Efremov G D, Josifovska O, Nikolov N, Codrington J F, Oner C, Gonzalez-Redondo J M, Huisman T H
Macedonian Academy of Sciences and Arts, Research Center for New Technologies, Skopje, Yugoslavia.
Br J Haematol. 1990 Jun;75(2):250-3. doi: 10.1111/j.1365-2141.1990.tb02658.x.
Hb Icaria-Hb H disease was observed in a Yugoslavian teenager who exhibited moderate anaemia with severe microcytosis and hypochromia and 16% Hb H. Four of his relatives were Hb Icaria heterozygotes; their haematological data were comparable to those with a deletional type of alpha-thalassaemia-2. The patient also had an additional alpha-thalassaemia-1 deletion, an approximately 20.5 kb deletion, common among Mediterranean populations. The Hb Icaria mutation, i.e. the TAA----AAA mutation at codon 142, was identified by hybridization of amplified DNA with specific probes. The mutation is located on the alpha 2-globin gene; the one remaining alpha 1-globin gene is apparently able to compensate sufficiently for the loss of the three alpha-globin genes to maintain a haemoglobin level of 8-9 g/dl.
