Thalassemia

Types Of Thalassemia Alpha Thalassemia The alpha thalassemia is caused by a decrease in production of alpha globin chains due to a deletion or mutation of one or more of the four alpha globin genes located on chromosome 16. Alpha gene mapping can be obtained to determine the specific mutation. The alpha thalassemia can be generally categorized as: Silent Carrier Alpha Thalassemia Trait Hemoglobin H disease Hemoglobin H-Constant Spring Alpha Thalassemia major Alpha Thalassemia trait in a parent is often dicovered after the birth of an effective child. Beta Thalassemia Minor/carrier/trait : They appear perfectly healthy, however where two carriers decide a family there is one in four chance that their child could inherit their carrier genes and develop Beta Thalassemia Major, one in four of a child being normal and 50% chance of the child also being a carrier. Thalassemia Intermedia : A clinical expression for a condition between Carrier and Major .They often run a hemoglobin of 7-9 g/dl. They need transfusions only at times as their Hb drops with infection or any stress on the body. Especially during pregnancy or leg ulcers(seen with chronic hemolytic anemias ). Thalassemia Major : This condition requires intensive medical care,including 2-3 weekly transfusions and desferrioxamine injections, infused daily,for 8-12 hours at home. Associated with chronic diseases such as diabetes, growth and puberty failure and early menopause and blood transfusion complications such as hepatitis C, hepatitis B and HIV infections. The treatment and management is a financial and psychological burden on the patient and family. Thalassemia is a genetic disease. Thalassemia minor is not always actively treated, rather frequently monitored. While many of those with minor status do not require blood transfusion therapy they still present at risk of iron overload, particularly in the liver. Increased gastrointestinal iron absorption is seen in all grades of beta thalassemia, and increased red blood cell destruction by the spleen due to ineffective erythropoiesis further releases additional iron into the bloodstream.A serum ferritin test should be done to check their iron levels and guide them to further treatment if necessary. Thalassemia minor, although not life-threatening on its own, can affect quality of life due to the effects of a mild to moderate anemia. Studies have shown that thalassemia minor often coexists with other diseases such as asthma,and mood disorders, and can cause iron overload of the liver and in those with non-alcoholic fatty liver disease lead to more severe outcomes.