Thalassemia

This is one of the most challenging diseases being faced by mankind with virtually no permanent treatment for those who suffer from it. The only real treatment is periodical replenishment of blood through transfusion. Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin, a protein found in red blood cells that are responsible for carrying oxygen throughout the body. The body contains more red blood cells than any other type of cell, and each has a life span of about 4 months. Each day, the body produces new red blood cells to replace those that die or are lost from the body. With a Thalassemia, the red blood cells are destroyed at a faster rate, leading to anemia, a condition that can cause fatigue and other complications. Thalassemias are inherited conditions they're carried in the genes and passed on from parents to children. People who are carriers of a Thalassemia gene show no Thalassemia symptoms and might not know they're carriers. If both parents are carriers, they can pass the disease to their kids. Thalassemia is not contagious. While there are many different types of thalassemias, the main two are: Alpha Thalassemia: when the body has a problem producing alpha globins Beta Thalassemia: when the body has a problem producing beta globins When the gene that controls the production of either of these proteins is missing or mutated, it results in that type of thalassemia.

Causes of Thalassemia
Thalassemia is directly linked to genetics and how the genes that affect hemoglobin production are inherited. People with moderate to severe forms received variant genes from both parents. People who are carriers of the disease received variant genes from one parent and normal genes from the other parent. Regardless of the causes of thalassemia, treatment options are available for all forms of the disease.

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy). Children born with thalassemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life. Other symptoms can include: o Bone deformities in the face o Fatigue o Growth failure o Shortness of breath o Yellow skin (jaundice) o Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.

Treatment
Treatment for thalassemia major often involves regular blood transfusions and folate supplements. If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful. Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body. Bone marrow transplant may help treat the disease in some patients, especially children.