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THALASSEMIA

Submitted by : Jovan Pierre C. Ouano Submitted to : Mark Gil T. Dacutan

Both alpha and beta thalassemia include the following two forms: y y Thalassemia major Thalassemia minor . All are chronic conditions. There are many forms of thalassemia. a relatively benign and asymptomatic condition. Thalassemias usually result in underproduction of normal globin proteins. thalassemia disrupts the synthesis of globin. the Middle East. Each type has many different subtypes. and beta thalassemia major. Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. The two conditions may overlap. Whereas IDA affects heme synthesis. and African Americans. China. and in those of African descent. a mild to moderate form of microcytic anemia. There are two main types of thalassemia: y y Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). but most are not. hypochronic anemia that may be fatal. a severe. other Asians. and to a lesser extent. betathalassemia minor. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. These disorders include alpha-thalassemia. Thus. some thalassemias are hemoglobinopathies. Definition of the disease Thalassemia is a group of genetic disorders theat result in inadequate normal Hb production. These disorders also cause hemolysis. since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). often through mutations in regulatory genes.I. whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemia is a quantitative problem of too few globins synthesized. Either or both of these conditions may cause anemia. Beta thalassemias occur in persons of Mediterranean origin. microcytic. Alpha thalassemias occur most commonly in persons from southeast Asia. Chinese. however.

y One gene. you're a carrier of the disease and can pass it on to your children. If three of your alpha hemoglobin genes are defective. your blood doesn't have enough red blood cells to carry oxygen to your tissues leaving you fatigued. Thalassemia is caused by defects in the genes that make hemoglobin. It usually causes a fetus to die before delivery or shortly after birth. the condition is called alpha-thalassemia major or hydrops fetalis. you develop beta-thalassemia. Alpha-thalassemia Four genes are involved in making the alpha hemoglobin chain. But. You get two from each of your parents. The only way to get thalassemia is to inherit one or more defective hemoglobin genes from your parents. thalassemia signs and symptoms are mild. you'll have no signs or symptoms of thalassemia. your signs and symptoms will be moderate to severe. . Beta-thalassemia Two genes are involved in making the beta hemoglobin chain. This condition is called alpha-thalassemia minor. You get one from each of your parents. y Four genes. you develop alpha-thalassemia. Causes/Risk Factors Thalassemia disrupts the normal production of hemoglobin and leads to a low level of hemoglobin and a high rate of red blood cell destruction. y Two genes. When you're anemic. If only one of your alpha hemoglobin genes is defective. causing anemia. If one or more of the alpha hemoglobin genes are defective. y Three genes. When all four alpha hemoglobin genes are defective. If one or both of the beta hemoglobin genes are defective.II. If you have two defective alpha hemoglobin genes. This condition is also called hemoglobin H disease.

but also in Greeks and Italians. Thalassemia is an inherited disorder. In thalassemias.y One gene. you have mild signs and symptoms. there are two loci encoding the chain. and four loci encoding the chain. passed from parents to children through defective hemoglobin genes. production of the globin chain is affected. Greek. Thalassemia occurs most often in people of Italian. Thus in a normal person with two copies of each chromosome. Pathophysiology Normal hemoglobin is composed of two chains each of and globin. globin chains are encoded by a single gene on chromosome 11. your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia minor. y Ancestry. RISK FACTORS Factors that increase your risk of thalassemia include: y Family history. globin chains are encoded by two closely linked genes on chromosome 16. Chinese and Filipino descent. The thalassemias are classified according to which chain of the hemoglobin molecule is affected. This condition is called betathalassemia major or Cooley's anemia. . thalassemias are common in Africans. Thalassemia patients produce a deficiency of either or globin. If both of your beta hemoglobin genes are defective. southern Asian and African ancestry. while in thalassemia production of the globin chain is affected. y Two genes. III. If one of your beta hemoglobin genes is defective. but develop signs and symptoms within the first year of life. making them more likely to develop thalassemias. Deletion of one of the loci has a high prevalence in people of African or Asian descent. Babies born with two defective beta hemoglobin genes usually are healthy at birth. Middle Eastern. Alpha-thalassemia affects mainly people of Southeast Asian. unlike sickle-cell disease which produces a specific mutant form of globin.

