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Your search keyword '"Malcorra-Azpiazu JJ"' showing total 7 results
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7 results on '"Malcorra-Azpiazu JJ"'

1. A Survey of Structural Hemoglobinopathies in the Canary Islands

Author

Diaz-Cremades Jm, Malcorra-Azpiazu Jj, and Balda-Aguirre Mi

Subjects
Chromatography, Hemoglobins, Abnormal, Biochemistry (medical), Clinical Biochemistry, A hemoglobin, Mineralogy, Globin chain, Hematology, medicine.disease, Cellulose acetate, Hemoglobinopathies, chemistry.chemical_compound, Hemoglobinopathy, Gene Frequency, chemistry, Spain, medicine, Humans, Mass Screening, Cellulose acetate electrophoresis, Routine analysis, Genetics (clinical), Mass screening
Abstract

We carried out a hemoglobin (Hb) survey on 7,250 blood samples from healthy donors. The routine analysis of Hb was done by electories, Beaumont, TX, U.S.A.) (1). Further identification of variant Hbs was made by isoelectrofocusing (IEF) on thin-layer polyacrylamide gels at pH 6.0-9.0 (2), and globin chain electrophoresis on cellulose acetate strips at pH 8.5 and 6.0 (3,4), with comigration of reference samples of Hbs S, D, and C

Published
1990

6. Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant.

Author

Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Hu H, Wilson JB, Webber BB, Kutlar F, Kutlar A, and Huisman TH

Subjects
Adult, Amino Acid Sequence, Hemoglobins, Abnormal isolation & purification, Heterozygote, Humans, Male, Molecular Sequence Data, Spain, Globins genetics, Hemoglobins, Abnormal genetics
Abstract

A new hemoglobin variant with a Ser----Phe substitution at position beta 49(CD8) was discovered in two members of a family living in the Canary Islands, Spain. Detection was by polyacrylamide gel electrophoresis and by reversed phase high performance liquid chromatography. The variant, which constituted 43% and 45%, respectively, in the two heterozygotes, was slightly unstable. Its presence did not affect hematological values though there was a mild reticulocytosis.

Published
1988
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7. Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease.

Author

Gonzalez-Redondo JM, Diaz-Chico JC, Malcorra-Azpiazu JJ, Balda-Aguirre MI, and Huisman TH

Subjects
Adolescent, Adult, Child, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Probes, Female, Humans, Male, Middle Aged, Globins genetics, Thalassemia genetics
Abstract

A new deletion of more than 27 kb, removing the psi zeta 1, psi alpha 2, psi alpha 1, alpha 2, alpha 1 and theta 1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5' end point of the deletion is located between the zeta and psi zeta genes, and the 3' end of the deletion is downstream of the 3' hypervariable region.

Published
1988
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