Myelodysplastic syndrome (MDS) associated with increased hemoglobin F and trisomy 8: presentation of a patient


Koc A. , Oner R., Oner C., Aktas D., SÖZEN M. M. , Tuncbilek E., ...More

HEMATOLOGY AND CELL THERAPY, vol.41, no.4, pp.187-189, 1999 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 4
  • Publication Date: 1999
  • Doi Number: 10.1007/s00282-999-0187-3
  • Title of Journal : HEMATOLOGY AND CELL THERAPY
  • Page Numbers: pp.187-189

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.