Frequency of β Thalasseamia Patients and Their Relatives Referred to Wad Madani Pediatric Hospital , Aljazeera State

Abstract

This was a descriptive analytical study conducts in Aljazeera State during November 2008 to January 2009 was carried out in patients suffering from β thalssemia and their relatives in Wad madani pediatric teaching Hospital, to estimate the frequency of β thalssemia in patients and their relatives . 70 persons (30 males and 40 females), their ages ranged between 2 to 80 years was enrolled . Five mL of venous blood was collected from each person, 2.5 mL into EDTA containers, for blood films, full blood count (CBC) using electronically method (Sysmex Kx 21n.fully automated hematologyical analyzer), and hemoglobin F quantification (Betke et al. method), were performed on all subjects, and 2.5mL in to plain containers for serum ferritin , and serum iron using (A25 automated system), were performed only on microcytic hypochromic samples. A reduced mean corpuscular volume (MCV) of <80 fl with reduced mean corpuscular heamogloin (MCH) of <27, and elevated HbF (mean 4.6) used as a screening test for thalassaemia in this population, followed by iron studies to the microcytic hypochromic samples (mean of iron 76.08 and ferritin 134.86), to confirm the diagnosis. Using this approach, 43 cases (61.4%) were diagnosed of β-thalassaemia trait, while 22 (31.5%) were normal and 5 cases (7.1%) was already diagnosed as β- thalassaemia patients.