الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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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.