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Biomedical subjects

D Weatherall

Publications and source records attributed to D Weatherall.

14 recordsLinked to original sources
PubMed1992

Genetic control of diabetes mellitus.

Genetic inheritance predisposing individuals to diabetes mellitus was discussed in this work group. The two forms of the disease, Type 1 (insulin-dependent) and Type 2 (non-insulin-dependent) were discussed separately since the pattern of inheritance and genes involved appear to be distinctly different. Within these subtypes there is considerable genetic heterogeneity, and superimposed environmental factors confound the analysis. New technologies that will allow finer molecular analysis, as well as new candidates genes, were presented.

Animals↗
PubMed1986

High fetal hemoglobin production in sickle cell anemia in the eastern province of Saudi Arabia is genetically determined.

Homozygous sickle cell disease in the eastern province of Saudi Arabia is clinically mild. Circulating fetal hemoglobin levels of 16.0 +/- 7.4% were found in these anemic patients, but only 1.09 +/- 0.97% in their sickle trait parents. To determine whether these sickle cell anemia patients inherit an increased capacity to synthesize fetal hemoglobin, a radioimmunoassay of fetal and adult hemoglobin was performed on erythroid progenitor (BFU-E)-derived erythroblasts from Saudi Arabian sickle cell patients and their parents. Mean fetal hemoglobin content per BFU-E-derived erythroblast from Saudi Arabian sickle cell patients was 6.2 +/- 2.4 pg/cell or 30.4 +/- 8.6% fetal hemoglobin (normal 1.1 +/- 0.7 pg/cell and 5.1 +/- 1.8%). Linear regression analysis of % HbF in peripheral blood versus % HbF per BFU-E-derived cell showed a positive correlation with an r of 0.65. The variance of the intrinsic capacity to produce HbF may account for almost 40% (r2) of the variance of circulating fetal hemoglobin but other factors, particularly selective survival of F cells, must also contribute significantly. Despite virtually normal HbF levels in sickle trait parents of these Saudi patients, mean fetal hemoglobin production per BFU-E-derived erythroblast in these individuals was elevated to 3.42 +/- 1.79 pg/cell or 16.1 +/- 6.4% fetal hemoglobin, and the magnitude of fetal hemoglobin production found in parents correlated with that of the patients. These data indicate that the high fetal hemoglobin in Saudi sickle cell disease is genetically determined but expressed only during accelerated erythropoiesis. Further evidence of such genetic determination was provided by analysis of DNA polymorphisms within the beta-globin gene cluster on chromosome 11. This revealed a distinctive 5' globin haplotype (+ + - + +) on at least one chromosome 11 in all high F SS and AS tested. The precise relationship of this haplotype to HbF production in this population remains to be defined.

Anemia, Sickle Cell↗
PubMed1985

Concomitant inheritance of alpha-thalassemia in beta 0- thalassemia/Hb E disease.

Concomitant inheritance of alpha-thalassemia in patients with beta 0-thalassemia/hemoglobin (Hb) E disease was detected by restriction endonuclease DNA mapping. Among 42 patients with beta 0-thalassemia/Hb E disease, seven were found to have an alpha-thalassemia-2 haplotype. Of these, five belonged to the rightward or 3.7-kb type of alpha-thalassemia-2 and the remaining two the leftward or 4.2-kb type. All the seven patients with alpha-thalassemia-2 haplotype had hemoglobin levels of 7.4 g/dl or above; those without detectable alpha-thalassemia had hemoglobin levels both higher and lower than 7.4 g/dl. The latter attended the clinic regularly, the former did occasionally. These findings suggest that concomitant inheritance of alpha-thalassemia can alleviate the severity of beta 0-thalassemia/Hb E disease. Failure to find alpha-thalassemia-1 haplotype in these patients suggests that concomitant inheritance of alpha-thalassemia-1 with beta 0-thalassemia/Hb E might lead to so mild a condition that the individuals do not present clinically. The fact that many patients without a detectable alpha-thalassemia haplotype also had hemoglobin levels of 7.4 g/dl or higher suggests that there are additional factors responsible for the mildness of beta 0-thalassemia/Hb E disease.

Adolescent↗
PubMed1985

A multitrait-multimethod analysis of the Preschool Behavior Questionnaire.

The Preschool Behavior Questionnaire is a teacher rating instrument yielding a total score reflecting overall level of adjustment and three subscale scores labeled Hostile/Aggressive, Anxious/Fearful, and Hyperactive/Distractible. This study assessed the convergent and discriminant validity of this teacher rating measure against two alternative measures within a multitrait-multimethod analysis. The results supported the construct validity of the Hostile/Aggressive and Anxious/Fearful scores as well as the overall score. There was, however, no support for the validity of the Hyperactive/Distractible score.

Aggression↗