Laboratory on thalassemia which is a public health problem

Abstract

Thalassemia which is also known as Mediterranean Anemia, is the most commonly observed hereditary blood disease in our country and in the world. This disease group which shows autosomal recessive transmission is a heterogeneous one group of disease which is characterized with hypochromic microcytic anemia that develops in the result of inherited defect of one or more of the hemoglobin chains. Thalassemia occurs either when hemoglobin chain or chains which are described as a,β,?,d are produced in few amount or when they are not produced at all. Absence of a-chain production or its insufficient production leads to a-Thalassemia; and the absence of β -chain production or its insufficient production leads to β-Thalassemia. While the severity of clinical findings in thalassemia changes according to the amount of defect on globulin chains and the type of chains that is affected; it can appear with a severe clinical progress that requires continuous transfusion treatment, from a carrier case with asymptomatic progress. Wide range of laboratory tests take part in the diagnosis and follow-up of Thalassemia. While whole blood count, peripherical smear and clinical chemistry tests are required parameters for the diagnosis of hypochromic microcytic anemia; high performance liquid chromatography and electrophoresis tests are used for the diagnosis of thalassemia. Although thalassemia can be prevented with genetic counseling after the detection of carriers with laboratory screening programs and although it can be diagnosed before birth; every year at least 60.000 thalassemia patients are born in the world. It is reported that there are about 1.300.000 thalassemia carriers and about 4.500 thalassemia patients in Turkey. For this reason, thalassemia is a public health problem for Turkey. The diagnosis of thalassemia with the correct laboratory tests at a right time decreases inappropriate treatments like redundant use of iron. With the genetic counseling to the carrier families it is aimed to informed about alternative treatments for their children who have the disease and for their next birth plans how to use Preimplantation genetic diagnosis (PDG)technique. When health problems that patients encounter throughout their life, complications in the treatment of patients and high treatment costs ara analyzed, PGD is a technique which has critical importance, it assists to make families have healthy children.In this review it is evaluated that in thalassemia what are the old and new laboratory parameters that are used in discrimination of iron deficiency anemia and other anemias; besides how they are used.