RESUMO
Regional variations in the incidence of alpha -thalassaemia have been reported from Saudi Arabia. In a recent study, we observed that approximately 6-7% of the Saudi Arabia National Guard [SANG] newborn population had very low mean corpuscular volume [MCV] [= 100 FL] at birth. The main objective of this study was to determine if the low MCV detected at birth could be of relevance in the detection of alpha thalassaemia at birth. All the cord blood was subjected to haemoglobin [Hb] electrophoresis and levels of Hb Bart's were estimated by CM-52 microcolumn chromatography. DNA analyses were performed on 31 [15 male 16female] randomly selected newborns with low MCV [= 100fL] and 46 neonates [24 male; 22 female] with normal MCV [>100 fI]. The restriction analyses data showed that 28 of 31 [90%] with low MCV [= 100 FL] compared with 3 of 46 [7%] had alpha thalassaemia. Of the above 28 neonates, 17 were heterozygous for alpha thal 2 [alpha 3.7 / alpha alpha rightward deletion]. BgI II restriction fragment in one newborn with low MCV suggested alpha 4.2 deletion [leftward]. The remaining 10 newborns were homozygous for alpha thal 2 gene [alpha 3.7 / alpha 3.7]. our results therefore suggest that low MCV [= 100 Fl] together with decreased mean corpuscular haemoglobin [MCH] [= 32pg] at birth is a useful diagnostic parameter for alpha thalassaemia in newborns and it is recommended that all Saudi neonates should have a complete blood count at birth to alert the physician to the possibility of having alpha thalassaemia and consequently saving the newborns from inappropriate therapy