[Hasharon hemoglobinopathy in a family].
The authors describe an 18 year old athlete, a carrier of Hasharon haemoglobinopathy, pathology which had been checked in some ascendants too. Such a haemoglobinopathy, which has at first been verified in Ashkenazy Hebrew people and is nowadays rather common in North East Italy, shows clinical and laboratory features which are slightly or not at all mentioned in the literature. The leading reference point in the disease's development is the connection between splenomegaly and repetitive low erythrocytosis with serum iron deficiency and increase of the reticulocyte number. The same laboratory data had been observed in his father and in his paternal grandmother; both of them proved to te heterozygous carriers of Hasharon haemoglobinopathy. In all cases we caught the diagnostic validation by the means of isoelectrophoresis involving haemoglobin lysate in polyacrylamide gel. The authors think that the Hasharon shape they verified may be a variant of the classic phenotype: the splenomegaly and erythrocytosis may signify a brisk and primitive erythropoiesis with increasing reticulocytes, which might compensate for the anomalous synthesis of the alpha chains. Serum iron deficiency may signify an increase of the iron consumption. Moreover, the authors do not exclude the possibility of further associational abnormalities.
Tamburrini
L R
LR
II Cattedra di Geriatria e Gerontologia, Università degli Studi di Trieste.
Ponte
E
E
Benedetti
M
M
D000293:Adolescent; D001224:Aspartic Acid; D005914:Globins; D006453:Hemoglobinopathies / Q000235:genetics*; D006639:Histidine; D006801:Humans; D008297:Male; D010375:Pedigree
D001224:Aspartic Acid; D006639:Histidine; D005914:Globins
Su un gruppo familiare di emoglobinopatia Hasharon.