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J A Rising

Publications and source records attributed to J A Rising.

9 recordsLinked to original sources
PubMed1975

A heterozygote for Hb S beta, Hb C beta and Hb G Philadelphia beta in a family presenting evidence for heterogeneity of hemoglobin alpha chain loci.

A child heterozygous for the genes for hemoglobins S, C and G alpha Philadelphia presented with a clinical picture similar to sickle cell anemia. Her hemoglobin electrophoretic pattern contained three components with the mobilities of hemoglobins S (35 per cent), C (47 per cent) and a more slowly migrating hybrid G/C molecule (15 per cent). Seven relatives were heterozygous for Hb G beta and Hb S beta and five were heterozygous only for Hb G alpha. Among the latter, three had approximately 30 per cent and two had 40 per cent of Hb G. These proportions are consistent with the hypothesis that the American Negro genome contains two types of chromosomes bearing structural loci for alpha chains, some possessing one Hb alpha locus, others having two loci. Hb G alpha-Philadelphia presumably arose as a mutation on a chromosome with a single locus. Those heterozygotes having 30 per cent and 40 per cent Hb G presumably have two loci and only one locus, respectively, on the homologous chromosome.

Amino Acid Sequence↗
PubMedDate not supplied

Erythrocytic microcytosis: clinical implications in 100 patients.

Hematology results from 3800 blood samples were examined for the presence of erythrocytic microcytosis. One hundred patients with electronically measured mean corpuscular volumes of 75 cubic microns or less were reviewed to determine the cause of microcytosis and evaluate recently described simplified techniques for separating thalassemia trait from other causes of microcytosis. The discriminant function formula of England and Fraser [MCV - RBC - (5 x Hgb) - 3.4] was found to be useful in uncomplicated patients with the Mediterranean type of thalassemia trait (betadegree) but less useful in the African type (beta+) of heterozygous beta-thalassemia. Anemias of chronic disorders were found to be a major cause of microcytosis. Microcytosis of no apparent cause was found in some children. Improved techniques in hemoglobin A2 quantification remain the best approach for detecting beta-thalassemia heterozygotes.

Adult↗