organization (WHO) report concerning Bangladesh estimated that about 3 percent of the total population was carrying Beta thalassemia while 4 percent were carriers of abnormal hemoglobin E (HbE). Hence, there were about 3. 6 millions carriers of Beta thalassemia and 4. 8 millions carriers of HbE. It also stated that Beta thalassemia and abnormal HbE affected birth per thousand were 0. 106 and 3. 0 respectively. In 2004, Dhaka Shishu Hospital conducted a preliminary study to identify carrier state among the school children. The study revealed that 4. 1 and 6. percent children were carrier of Beta thalassemia HbE respectively. In tribal school children, the prevalence of the HbE trait was 41. 1 percent, while that of Beta thalassemia was 4. 2 percent. The study also concluded that the expected births of Beta thalassemia affected children were about 1,040 per year, with a further 6,443 HbE affected births. Thus more than 7,000 children are born with thalassemia ea ch year in Bangladesh. Thalassemia Treatment in Bangladesh Dhaka Shishu Hospital was the pioneer in establishing a separate specialized center for care and treatment of thalassemic children. This center now has 17 beds for giving transfusion to thalassemic children. It provides free treatment to poor thalassemic children providing them with free blood and ‘desferal’ on  requirement basis. The center has its own blood bank ensuring safe blood and laboratory for diagnosing thalassemia and also other investigations relevant to this disease. There are two genetic counselors for giving advice to carriers and parents of thalassemic children. This center has also doing research work on thalassemia and has published many papers in local journals. In 2004, another specialized thalassemia treatment centre named Bangladesh Thalassemia Hospital, established by Bangladesh Thalassemia Society, launched their journey. It has developed facilities to serve 30 patients at a time. With foreign assistance, it has established a blood bank, equipped with modern instruments, for preservation of blood. It also has a diagnostic unit as well as a unit for iron chelation therapy. ASHA Thalassemia Center, founded by Bangladesh Thalassemia Foundation in May 2008, is another addition to the existing thalassemia treatment facilities. It consists of 8 beds with capacity of giving 16 transfusions a day in two sifts. There are 5 employees for this center including a doctor and a nurse. The patients get day care blood transfusion, iron chelation, medical consultation and counseling plus essential laboratory tests here. In August 2009 Nobel laureate Dr. Muhammad Yunus, the then chairman of Grameen Health Care Trust and Cure2Children Foundation of Italy   signed an memorandum of understanding to establish a bone marrow   transplantation centre for thalassemia in Bangladesh. A committee of Grameen Health Care Trust, Cure2Children, thalassemia associations and local rofessionals prepared an action plan to perform feasibility study with the first transplant within the first half of 2010 and a plan to cure all uses of Thalassemia by 2025. Conclusion With global improvement in prevention and treatment of childhood diseases to prevent mortality from malnutrition, diarrhea and acute respiratory infections, thalassemia wil l become a major issue in developing countries like Bangladesh in this millennium. All over the world efforts are being made to prevent the birth of thalassemic child and to improve the quality of the patient’s life. Thalassemia needs to be recognized, as an important health issue in this country and steps need to be taken to control the birth of thalassemic children. The following steps to be recommended: * Social awareness: It is of prime importance to create awareness about thalassemia to the general population by holding seminars, workshops and writing articles in the daily newspapers, broadcasting in television and radio. Thalassemia day is observed on 8 May all over the world. On this day various activities has to be arranged and media should play a vital role here for dissemination of information and recent advancements about thalassemia. The government must also take steps to create awareness among the rural populations by involving thana health complexes and other different local organizations. Apropos, it is a matter of sorrow that no other city in Bangladesh other than Dhaka has facilities for the diagnosis of thalassemia. * Population screening: Due to huge population, it is reasonable to select a cohort for screening e. g. pregnant women. They are usually accessible to the health system and information on reproductive risk is of immediate relevance to them. Screening of close relatives of some of the affected children also is insisted. * Genetic counseling: Thalassemia carriers and parents having a thalassemic child should be facilitated with genetic counseling. It should be non directive and the counselor’s main role is to provide people at risk with full information, give them time for consideration and support them in making decisions. * Prenatal diagnosis: It is a well established procedure in developed countries. There is need for religious and legal scrutiny of prenatal diagnosis and therapeutic abortion in our society. ve