Background and Purpose: We sought to determine the crude incidence rate, patterns, and risk factors associated with different types of stroke in a defined Saudi population.Methods: Records of 500 (342 male, 158 female) consecutive patients with first-ever stroke admitted from
To define the natural history of sickle cell anaemia a cord blood screening programme was initiated and during the first 3 years a total of 129 newborns with FS phenotype were detected, of whom 83 infants were followed up regularly. Forty-three of them had attained the ages of between 1 and 3 years and the analysis of their data revealed that in 21 of 43 cohort children (14 FS and 7 FS + Barts) who had almost identically raised levels of haemoglobin F, the clinical manifestations of the disease appeared to be influenced by the size of the RBC, with the microcytic group having a relatively milder clinical course as compared with the normocytics. Similar observations were made in about 50% (47/93) of non-cohort older children and adults with sickle-cell anaemia, suggesting that alpha thalassaemia in combination with increased levels of fetal haemoglobin was probably an important predictor of the clinical severity in patients with sickle-cell anaemia in the Eastern Province of Saudi Arabia.
Sixty-five of 3261 (2%) Saudi neonates were found to be severely G6PD-deficient during a cord blood screening programme conducted from April to December, 1992. However, at the time of molecular studies, the blood samples were available from only 20 randomly selected children, aged from 1 to 6 years. DNA analyses showed that seven (three boys, four girls) of these 20 (35%) had G6PD Aures (nt 143 T - > C), a variant associated with favism which was recently reported in an Algerian. Twelve carried the G6PD Mediterranean (563 T) mutation, and in one child the mutation remained unidentified. The medical records of these children showed that all who had G6PD Aures, including a premature baby, were jaundiced during the 1st week of life, but only six full-term infants had moderate-to-severe hyperbilirubinaemia. Two of seven babies had seizures and one of these two developed kernicterus, in spite of timely blood transfusion.
A nucleotide change at a splice junction in the human f8-globin gene is associated with ,0-thalassemia Communicated by Elvin A. Kabat, April 6, 1981 ABSTRACT 9-Thalassemia is a heterogeneous group of disorders associated with absence of -globin. In a survey of DNAs from patients with #'-thalassemia of diverse ethnic origins, a change at the splice junction at the 5' end of the large intervening sequence (IVS 2) of the human P-globin gene has been found in
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