Fortuitous diagnosis of the association of hemoglobin J-Broussais with beta + thalassemia

Ann Biol Clin (Paris). 1996;54(8-9):321-3.

Abstract

The authors report a case, not described so far in literature, of an association of HbJ-Broussais [alpha (90 (PG2) lys-->asn beta 2] with beta + thalassemia in a young girl born of Italian father and Breton mother. This association is clinically silent. Biochemistry revealed, besides HbA, the presence of HbJ-Broussais in the proportion of 19.4% and HbA2 value of 3.9%. These percentages, slightly lower than expected, are explained. A familial study is presented.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Hemoglobin J / genetics*
  • Humans
  • Pedigree
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin J