Thalassemia is an inherited condition characterized by a deficiency in blood proteins (hemoglobin) or a synthetic abnormality in one or more hemoglobin chains. The oxygen-carrying protein hemoglobin is found in the blood. There are two proteins in it, alpha protein and beta protein. When hemoglobin level is low or when alpha protein or beta protein is absent, red blood cells do not function effectively and last for a shorter time, resulting in a decrease in healthy cells.

Patients who are affected will require blood transfusions on a regular basis for the rest of their lives.

Cause of Thalassemia

Thalassemia is caused by variations in the DNA of hemoglobin-producing cells which is passed from parents to offspring.

Alpha thalassemia is caused due to lack of an alpha-globin chain, whereas beta-thalassemia is caused due to lack of a beta-globin chain.

Thalassemia severity is determined by the number of gene mutations you inherit from your parents. The more mutated genes you have, the worse your thalassemia will be.

Thalassemia is a genetic disease, which means at least one parent must carry the disease.

Symptoms of Thalassemia

Symptoms of Thalassemia vary from type to type and condition to condition. Silent carriers do not have any symptoms. Following are some common symptoms of thalassemia

  • Weakness
  • Slow growth
  • Bone deformation and abnormalities such as the enlarged spleen
  • Pale color
  • Shortness of breath
  • Cold hand and feet
  • Dark urine

People with mild to severe thalassemia frequently learn of their illness in children.

Clinical features of thalassemia

Clinical traits of thalassemia are

  • Anemia
  • Growth failure
  • Hepatosplenomegaly (abnormal enlargement of the liver)
  • Too much iron in the body can cause damage to the heart liver and endocrine system
  • Weak immune system

Diagnoses

When the patient shows mild symptoms of thalassemia several blood tests are taken to diagnose the thalassemia. A Blood test gives information about the number of red blood cells, abnormalities in the shape, and size of blood moreover it is used for DNA analysis.

CBC:

Complete Blood Count (CBC) is a blood test used to detect a variety of blood disorders such as anemia, thalassemia, and leukemia.

Several components are measured in a full blood count test

  • Red blood cells
  • White blood cells
  • Hemoglobin
  • Platelets
  • Hematocrit

Hemoglobin test:

A Hemoglobin test measures the amount of hemoglobin in a blood sample. It helps to diagnose thalassemia. Hemoglobin electrophoresis may detect abnormally shaped and sized red blood cells which is a sign of thalassemia.

DNA analysis:

This test helps in finding if there is any mutation in the alpha or beta gene. It is not routinely done but can be used to diagnose thalassemia.

Treatment

The kind and severity of thalassemia determine the treatment options. Patients with mild thalassemia do not need any treatment but medium or major thalassemia trait treatment is required.

Blood transfusion:

Blood transfusion is a way of providing healthier RBCs to the body. The rate of transfusion depends upon the severity of the disease. Repeated transfusion may lead to an increased level of blood iron that causes great damage to vital organs. Some precautionary measures are taken before doing the first blood transfusion such as vaccination of Hepatitis B is given to the patient also the blood of the patient is typed for ABO antigen and Rh factor.

Transplantation of Bone Marrow:

The most efficient way of treating this pandemic is bone marrow also known as stem cell transplantation. For this purpose, stem cells from a compatible donor are injected into the recipient. This injection produces new cells that travel into the bone cavity via blood and helps in the production of healthier red blood cells. This treatment begins the formation of new and healthier cells in a month. However, it is difficult to find a suitable donor. Also, it shows a high risk of failure that may lead to the death of the patient so it is not recommended for patients suffering from moderate thalassemia.

Splenectomy:

Enlargement of the spleen is a major problem caused by a deficiency of hemoglobin that makes the worst conditions of anemia. This may increase the need for transfusion. Treatment named splenectomy involves the removal of the spleen. This is mostly done in patients that show poor health and symptoms of growth retardation. The main purpose of doing this therapy is to prevent the patient from developing extramedullary hematopoiesis. This treatment helps in improving hemoglobin levels, reduces the number of transfusions, and ultimately reduces the amount of iron accumulation. When the annual transfusion requirement reaches › 200 to 220 mL RBC`s/kg per year then splenectomy treatment is recommended and prescribed to patients.

Medications and supplements:

The Use of medicine and supplements may reduce the number of blood transfusions. Also, oral intake of medicine such as deferiprone or deferasirox may help in the removal of excess iron accumulated in the blood due to repeated transfusions.

Monitoring of supplements such as B12 level and folic acid is important as they are very important for the functioning of normal blood cells.

Diet for thalassemia patient:

  1. Low iron, and low-fat diet
  2. Adequate intake of calcium, folate and trace elements.
  3. Plant-based diet is recommended
  4. Intake of vitamin B is highly recommended
  5. Transfused blood patients should avoid red meat, however Patients with un-transfused blood can eat red meat.
  6. Alcohol consumption should be avoided
  7. Smoking should be discouraged

Care needed by the patient

Everyone longs to live healthier lives. However, healthier life for a thalassemia patient means controlling the disorder along with maintenance of the nutritional requirement. Following are the cares that should be taken by the patient in order to strive with this disease:

  • Complete blood counts and blood iron tests will be required on a regular basis.
  • Every year, tests for heart function and liver function, as well as viral infection testing, are required.
  • Thalassemia patients are vulnerable to many infections, so vaccination can protect them from the risk of getting infected.
  • Support from family, friends, and co-workers too helps the patient to cope with this stress.
  • Exercise helps to maintain a good living style. Though these patients might not be able to do hard exercises but walking and doing light exercise can refresh them.

Can it be prevented

As thalassemia is an inherited disease so for patients with family members having such disease cannot avoid or prevent themselves from it. However, gene therapy treatment can help to reduce the risk of transferring genes into the next generation. Gene therapy can suppress or eliminate the genes from cells that are responsible for such devastating diseases. For families having a lineage of such inherited disease can opt for this.

It can be treated by using different therapies however it takes a lot of time and money to do so. Also, the process of transplantation or blood transfusion is painful too.

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