الفهرس | Only 14 pages are availabe for public view |
Abstract It is estimated that in excess of 300 000 children are born each year with a severe inherited disorder of hemoglobin and that approximately 80% of these births occur in low- or middle-income countries. As these countries go through an epidemiologic transition, with a reduction in childhood and infant mortality due to improved public health measures, babies who would have previously died of these diseases before they were recognized are now surviving to present for diagnosis and treatment. Hence, they are presenting an increasing global health burden. The most common mutations in Egyptian children with beta thalassemia were IVS I-110(G>A) 48%, IVS I-6(T>C) 40%, IVS I-1(G>A) 24%, IVS I-5(G>C)10%, IVS II-848 (C>A) 9%, IVS II-745(C>G) 8%, IVS II-1(G>A) 7%. β-Thalassemia major (B-TM) is a serious health problem in which children need regular blood transfusions from a very young age to survive. They also need to receive iron chelation therapy to remove excess iron from their bodies, which imposes serious risk on their health and quality of life (QOL). B-TM patients had a poor QOL; high hemoglobin level and low iron overload were associated with improved QOL scores. β-Thalassemia trait (BTT) often shows microcytosis, a normal or an increased red blood cell (RBC) count, and an elevated level of HbA2, which provide the basis for laboratory screening. BTT is an important differential diagnosis of iron deficiency anemia (IDA). The cutoff values of MCV 73 fl or less, RBC count above 5 × 10 6 /mm 3, and red blood cell distribution width 14.5% or less were suggested to be associated with a high probability of BTT. Red cell distribution width (RDW) is an automated laboratory determination of red cell anisocytosis. Evaluation of RDW as screening test to detect microcytic anaemia had sensitivity of 71.42% and specificity of 40%, Evaluation of RDW as a screening test for IDA had sensitivity of 67.9% and specificity 25%. It was found uniform increase in RDW in all cases of microcytosis. It is concluded that RDW adds useful but limited information in classifying microcytic anaemia. |