Thalassemia Case Study

Abstract: Thalassemia is among the commonest inherited disorders in developing and low-income countries. The cure is very costly and requires long-term management. The only way to solve this problem is by preventing more birth of thalassaemia major cases by a screening program. Accurate diagnosis of alpha-thalassemia requires DNA analysis, which cannot be applied effectively in underprivileged countries. Therefore, a simpler test should be used as a screening tool and the definitive cut-off level is critical for the success of the screening program. A retrospective observational study was carried out on peripheral blood parameters of alpha-thalassaemia carriers in Malaysia. Results obtained were compared to the DNA study. The aim of this study

It is a genetic disorder that is inherited from both parents who are carriers of the disease. It is characterized by anaemia with small and pale red blood cells (hypochromic microcytic anaemia) due to reduced production of one or more globin chains in the red blood cells. The consequences are ruptured of red blood cells in the spleen (Fucharoen, 1987; Weatherall, 1997). The clinical severity of thalassemia varies greatly depending on the number of genes affected (Cornelis, 2010). Approximately 7.0% of the world’s population is thalassaemia carrier and an estimated 300,000 babies are born each year with this disorder. More than 80% of these births occur in low or middle-income countries. These countries have limited resources where priority tends to be given to combat high rates of infant and child mortality from infectious diseases and malnutrition (Weatherall, 2001). As a result, thalassaemia receive little

Based on this fact, the primary screening method for all forms of thalassemia relies on red blood cell parameters index cut-offs, which involves an accurate blood count using an electronic blood cell counter. A commonly used approach consisted of a complete blood count to assess the MCV and the MCH (Metcalfe, 2007). The finding of a normal MCV (80fL) in combination with a normal MCH (27pg) would rule out most cases of thalassemia and would require no additional thalassemia testing. Individuals with MCV of less than 80fl and MCH of less than 27pg should be examined further to confirm or exclude the diagnosis of both alpha and beta-thalassemia (The Thalassemia Working Party of the BCSH General Haematology Task Force, 1994; A Working Party of the General Haematology Task Force of the British Committee for Standards in Haematology, 1998). Some screening programs rely on the identification of low MCV alone in the absence of iron deficiency (Ronald, 2006; Ashraf, 2004). In Malaysia, individuals with MCH of less than 27pg and low haemoglobin will be investigated for iron deficiency anaemia which is also a common condition with low MCH. For those with MCH of less than 27pg and normal haemoglobin, the next step is to quantitate the haemoglobin fractions (HbA2 and HbF) using hemoglobin electrophoresis or High Performance Liquid Chromatography (HPLC) and a