Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21)

Br J Haematol. 1994 Jun;87(2):386-95. doi: 10.1111/j.1365-2141.1994.tb04927.x.

Abstract

A constitutional, balanced chromosomal translocation t(11;22)(p15.5;q11.21) was discovered in a tall young man during investigation of a red cell dimorphism. The red cells are predominantly normochromic and normocytic with a small population of hypochromic, microcytic cells. Contained within the regions involved in the translocation are determinants of height (IGF2:11p15.5), red cell haemoglobinization (non-alpha globin gene complex: 11p15.5) and oncogenesis (cHa-Ras-1, Beckwith-Wiedemann syndrome: 11p15.5; BCR, Burkitts lymphoma, Ewings sarcoma: 22q11.21). To map these regions in the patient, somatic cell hybrids were generated and cell lines that segregated the chromosomes 11, 22 and 22q- were obtained. All 11p15.5 sequences investigated, in particular the whole of the non-alpha globin gene complex including its 5' and 3' regulatory sequences, were found to be translocated to 22q-. All chromosome 22 sequences studied were missing from the 22q- cell lines, including the proximal anonymous marker D22S24, and therefore assumed to be translocated to 11p+. These results suggest that the non-alpha globin gene complex has been moved close to the centromeric region of chromosome 22q-. It is postulated that such a positioning subjects the complex to a variegated position-effect bringing about a clonal exclusion of the complex and thus producing a beta-thalassaemia trait mosaic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 22*
  • Erythrocytes, Abnormal / pathology*
  • Globins / genetics
  • Growth Disorders / genetics*
  • Hemoglobins / analysis
  • Humans
  • Karyotyping
  • Male
  • Translocation, Genetic / physiology*

Substances

  • Hemoglobins
  • Globins