HB GUNMA (BETA(GUNMA)) WITH PULMONARY-EMBOLISM

Citation
T. Iizumi et al., HB GUNMA (BETA(GUNMA)) WITH PULMONARY-EMBOLISM, Internal medicine, 34(5), 1995, pp. 376-379
Citations number
NO
Categorie Soggetti
Medicine, General & Internal
Journal title
ISSN journal
09182918
Volume
34
Issue
5
Year of publication
1995
Pages
376 - 379
Database
ISI
SICI code
0918-2918(1995)34:5<376:HG(WP>2.0.ZU;2-4
Abstract
A 67-year-old woman with pulmonary embolism was suspected to have beta -thalassemia based on microcytosis, hemolysis and a negative red cell stability test, The DNA sequencing analysis of beta-globin gene, howev er, revealed the deletion of three nucleotides within codon 127-128, l eading to substitution of glutamine and alanine residues at 127 and 12 8 by proline, namely Hb Gunma, This mutant is characterized by the fac t that no abnormal hemoglobin is detected in the circulating blood, an d is classified as a thalassemic hemoglobinopathy, The present case sh owed a relatively hemolytic manifestation.