[Homozygous hemoglobin-E (Hb-EE) disease].
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.
Amendola
G
G
Ematologia, Oncologia Pediatrica. gamendolaq@tin.it
Danise
P
P
Di Palma
A
A
Franzese
M
M
Avino
D
D
D'Arco
A M
AM
D000293:Adolescent; D005260:Female; D006446:Hemoglobin E; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006720:Homozygote; D006801:Humans
D006446:Hemoglobin E