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Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA.
- Source :
-
British journal of haematology [Br J Haematol] 1990 Jun; Vol. 75 (2), pp. 250-3. - Publication Year :
- 1990
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 0007-1048
- Volume :
- 75
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- British journal of haematology
- Publication Type :
- Academic Journal
- Accession number :
- 2372512
- Full Text :
- https://doi.org/10.1111/j.1365-2141.1990.tb02658.x