title: Myelodysplastic syndrome (MDS) associated with increased hemoglobin F and trisomy 8: presentation of a patient.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medecine, Hacettepe University, Ankara, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Koç
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: C
authors.initials: C
authors.lastname: Oner
authors.forename: D
authors.initials: D
authors.lastname: Aktas
authors.forename: M
authors.initials: M
authors.lastname: Sözen
authors.forename: E
authors.initials: E
authors.lastname: Tunçbilek
authors.forename: C
authors.initials: C
authors.lastname: Altay
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002648:Child; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005319:Fetal Hemoglobin / Q000032:analysis; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D014314:Trisomy
chemical_list: D005319:Fetal Hemoglobin