Alterations in Oxygenation Thalassemia

What is thalassemia? Thalassemia is a group of inherited blood disorders that interfere with the body's normal production of a substance called hemoglobin. Hemoglobin is found in red blood cells and carries oxygen from the lungs to the body's tissues. Normal hemoglobin is made of two substances.

HEMOGLOBIN

HEMEMOGLOBIN Heme, the nonprotein portion of hemoglobin, contains iron and gives the blood its color. It is the part of the molecule that attaches to oxygen. Globin is the group of four protein molecules that bind to the iron in heme molecules to form hemoglobin. The two main types of globin proteins are called alpha and beta.

ETIOLOGY Thalassemia is caused by a defect in one or more of the genes that hold the instructions for producing hemoglobin. It is an inherited blood disorder, passed from parent to child. To have the disease, you must inherit a gene for the disease from both parents. Most people who inherit thalassemia are Asian, Filipino, Mediterranean, Middle Eastern, or, less frequently, of African descent.

Types of Thalassemia α thalassemia (Alpha) occurs when one or more of the four genes that hold the instructions for making alpha-globin are missing or damaged. Alpha thalassemia mainly affects people from southeast Asia, China, and the Philippines, although it occurs in many populations throughout the world and sometimes is seen in people of African descent.

Four Subtypes of Alpha Thalassemia silent carrier - alpha-globin gene is missing or damaged – no anemia – may be passed to child. alpha thalassemia minor or alpha thalassemia trait - alpha-globin genes are missing or damaged – mild anemia not needing treatment. H disease - three alpha-globin genes are missing - mild to moderately severe anemia – less stable heavy hemoglobin (Hgb) removed by the body faster than normal Hgb - may need treatment with blood transfusions during periods of stress on your body, such as infection alpha thalassemia major - all four alpha-globin genes are missing - fetus will be stillborn or the child will die shortly after birth – also called hemoglobin Barts

Types of Thalassemia ß-thalassemia (Beta) is the most common form of thalassemia. It occurs when one or both of the genes that hold the instructions for producing beta-globin are inactive or only partly active. It mainly affects people from the region around the Mediterranean Sea (such as Greeks and Italians) and, less often, people of African or Asian descent.

Subtypes of Beta Thalassemia beta thalassemia minor or beta thalassemia trait - carry the genetic trait for thalassemia or have one damaged beta-globin gene beta thalassemia intermedia - moderate anemia needing to be treated with blood transfusions during periods of stress on your body (such as infection). beta thalassemia major or Cooley's anemia - severe anemia who may not live into adulthood without aggressive treatment (Many don’t survive beyone twenties.).

Beta Thalassemia Major or Cooley's anemia Symptoms of anemia usually develop within 6 months of birth. If the child starts receiving blood transfusions early and continues to receive them throughout life, he or she is likely to live longer. Death is usually a result of damage to organs, such as the heart or liver, caused by lack of oxygen or iron overload from blood transfusions.

Symptoms of Thalassemia Mild thalassemia usually does not cause any symptoms. However, symptoms of anemia may develop in more severe forms of the condition and may include: Weakness. Fatigue. Lightheadedness. Pale skin. Dark urine. Decreased appetite and weight loss (poor growth in a child). Rapid heartbeat. Shortness of breath during exercise

Diagnosis A physical examination and complete medical history are usually the first steps in diagnosing thalassemia. Tests used to help confirm a diagnosis of thalassemia include: Complete blood count (CBC) and blood smear. Gene test. Iron level test, to determine whether iron-deficiency anemia is present. Blood test that measures the amounts of different types of hemoglobin (hemoglobin electrophoresis), to help determine exactly what type of thalassemia is present. A complete blood count (CBC) test on other members of your family (parents and siblings), to determine whether they may also have thalassemia.

Symptoms Mild thalassemia usually does not cause any symptoms. Symptoms of anemia may develop in people who have more severe forms of the condition and may include: Weakness. Fatigue. Lightheadedness. Pale skin. Dark urine. Decreased appetite and weight loss (poor growth in a child). Rapid heartbeat. Shortness of breath during exercise.

Symptoms Less common symptoms of severe thalassemia include: Headache Abdominal pain Ringing in the ears Chest pain Slight fever A sore, smooth tongue Exercise intolerance

Symptoms Children with a more severe form of thalassemia (beta thalassemia major, or Cooley's anemia) usually develop symptoms of anemia within the first few months of life. Infants may have developmental delays (failure to thrive), feeding problems, frequent fevers, diarrhea, and other gastrointestinal problems. Without early treatment, a child may die or develop severe problems, such as: Deformities of the bones in the face caused by the bone marrow expanding in the bones. This may cause a protruding forehead (frontal bossing). Enlarged liver and spleen. Brittle, weak bones (particularly the long bones in legs and arms and the bones of the spine).

Nursing Diagnoses Activity level Body image disturbance Risk for Infection Risk for Injury Knowledge Deficit Anxiety Grieving

Medical Treatment Depends on the severity of the condition: Mild thalassemia, the most common form, does not require treatment. Moderate thalassemia may be treated with folic acid supplementation and blood transfusions. Severe thalassemia may be treated with: Multiple Blood transfusions. Folic acid supplements. Splenectomy Bone marrow transplant, in severe cases.

Medical Treatment Very rare forms of thalassemia may cause organ damage that can result in death. Such severe damage can occur when insufficient oxygen reaches the organs. Iron overload caused by treatment with repeated blood transfusions also may damage organs, especially the liver. The chelating medication deferoxamine mesylate may be used to relieve iron overload. It attaches to the iron and helps eliminate it from the blood system.

Chelation Iron Chelation Therapy –the medication helps to pull iron from tissues (Deferpxomine) Eliminates excess iron so the person doesn't have as many side effects of too much iron in tissues. Prophylactic A/B, folio acid supplement.

NURSING Teach to avoid injury Encourage rest, good hygiene, and nutrition Avoid infectious people, contact sports Watch for assessment bronzy colored skin (iron + jaundice) Encourage patient/family to join support groups Teach family about disease – ,s/s: Chelation therapy - sometimes done at home with deep IM injections, Dietary - low FE intake Management - Instruct the patient to expect eventual multiple blood transfusions to control anemia Encourage genetic counseling for future pregnancies

Complications spleenomegaly requiring splenectomy skeletal changes (thick cranial bones,enlarged maxilla, prominent facial bones-Frankenstein appearance), mongoloid appearance, malocclusion, crowded and crooked teeth (buck teeth) weak bones due to osteoporosis (Prone to spontaneous fractures) cardiac abnormalities (dysrhythmmias, CHF,and fibrotic cardiac muscle) hepatomegaly (cirrhosis with jaundice = yellow from bilirubin mixed with iron = bronze skin coloring) bronze skin discoloration due to retaining iron, gall bladder disease requiring cholecystectomy endocrine problems (Diabetes Mellitus) due to iron deposits affects on pancreas, growth retardation and delayed sexual maturation (small genitalia, deceased pubic hair) Blood abnormalities: fragile RBCs, decreased HCT, Hgb content, Reticulocytes, usually have adult Hgb but in infant, look for HgbF, folio acid deficiency

References WebMD Health: http://www.webmd.com/hw/anemia/ Primary Medical Reviewer Adam Husney, MD - Family Medicine Specialist Medical Reviewer Martin Steinberg, MD - Hematology Last Updated February 25, 2005 http://www.webmd.com/hw/anemia/hw184662.asp WebMD Health: http://www.webmd.com/hw/anemia/