THALASSEMIA comes from the Greek word” thalassa” for sea which means anemia of the sea. It is also called Cooley’s Anemia for the pediatrician from Detroit, Michigan, Dr. Thomas B Cooley, who described the disease in 1925.

WHAT IS THALASSEMIA. The Tularemia's are a group of genetic blood diseases. Thalassemia is the most common inherited single gene disorder in the world. In Thalassemic patient, a mutation or deletion of the gene that control globins production occurs. This leads to a decreased production of the corresponding globins chains & an abnormal hemoglobin ratio. This abnormal ratio leads to decreased synthesis of hemoglobin & the expression of Thalassemia. The globins that is produced in normal amounts winds up in excess & form red cell aggregates or inclusions. These aggregates become oxidized& damage the cell membrane, leading to heamolysis, ineffective erythropoiesis, or both. The quantity & properties of these globins chain aggregates determine the characteristics & the severity of the Thalassemia.

THALASSEMIA MINOR. In Thalassemia minor the blood count may be a little lower than other people or patient’s own age & sex, but this produces no symptoms. The person is born with this condition & will have it for the whole life. There is no need for treatment & most people who have inherited it are not sick & probably do not know they have it. A mild form of Thalassemia minor may be mistaken for? iron deficiency anemia. Iron medications are not usually necessary & will not help anemia. They could even be harmful if taken over a long period of time. If such person marry another person who does not have Thalassemia minor, their children’s may have Thalassemia minor. If two persons with Thalassemia minor marry, some of their children’s may have Thalassemia major, so they must think if they want to take this risk in planning their family. THALASSEMIA MINOR DOES NOT CHANGE IN TO THALASSEMIA MAJOR.

THALASSEMIA MAJOR. It occurs when a person inherits two Thalassemia genes, one from each parent. Both parents must have Thalassemia minor. When two Thalassemia minor marry, there is a 25% chance that any pregnancy can result in a child with Thalassemia major. Two of four children will have Thalassemia minor & 1 of 4 will be normal. These chances are present with each pregnancy come families have had only one ill child, while others have had all of their children’s affected. An infant with Thalassemia major appears normal at birth. If a child is well for the first five years of life, a diagnosis of Thalassemia major is unlikely. The double of two Thalassemia genes causes an anemia that is so severe that regular blood transfusion must be given throughout life. A new born with Thalassemia major appears normal at birth. As they grow, they exhibit paleness & fussiness. Weakness & slow growth appears in the first or second year of life. The abdomen may swell due to enlarged liver & spleen. Changes occur in the appearance of face & head. The eyes appear slanted & the check bones become prominent. Treatment for Thalassemia major involves blood transfusions that must be given every 4 to 6 weeks to sustain life. Complications that may arise from regular blood transfusions include an overload of iron buildup in vital organs causing diabetes, liver diseases & heart failure. The spleen may become so enlarged or hyperactive that it has to be removed surgically. Today a medication called desferoxamine (desferal) can remove. Iron from the body, but it must be given by slow infusions under the skin or in a vein over 10 to 12 hours 5 to 7 times a week using a battery driven pump. New oral forms or this drug are under trial. With transfusions & regular use of desferal their life expectancy has been greatly improved with patients reaching there & even beyond. Management of Thalassemia is not enough. Researches are investigating two potentially curative treatment bone marrow. Transplantation & gene therapy. Both method have shown promise.