Thalassemia Types, Signs and Treatment
Thalassemias are genetic blood disorders that are inherited and are later passed down the family tree.
Thalassemias restricts the hemoglobin production in the body which indirectly affects the RBCs. Hemoglobin is the iron rich protein that is present in the RBCs. Haemoglobin is needed for the supply of oxygen to the various regions of the body. It also empties out the carbon dioxide, by taking it to the lungs from where it is exhaled out.
Types of Thalassemia disease:
Hemoglobin A, is a combination of 4 protein chains: Two alpha globin chains and two beta globin chains. The defects in these protein chains lead to two major kinds of thalassemia, namely alpha and beta.
1. Alpha Thalassemia:
The alpha thalassemia involves the HBA1 and HBA2 genes, which is inherited in a mendelian recessive type. Alpha thalassemias would end up reducing the production of alpha-globin which results in the decrease in the production of alpha-globin chains, thereby resulting in an excess of β chains among adults and excess γ chains among the newborns.
2. Beta thalassemia:
Beta thalassemias are due to mutations in the HBB gene on chromosome 11 that inherited in an autosomal-recessive fashion. The severity depends on the type of the mutation. The mutation is either a Thalassemia major if any formation of beta chains is prevented or the thalassemia intermedia when the formation of some beta chain is allowed.
The intensity of the symptoms depends on the severity of the disorder. Lack of oxygen prevails due to insufficient hemoglobin and red blood cells content.
Some of the major signs are:
Enlargement of spleen
Thalassemia symptoms are classified on the basis of mutation:
Alpha thalassemia symptoms:
Alpha thalassemia are silent carriers. The signs of the disorder are subtle and are hardly diagnosed by symptom checker. Lack of alpha globin protein does not affect the hemoglobin and its functionalities.
Beta thalassemia symptoms:
1. Victims of beta thalassemia intermedia have a varied mild to moderate anemia symptoms. The disorder has symptoms similar to sickle cell anemia.
2. Delayed puberty and slow growth: The anemia can affect a child's growth and development very much and also affects the puberty
3. Bone related problems. Thalassemia may cause expansion of bone marrow. Bone marrow is the spongy filling inside bones that is made up of blood cells. During the expansion of bone marrows, the bones become wider than usual. Chances are that they become brittle and break easily.
4. An enlarged spleen: Spleen is an organ that helps in fighting infection and removing unwanted material. For a person with thalassemia, the spleen works very hard resulting in an enlargement spleen thus worsening anemia. Spleen has to be removed when it becomes too large.
Blood transfusion therapy, one of the ways to treat thalassemia major involves blood examination for diagnosis. Splenectomy, iron chelation (as thalassemia minor causes iron deficiency), and allogeneic hematopoietic transplantation therapy is practiced to treat the patients with thalassemia major. Whereas, patients affected by minor thalassemia have no particular treatments. Folic acid is used to treat certain pregnancy related problems caused by anemia.