[Homozygous hemoglobin-E (Hb-EE) disease]

Pediatr Med Chir. 2004 Jan-Feb;26(1):65-7.
[Article in Italian]

Abstract

The Authors report on a 16 year-old girl, of Cambodian descent, who was admitted to the hospital for hematuria. She showed a mild microcytic, hypochromic anemia with a normal iron balance; clinical examination was normal with neither pallor nor icterus nor splenomegaly; electrophoresis of hemoglobin yielded no hemoglobin A, a sligtly increased amount of HbF and a single band with a mobility similar to that of HbA2; the patient showed no evidence of overt increased hemolysis. With the DNA technology a final diagnosis of homozygous hemoglobin E was made. Hemoglobin E is the most common Hb variant among Southeast Asian populations. The Authors discuss on the benign nature of Hb-EE disease, pointing out that the presence of a single HbE gene in combination with that for beta-thalassemia leads generally to a disorder often comparable in severity to that of homozygous beta-thalassemia. With the recent migration of a high number of people from the countries, where HbE is extremely frequent, to the Western world (including Italy), this thalassemia syndrome is now a global health problem; therefore its knowledge is an important diagnostic challenge to all the experts involved in the care of thalassemic patients.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Female
  • Hemoglobin E*
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / genetics
  • Homozygote
  • Humans

Substances

  • Hemoglobin E