A genetic hemo-disorder, thalassemia is a condition in which a person is not able to produce enough hemoglobin and is heavily anemic. An essential component of the blood, hemoglobin is found in red blood cells and is instrumental in carrying oxygen to all the parts of our body. When there is a deficiency in hemoglobin, there is a lack of oxygen supply and that negatively affects the functioning of our organs. 

Thalassemia is the most common and vulnerable type of hemoglobinopathies with a hereditary transmission. Depending on the kind of defects in the protein chains, Thalassemia has been classified into two major types, alpha Thalassemia and beta Thalassemia.

Symptoms

Normally the symptoms are not revealed until 6 months in case of the newborn babies suffering majorly from with beta-thalassemia and some types of alpha thalassemia. The reason is the fetal hemoglobin in their blood. It is after 6 months that the fetal hemoglobin is replaced with the normal hemoglobin and the first symptoms become visible. Thalassemia is typically characterized by the following symptoms:

• Paleness of the skin or jaundice
• Fatigue and weariness
• Pain in the chest and head
• Cold hands and feet
• Breathlessness
• Muscle cramps in the legs
• Fast paced heart beat
• Poor appetite
• Stagnant growth
• Poor immunity leading to contracting infections
• Skeletal deformities may also result as the body would naturally try to produce more bone marrow

Patients suffering from another variant of Thalassemia, Hemoglobin H are more likely to be susceptible to gallstones and an enlarged spleen. If untreated, thalassemia can lead to complications that lead to multiple organ failures.

Treatment

The only streamlined treatment to thalassemia is regular blood transfusions. But the treatments may differ according to the type of thalassemia and its severity.

• Blood Transfusion: Although with regular blood transfusions, people suffering from thalassemia can lead a normal life, still medical science has to devise a permanent cure for this disease. Blood transfusion can certainly replenish the lower levels of hemoglobin and increase the red blood cells count. Patients with major condition require almost 8 to 12 blood transfusions in a year while those with minor conditions will need up to eight transfusions each year.
• Iron Chelation: With heavy blood transfusions, the risk of accumulating large deposits of iron in the bloodstream is inevitable. Too much of iron in the blood can damage the heart and also impact the other vital organs negatively. Patients have prescribed deferoxamine intravenously or deferasirox orally. Folic acid supplementary intake is also advised to the patients who undergo blood transfusions on a regular basis to aggravate development of the red blood cells
• Stem Cell or Bone Marrow Transplant: As an effective treatment, the bone marrow or stem cell transplant can help in most cases. Bone marrow is important in producing red and white blood cells, hemoglobin and blood platelets
• Surgical Procedure: In case of any bone abnormalities, a surgical procedure might prove to be efficacious
• Gene Remedy: Investigations are under process by the scientists to develop a genetic cure procedure for the patients suffering from thalassemia. Tentative possibilities include the insertion of a normal beta-globin gene into the bone marrow of the patient or use certain drugs to revive the genes that produce fetal hemoglobin that is present in the first 6 months of infancy

Diagnosis

Thalassemia in children may be diagnosed by the time the child is 2 years of age. However, thalassemia carriers may not be diagnosed until they have a child who is suffering from thalassemia. Only blood tests can determine whether a person is a carrier of thalassemia or not. The following tests can determine the extreme levels of thalassemia in a patient:

• Complete Blood Count Check (CBC): The complete blood count check can detect the hemoglobin level and also show the number of red blood cells
• Reticulocyte Count: This determines the pace in which red blood cells, or reticulocytes, are produced and released by the bone marrow. Reticulocytes usually take approximately 2 days to mature into red blood cells. Usually, 1 to 2 percent of RBCs are reticulocytes in a healthy person.
• Iron Test: Iron test diagnoses the reason for anemia. However, thalassemia is not a result of iron deficiency.
• Genetic Testing: Thalassemia can be detected by genetic test. It will help the doctor to know whether it is a thalassemia or a faulty genes disorder
• Prenatal Testing: This test can pre-determine whether a fetus has thalassemia, and how severe it is. This test has further two variants:
  • Chorionic Villus Sampling (CVS): In this, a piece of placenta is removed for testing, usually around the 11th week of pregnancy
  • Amniocentesis: In this, a small sample of the amniotic fluid is taken for testing, usually during the 16th week of pregnancy. Amniotic fluid is the fluid that encompasses the fetus

Complications in Thalassemia

Thalassemia can bear certain complications such as the following:

• Iron Deposit Overload: As already discussed above large iron deposits can be a cause of recurring blood transfusions or the disease itself. Too much of iron in the blood elevates the risk of hepatitis, fibrosis or cirrhosis of the liver. The pituitary gland may also be affected leading to delayed adolescence. The growth may be slowed followed by diabetes and an underactive or overactive thyroid gland at a later stage. The risk of arrhythmias, or abnormal heart rhythms, and congestive heart failure can also not be undermined due to high iron content in the blood.
• Alloimmunization: It is extremely important that the exact blood type is infused in the patient’s body during transfusion or else the immune system will not let the new blood to get absorbed in the body and will reciprocate to it by trying to destroy it. 
• Enlargement of the Spleen: In thalassemia, it is possible that the red blood cells will have an abnormal shape and the spleen would be unable to recycle them. As a result the cells deposit in the spleen and enlarge it. An enlarged spleen is overactive. It starts destroying the healthy blood cells that the patient receives during transfusions. In such cases, a patient may have to undergo a splenectomy, surgical removal of the spleen but it might cause other complications.
• Infection: The removal of the spleen leads to certain infections and frequent transfusion may lead to certain blood-borne diseases.
• Bone Deformities: In some cases as the bone marrow expands, the bone enclosing the marrow deforms in shape. The bones become brittle and are prone to fracture easily.

Factors Affecting Cost of Treatment

The following are the primary factors that determine the cost involved in treating thalassemia:

• Hospital that patient chooses for his/her treatment
• Fees for the doctor/physician
• Cost of medicines and injections
• Cost of tests and diagnostic procedures
• Cost of surgery (if required)
• Cost of prosthesis (if required)
• Cost of follow-up care 
• Cost of blood transfusions and other therapies