and at high concentrations they form toxic aggregates. . they bind to the red blood cell membranes. y y Red blood cells will appear small and abnormally shaped when looked at under a microscope. producing membrane damage. IV. It is also connected to the deletion of the 16p chromosome. The severity of the disease depends on the nature of the mutation. also inherited in an autosomal-recessive fashion. thalassemias result in decreased alpha-globin production. inherited in a Mendelian recessive fashion. In either case there is a relative excess of chains. but these do not form tetramers: rather. The excess chains form unstable tetramers (called Hemoglobin H or HbH of 4 beta chains) which have abnormal oxygen dissociation curves. Clinical Manifestations y y y y y Fatigue Splenomegaly Jaundice from RBC hemolysis Bone marrow hyperplasia Hepatomegaly V. Mutations are characterized as ( o or thalassemia major) if they prevent any formation of chains (which is the most severe form of thalassemia). There are two gene loci and so four alleles. Diagnostic Tests A physical exam may reveal a swollen (enlarged) spleen. Beta ( ) thalassemias Beta thalassemias are due to mutations in the HBB gene on chromosome 11 . they are characterized as ( + or thalassemia intermedia) if they allow some chain formation to occur. A complete blood count (CBC) reveals anemia. A blood sample will be taken and sent to a laboratory for examination. therefore fewer alpha-globin chains are produced.Alpha ( ) thalassemias The thalassemias involve the genes HBA1 and HBA2. resulting in an excess of chains in adults and excess chains in newborns.

these hemoglobin molecules make up the following percentages of total hemoglobin: y y y Hb F (newborn): 50% to 80% Hb F (6 months): 8% Hb F (over 6 months): 1% to 2% Note: Normal value ranges may vary slightly among different laboratories." These medications may be given as a pill or as an infusion under the skin. you should not take iron supplements. Medical/Surgical Interventions Treatment for thalassemia major often involves regular blood transfusions and folate supplements.y A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin. Normal Results In adults.8% to 2% Hb S: 0% Hb C: 0% In infants and children. . A test called mutational analysis can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis. Doing so can cause a high amount of iron to build up in the body. which can damage the heart. which can be harmful. these hemoglobin molecules make up the following percentages of total hemoglobin: y y y y y Hb A: 95% to 98% Hb A2: 2% to 3% Hb F: 0. If you receive blood transfusions. you may need to take medications known as "iron chelators. In some cases. Talk to your doctor about the meaning of your specific test results. liver and other organs. Blood transfusions cause a buildup of iron in the blood. VI. To help the body get rid of the extra iron. a bone marrow transplant or a stem cell transplant may be used to treat severe thalassemia.

g. Nursing Interventions y y y y y y Watch for adverse reactions during and after RBC transfusions. Deferoprone is an oral iron chelator that has been approved in Europe since 1999 and many other countries. Encourage the patient to drink plenty of fluids. a reactive intermediate in the hydroperoxide-dependent Hb degradation. found in beets. Provide emotional support Explain the need for lifelong transfusions. . Collaborative an antibiotic. especially children. results demonstrate that indicaxanthin can be incorporated into the redox machinery of -thalassemic RBC and defend the cell from oxidation. It is available under compassionate use guidelines in the United States. possibly interfering with perferryl-Hb.Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body. Medication Medical therapy for beta thalassemia primarily involves iron chelation. Bone marrow transplant may help treat the disease in some patients. Deferoxamine is the intravenously or subcutaneously administered chelation agent currently approved for use in the United States. Patient teaching : y y y Explain how to prevent infection e. VII. which are always possible with frequent transfusions. Deferasirox (Exjade) is an oral iron chelation drug also approved in the US in 2005. Collectively. and observe the patient for adverse reactions. in a spectrophotometric study showed that indicaxanthin can reduce perferryl-HB generated in solution from met-Hb and hydrogen peroxide. The antioxidant indicaxanthin. more effectively than either Trolox or Vitamin C. nutrition. wound care Tell about signs of hepatitis and iron overload. Explain why child must avoid strenuous athletic activity to avoid pathologic fractures. Provide an adequate diet.

wikipedia. 1(p.com/doc/11824497/thalassemia http://www. By Suzanne C. et.org/wiki/Thalassemia#Cause http://www. Vol. 2(pp. al http://en. Vol. 12th ed.nlm.2288-2289).nih. Smeltzer .gov/medlineplus/ency/article/000587. By Joyce M.925).scribd. Black & Jane Hokanson Hawks Brunner & Suddarths Textbook of Medical-Surgical Nursing.References : Medical-Surgical Nursing : Clinical Management for positive Outcomes.htm .