[Clinical significance of abnormal hemoglobin analysis in blood cell chemical tests].
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Biomedical subjects
Publications and source records attributed to T Miyaji.
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Presented is a 69-year-old female who had gigantic leiomyosarcoma showing a pedunculated and exogastric growth. Though the patient had been diagnosed as having a gastric submucosal tumor (SMT) on being given an upper GI series and an endoscopical examination, she did not enter hospital until a year and 4 months later. On admission, a large SMT was suspected after an upper GI series and an endoscopic examination. Computed tomography (CT), ultrasonography (US), and angiography revealed a gastric SMT that had grown exogastrically. Subsequently, this tumor was resected with the gastric wall. Histologically, tumor was determined as being a leiomyosarcoma. CT and US were found useful in demonstrating the SMT with its exogastric growth.
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A beta+-thalassemia mutation at codon 24 (GGT----GGA) was discovered in a Japanese; this is the third type of beta-thalassemia found in this population. The case, as well as the data from DNA sequencing analysis, are presented.
Cord blood samples from 889 healthy Japanese newborns from three districts of Honshu Island were studied with the purpose of characterizing the gamma-globin genes in the Japanese. The A gamma T gene frequency was 0.159 which is the same as that found elsewhere in Japan. The haplotype of the chromosome with the A gamma T gene was [-- ++ - + (+ or -) (+ or -)] at eight polymorphic sites. Data from analyses of DNA and the proportion of gamma chains in Hb F showed the existence of various kinds of gamma-globin gene arrangements; six genotypes were observed for individuals with high G gamma values and triple or quadruple gamma-globin gene arrangements, and seven genotypes for babies with low G gamma values and a single gamma-globin gene. The in vivo expression of the gamma-globin gene located at the third or fourth position in the multiple gene arrangement was found to be about 5% and 2.5% of the total, respectively. The haplotype for the chromosomes with a triple gamma-globin gene was [+ --(-)---- +], but that for the chromosomes with a single gamma-globin gene remains unclear. In addition, a new type of Bgl II polymorphism in the G gamma-globin gene was observed.
A new hyperunstable hemoglobin was found in a Japanese girl who had very severe, chronic hemolytic anemia. Her parents and siblings were hematologically normal. The abnormal hemoglobin comprised a very small proportion of the total hemoglobin, although it was produced almost at the same rate as normal hemoglobin. Sequencing of an abnormal peptide which was liberated from the beta chain by hydrolysis with a protease from Staphylococcus aureus V8 disclosed the tandem insertion of a five-residue segment which included the proximal histidine at beta 92(F8).
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Mitochondrial creatine kinase (CK-mit) is increased in cancer tissues of the digestive tract. There is no difference in molecular weight, electrophoretic and kinetic properties between the isoenzymes extracted from the tumor and those from the adjacent normal tissues. High non-CK-M/total CK activity ratios in some sera from cancer patients probably reflect leakage of CK-mit from the tumor tissues.