Introduction to Thalassemia
Thalassemia is an inherited autosomal recessive blood disease. "Inherited" means that the disease is passed through the genes from parents to children. Genes control how the body makes the hemoglobin. When these genes are missing or altered, thalassemia occurs.
Thalassemia causes a decrease and defective production of hemoglobin which is an iron-rich protein found inside all red blood cells (RBCs). Hemoglobin transports oxygen throughout the body and also carries the waste gas carbon dioxide from the body to the lungs from where it's exhaled out. The defect of hemoglobin production in thalassemia causes abnormalities in the formation, size, and shape of RBCs and hence causes their destruction. Thus, people with thalassemia often have a reduced number of RBCs in the bloodstream (anemia), which can affect the transportation of oxygen to body tissues.

Types of Thalassemia
Thalassemia is an autosomal recessive disease. The human body has 23 pairs of chromosomes in each cell which are:-
Autosomes (22 pairs) - Not sex determining chromosomes. There are equal number of copies of autosomes in both males and females. They determine the physical characteristics of an individual.
Sex chromosome (1 pair) - There is only one pair of Sex chromosome in each human. XX in females & XY in males.
For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. People who have the disease are called Thalassemia Major.  They get two faulty CF genes - one from each parent. The parents carry one copy each of the faulty gene, but they typically do not show signs and symptoms of the condition themselves.
Thalassemia minor occurs if the person receives the defective gene from only one parent. Persons with this form of the disorder are Carriers of the disease and usually do not have symptoms other than mild anemia. However, they can pass the faulty genes on to their children.

The two major forms of the disease are

  • Alpha (α)
  • Beta (β)  

Normal hemoglobin is composed of two chains each of α and β globin. The thalassemias are classified according to which chain of the hemoglobin molecule is affected. In α thalassemias, production of the α globin chain is affected, while in β thalassemia production of the β globin chain is affected.
Patients with thalassemia minor usually do not require any specific treatment. Treatment for patients with thalassemia major includes chronic blood transfusion therapy, iron chelation or surgical removal of the spleen.

Signs / Symptoms of Thalassemia
People with thalassemia major may experience the following:

  • Stillbirth 
  • Bone deformities in the face
  • Growth failure
  • Yellow skin (jaundice)
  • Paleness
  • Headaches
  • Fatigue
  • Shortness of breath
  • Spleen enlargement

Patients with thalassemia minor usually do not show any other symptoms other than mild anemia.

Related Tests to Thalassemia

  • Physical exam revealing a swollen (enlarged) spleen
  • Hb Electophoresis / Hb A2
  • Blood smear (also called peripheral smear and manual differential)
  • Complete blood count (CBC)
  • Iron studies such as iron, ferritin, unsaturated iron binding capacity (UIBC), total iron binding capacity (TIBC), and percent saturation of transferrin
  • Hemoglobinopathy (Hb) evaluation
  • DNA analysis