A Koç, R Oner, C Oner, D Aktas, M Sözen, E Tunçbilek, C Altay
{"title":"骨髓增生异常综合征(MDS)与血红蛋白F升高和8三体:一个病人的介绍。","authors":"A Koç, R Oner, C Oner, D Aktas, M Sözen, E Tunçbilek, C Altay","doi":"10.1007/s00282-999-0187-3","DOIUrl":null,"url":null,"abstract":"<p><p>A 7.5 year old boy with myelodysplastic syndrome (MDS) of CMML type associated with trisomy 8 and elevated hemoglobin F (Hb F) value is presented. Hematological evaluation of the patient revealed that the Hb was 10 g/dl, MCV 110 FL, platelets 58 X 10(9)/l, WBC 5.4 X 10(9)/l with 24% atypical monocytes. Karyotype analysis revealed 47, XY, +8. Hb F value was 21% which was distributed heterogeneously among red cells. PCR amplified cDNA copies of circulating reticulocyte mRNA were used to measure the relative amounts of alpha-, beta-, and gamma- globin. There was marked increases in both alpha/beta mRNA ratio (20%) and gamma/(gamma+beta) mRNA ratio (35%) in the patient compared to normal subjects. The study indicated that increased transcription of alpha and gamma genes are partly responsible for the elevation of Hb F in MDS.</p>","PeriodicalId":73231,"journal":{"name":"Hematology and cell therapy","volume":"41 4","pages":"187-9"},"PeriodicalIF":0.0000,"publicationDate":"1999-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00282-999-0187-3","citationCount":"2","resultStr":"{\"title\":\"Myelodysplastic syndrome (MDS) associated with increased hemoglobin F and trisomy 8: presentation of a patient.\",\"authors\":\"A Koç, R Oner, C Oner, D Aktas, M Sözen, E Tunçbilek, C Altay\",\"doi\":\"10.1007/s00282-999-0187-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 7.5 year old boy with myelodysplastic syndrome (MDS) of CMML type associated with trisomy 8 and elevated hemoglobin F (Hb F) value is presented. Hematological evaluation of the patient revealed that the Hb was 10 g/dl, MCV 110 FL, platelets 58 X 10(9)/l, WBC 5.4 X 10(9)/l with 24% atypical monocytes. Karyotype analysis revealed 47, XY, +8. Hb F value was 21% which was distributed heterogeneously among red cells. PCR amplified cDNA copies of circulating reticulocyte mRNA were used to measure the relative amounts of alpha-, beta-, and gamma- globin. There was marked increases in both alpha/beta mRNA ratio (20%) and gamma/(gamma+beta) mRNA ratio (35%) in the patient compared to normal subjects. The study indicated that increased transcription of alpha and gamma genes are partly responsible for the elevation of Hb F in MDS.</p>\",\"PeriodicalId\":73231,\"journal\":{\"name\":\"Hematology and cell therapy\",\"volume\":\"41 4\",\"pages\":\"187-9\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1999-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/s00282-999-0187-3\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematology and cell therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00282-999-0187-3\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematology and cell therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00282-999-0187-3","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Myelodysplastic syndrome (MDS) associated with increased hemoglobin F and trisomy 8: presentation of a patient.
A 7.5 year old boy with myelodysplastic syndrome (MDS) of CMML type associated with trisomy 8 and elevated hemoglobin F (Hb F) value is presented. Hematological evaluation of the patient revealed that the Hb was 10 g/dl, MCV 110 FL, platelets 58 X 10(9)/l, WBC 5.4 X 10(9)/l with 24% atypical monocytes. Karyotype analysis revealed 47, XY, +8. Hb F value was 21% which was distributed heterogeneously among red cells. PCR amplified cDNA copies of circulating reticulocyte mRNA were used to measure the relative amounts of alpha-, beta-, and gamma- globin. There was marked increases in both alpha/beta mRNA ratio (20%) and gamma/(gamma+beta) mRNA ratio (35%) in the patient compared to normal subjects. The study indicated that increased transcription of alpha and gamma genes are partly responsible for the elevation of Hb F in MDS.
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