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THALASSEMIA – Types, Signs and Symptoms, Diagnostic Evaluations and Management

Thalassemia is a group of inherited autosomal recessive blood disorders. In thalassemia, the genetic defect which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin.


  1. Alpha Thalassemia Facts

Alpha thalassemia is a blood disorder that reduces the production of hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body. Alpha thalassemia also occurs frequently in people from Mediterranean countries, North Africa, the Middle East, India and Central Asia. Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. People who have alpha thalassemia trait can have mild anemia. However, many people with this type of thalassemia have no signs or symptoms.


Reduction in the amount of hemoglobin prevents enough oxygen from reaching the body’s tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, more serious complications Beta-Thalassemia

2. Beta thalassemia are due to mutations in the HBA gene on chromosome. It also inherited in an autosomal-recessive fashion. The severity of the disease depends on the nature of the mutation. Mutations are characterized as either beta-thalassemia major if they prevent any formation of beta-chains, the most severe form of beta-thalassemia. Also, they are characterized as beta + or beta – thalassemia intermediate if they allow some beta-chain formation to occur. In either case, there is a relative excess of alpha-chains.


Microscopic examination of the blood, which shows many small, pale and blood cells


Normally, there are no treatments recommended. However, the doctor may suggest taking iron medication if they feel it is necessary. Additionally, splenectomy, bone marrow transplants and chelation therapy are being researched as possible treatments for thalassemia.

Medical Therapy

Medical therapy involves iron chelation. Deferoxamine is the intravenously or subcutaneously administered chelation agent. Deferasirox is an oral iron chelation drug.

Standard Treatments

Blood Transfusions

Transfusions of red blood cells are the main treatment for people who have moderate or severe thalasemias. This treatment gives healthy red blood cells with normal hemoglobin. Blood transfusions allow patient feel better, enjoy normal activities, and live into adulthood. This treatment is lifesaving, but it’s expensive and carries a risk of transmitting infections and viruses (for example, hepatitis). However, the risk is very low in the United States because of careful blood screening

Iron Chelation Therapy

Because the hemoglobin in red blood cells is an iron-rich protein, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, other parts of the body. To prevent this damage, iron chelation therapy is needed to remove excess iron from the body. Two medicines are used for iron chelation therapy.

  • Deferoxamine is a liquid medicine that’s given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects include problems with vision and hearing.
  • Deferasirox is a pill taken once daily. Side effects include headache, nausea (feeling sick to the stomach), vomiting, diarrhea, joint pain, and fatigue (tiredness).

Folic Acid Supplements

Folic acid is a vitamin B that helps build healthy red blood cells. Patient may need to take folic acid supplements in addition to treatment with blood transfusions and iron chelation therapy.

There are two kinds of iron in the diet:

  1. Iron which is present in red meat (meat iron)
  2. Iron which is widely distributed in the diet (non-meat)

Iron chelators such as Desferal and Deferiprone not only bind iron but also some Zinc and excrete it in the urine. The main nutritional sources of Zinc are animal foods (meat and dairy products) and wholemeal cereals. Dairy products like milk, cheese and yoghurt, eggs, etc. contain a lot of Zinc.

In thalassemia, because of the excess iron in the body, there is a higher risk of oxidative damage. The four main antioxidants are vitamin E, vitamin C, carotenoids and flavonoids.

  • Vitamin E is mainly found in vegetable oils such as olive oil and sun flower oil
  • Vitamin C is present in fruit and vegetables
  • Carotenoids are found in carrots, yellow squash, corn, tomatoes, papaya, oranged, and dark-green leafy vegetables. As these foods are also high in vitamin C.
  • Tea and Red wine contain Flavonoids. Tea also inhibits iron absorption


  • Iron overload: people with thalassemia can get an overload of iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to the heart, liver and endocrine system, which includes glands that produce hormones that regulate processes throughout the body. The damage is characterized by excessive iron deposition. Without adequate iron chelation therapy, almost all patients with beta-thalassemia will accumulate potentially fatal iron levels.
  • Infection: people with thalassemia have an increased risk of infection. This is especially true if the spleen has been removed.
  • Bone deformities: Thalassemia can make the bone marrow expand, which causes bone to widen. This can result in abnormal bone structure, especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the risk of broken bones.
  • Enlarged spleen: the spleen aids in fighting infection and filters unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells, and the task of removing these cells causes the spleen to enlarge.
  • Slowed growth rates: anemia can cause a child’s growth to slow. Puberty also may be delayed in children with thalassemia.
  • Heart problems: such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.


Nursing Diagnosis

  • Activity intolerance related impaired oxygen transport
  • High-risk for infection related decreased resistance secondary to hypoxia
  • Altered body image related skeletal changes
  • Altered nutrition: less than body requirement related to inadequate nutritional intake and anorexia
  • Ineffective management of therapeutic regimen related to lack of knowledge about appropriate nutrition and medication

Nursing Interventions

  • Assess amount of activity that cause fatigue or dyspnea
  • Assessed patient with activities as needed
  • Provide oxygen therapy as ordered
  • Instruct pt to space rest with activities
  • Avoid rubbing, powder, deodorant, lotion or ointment (unless prescribed) or application of heat and cold to treated area
  • Encourage pt to keep treated area clean and dry, bathing area gently with tepid water and mild soap
  • Encourage wearing loose-fitting cloths
  • Advise patient to protect skin from exposure to sun, chlorine, and temperature extremities.
THALASSEMIA – Types, Signs and Symptoms, Diagnostic Evaluations and Management
THALASSEMIA – Types, Signs and Symptoms, Diagnostic Evaluations and Management


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