Thalassemia PDF

Thalassemia Thalassemia is an inherited blood disorder characterized by less hemoglobin and fewer RBCs in the body than normal.Several types of thalassemia exist, including alpha-thalassemia, beta- thalassemia, Cooley’s anemia, and Mediterranean anemia. Beta-thalassemia is the most common form of...

Thalassemia Thalassemia is an inherited blood disorder characterized by less hemoglobin and fewer RBCs in the body than normal.Several types of thalassemia exist, including alpha-thalassemia, beta- thalassemia, Cooley’s anemia, and Mediterranean anemia. Beta-thalassemia is the most common form of this disorder, resulting from defective beta-polypeptide chain synthesis. It occurs in three clinical forms: major, intermediate , and minor, and the prognosis depends on which form of beta- thalassemia the child has.  Children with thalassemia major may survive into adulthood but generally have reduced life spans. Children with thalassemia intermediate develop normally into adulthood, although puberty is usually delayed.  People with thalassemia minor can expect a normal life span. What causes it Thalassemia major and thalassemia intermediate result from homozygous inheritance of the partially dominant autosomal gene responsible for this trait. Thalassemia minor results from heterozygous inheritance of the same gene. How it happens In each disorder, total or partial deficiency of beta-polypeptide chain production impairs hemoglobin synthesis and results in continual production of fetal hemoglobin, lasting even past the neonatal period. What to look for In thalassemia major, the infant is well at birth but develops 1-severe anemia, 2- bone abnormalities, 3- failure to thrive, 4- life-threatening complications. In many cases, the first signs are pallor and yellow skin and sclera in infants ages 3 to 6 months. Later clinical features include splenomegaly or hepatomegaly with abdominal enlargement, frequent infections, bleeding tendencies, and anorexia. These signs and symptoms are also found: Children usually have small bodies and large heads. If untreated, older children may have an enlarged maxilla, depressed bridge of the nose, and protruding lips. Children become susceptible to pathologic bone fractures  cardiac arrhythmias, heart failure, and other complications that result from iron deposits in the heart and other tissues due to repeated blood transfusions. Patients with thalassemia intermediate show some degree of anemia, jaundice, and splenomegaly; Patients with thalassemia minor may cause mild anemia but usually produces no symptoms and is commonly overlooked. What tests tell you 1-Hemoglobin levels and RBC counts are low 2- reticulocyte and bilirubin levels are elevated. 3-X-rays of the skull and long bones show thinning and widening of the marrow space because of overactive bone marrow 4- Quantitative hemoglobin studies show a significant rise in hemoglobin F. With prolonged disease, there may be increased 5- levels of serum ferritin from RBC lysis and chronic transfusion. ##Blood Transfusions Severe forms of thalassemia are treated by regular blood transfusions. Blood transfusions are done on a schedule (often every 2–4 weeks) to keep hemoglobin levels and red blood cell numbers at normal levels. ## Iron Chelation Therapy: Iron chelation therapy uses medicine to remove the excess iron that builds up in the body when a person has frequent blood transfusions. If the iron is not removed, it damages body organs, such as the heart and liver. The medicine, deferoxamine (Desferal), works best when given slowly under the skin, usually with a small portable pump overnight. ## Surgery: Surgery may be needed if body organs, such as the spleen or gall bladder, are affected. For example, if the spleen becomes inflamed and enlarged, it may be removed. If gallstones develop, the gall bladder may be removed. ## Bone Marrow or Stem Cell Transplants Bone marrow or stem cell transplants have been used successfully in some children with severe thalassemia. This is a risky procedure, but it offers a cure for those children who qualify. Other Treatments Antibiotic and vaccine to help prevent infections. Folic acid is a B vitamin that helps build red blood cells. Researchers are also studying other treatments, such as gene therapy Complications 1-iron overload and infection. People with thalassemia can get too much iron in their bodies, either from the disease itself or from frequent blood transfusions. 2- damage to the heart, liver, and endocrine system. 3-an increased risk of infection—especially if they have had a splenectomy. In cases of severe thalassemia, 4- children can develop bone deformities, 5-slowed growth, and heart problems. 6-Thalassemia can cause the bone marrow to expand, which causes bones to widen. This can result in abnormal bone structure, especially in the face and skull. 7-Bone marrow expansion also makes bones thin and brittle, increasing the chance of fractures. 8-Splenomegaly can worsen anemia by reducing the life of RBCs. Some patients may require a splenectomy. 9-Anemia can contribute to a decreased rate of growth. Puberty also may be delayed in children with thalassemia. 10-Heart problems such as congestive heart failure and arrhythmias may be associated with severe thalassemia Nursing management Provide emotional support to the parents; encourage them to express their feelings and concerns and make sure that their questions are answered. Explain all tests and procedures. In addition, follow these steps: Monitor for adverse reactions during packed RBC transfusions, such as fever, chills, and irritability. Make the parents aware of the inherited nature of the disorder so they can seek genetic counseling. Educate the parents on the nature of the disease and the symptoms of low hemoglobin, such as fatigue and paleness, and the risk of failure to thrive. Encourage a normal lifestyle to the extent possible. Provide education about adequate diets, which can reduce the risk of further complications, including anemia and growth problems