Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA.
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.
Efremov
G D
GD
Macedonian Academy of Sciences and Arts, Research Center for New Technologies, Skopje, Yugoslavia.
Josifovska
O
O
Nikolov
N
N
Codrington
J F
JF
Oner
C
C
Gonzalez-Redondo
J M
JM
Huisman
T H
TH
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004247:DNA / Q000032:analysis; D005260:Female; D005784:Gene Amplification; D005796:Genes; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C065084:hemoglobin Icaria; D005914:Globins; D004247:DNA; D006447:Hemoglobin H