Studies of hemoglobin Bart and deletion of alpha-globin genes from cord blood in Thailand.
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Biomedical subjects
Publications and source records attributed to V S Tanphaichitr.
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Twenty five cases of Burkitt's lymphoma in Thai children were diagnosed at the Department of Pediatrics, Siriraj Hospital during the period of 13 years (January 1969 to April 1982). Males were more affected than females with the ratio of 1.7:1. The age ranged from 2 to 11 years with the median age of 4-5 years. The most common clinical manifestations were abdominal mass associated with nausea vomiting, abdominal pain, anorexia, weight loss and generalized lymphadenopathy which occurred in 50-60% of cases. Additional symptoms and signs included anemia, hepatosplenomegaly, edema and pleural effusion. Jaw tumor was found in only 37.5% of the patients. Definite diagnosis depended on the characteristic starry sky appearance of the lymph node biopsy or section of abdominal mass. In advance cases, the tumor cells could be discovered in bone marrow aspiration, ascitic fluid pleural fluid and cerebrospinal fluid. The typical blast cells were detected in the peripheral blood in 4 cases. Antibody to Epstein-Barr virus could be detected in almost all cases with high titers in some cases. Most patients responded very well to local irradiation and chemotherapy with prednisolone plus cyclophosphamide and vincristine or methotrexate. However, relapse occurred rapidly and 80% of the patients died within 3 months after diagnosis with the median survival of only 1 month. Five cases expired early before any specific treatment. The main causes of death were disease, sepsis, excessive bleeding and hyperkalemia.(ABSTRACT TRUNCATED AT 250 WORDS)
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Seventy nine children with typhoid fever were studied, 45 were males and 34 were females. There were 9 out of 45 males patients (20%) who had definite G-6-PD deficiency of whom 3 had acute intravascular hemolysis. The rest of the patients had transient low enzyme activity during the first few weeks of their illness, with reticulocytopenia. Their G-6-PD activities rose up to normal level later in the course of the disease while the reticulocytes were also increased. This study demonstrated that even in normal G-6-PD subjects, typhoid fever can cause transient, acquired low G-6-PD level due to bone marrow suppression. It was suggested from this study that quantitative G-6-PD assay was more useful and sensitive than the screening method and that long term follow up is needed in the case that had unexplained low G-6-PD activity.
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The first case of Niemann-Pick disease Type A in a Thai infant was reported. The patient also had abnormal hemoglobin E. The diagnosis was based on the clinical features, bone marrow findings and sphingomyelinase levels in the culture of skin fibroblasts. The autosomal recessive mode of inheritance was confirmed in this case.
Erythrocyte pyruvate kinase (PK) activity was decreased with acute myelomonoblastic leukaemia (AML) and lymphosarcoma cell leukaemia (LSAL) but increased in patients with chronic myelocytic leukaemia (CML). There was no difference in the enzyme activity between controls and relatives of patients with AML. PK activity in patients with ALL during complete remission was higher than during untreated and relapsed stages. These data provided evidence that the altered enzyme activity is acquired rather than genetic. There was a positive correlation between PK activity and red cell creatine levels. The red cell creatine was low in patients with AML but high in patients with CML. This suggests that the altered enzyme activity in these patients is at least part due to red cell age.
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