• M E Pembrey, D J Weatherall, J B Clegg, C Bunch, and R P Perrine.
• Br. J. Haematol. 1975 Feb 1; 29 (2): 221-34.

AbstractThe haemoglobin (Hb) patterns of 345 Shiite Saudi Arab cord bloods were examined by alkaline starch-gel electrophoresis. A fast-moving component, identified by structural analysis as Hb Bart's, was found in 52% of cases, the highest incidence of this variant yet recorded. The levels of Hb Bart's ranged from 0.5 to 16% of the total haemoglobin. The relative rates of synthesis of the alpha, beta and gamma-chains, measured by [3H]leucine incorporation, were estimated in 12 newborn Arab infants. There was an excellent correlation between the amount of Hb Bart's and the alpha/non-alpha-globin-chain production ratio. Furthermore there was a significant correlation between the level of Hb Bart's and morphological abnormalities of the red cells and the mean cell haemoglobin (MCH). These findings indicate that elevated levels of Hb Bart's in this population are due to the presence of alpha thalassaemia. The absence of hydrops fetalis and the rarity of Hb-H disease despite the intense inbreeding in this population, points to an alpha-thalassaemia genotype that is, in terms of phenotypic expression, intermediate between the heterozygous state for alpha-thalassaemia I and Hb-H disease. A possible molecular basis for this genotype is suggested.

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