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

Hematol Cell Ther. 1999 Aug;41(4):187-9. doi: 10.1007/s00282-999-0187-3.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence / genetics
  • Child
  • Chromosomes, Human, Pair 8 / genetics*
  • Fetal Hemoglobin / analysis
  • Hematologic Tests
  • Humans
  • Male
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / metabolism*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics
  • Trisomy*

Substances

  • Fetal Hemoglobin