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Article: The haematological puzzle of Hb J Cape Town is partly solved.

Lambridis, A J / Ramsay, M / Jenkins, T

British journal of haematology

1986  Volume 63, Issue 2, Page(s) 363–367

Abstract: Molecular studies have shown that the mutation giving rise to Hb J Cape Town (alpha 92 arg----gln) is situated on a chromosome from which the other alpha-globin gene has been deleted. The -alpha 3.7 deletion has resulted from crossing-over within segment ...

Abstract Molecular studies have shown that the mutation giving rise to Hb J Cape Town (alpha 92 arg----gln) is situated on a chromosome from which the other alpha-globin gene has been deleted. The -alpha 3.7 deletion has resulted from crossing-over within segment I of the Z region of homology. There appears to be an unusually high proportion of the variant haemoglobin in heterozygotes which cannot be explained by gene dosage alone.
MeSH term(s) Chromosome Deletion ; Globins/genetics ; Hemoglobin A2/analysis ; Hemoglobin J/analysis ; Hemoglobin J/genetics ; Hemoglobins, Abnormal/genetics ; Heterozygote ; Humans ; Pedigree
Chemical Substances Hemoglobins, Abnormal ; Hemoglobin J (58128-48-6) ; Globins (9004-22-2) ; Hemoglobin A2 (9034-53-1)
Language English
Publishing date 1986-06
Publishing country England
Document type Journal Article
ZDB-ID 80077-6
ISSN 1365-2141 ; 0007-1048
ISSN (online) 1365-2141
ISSN 0007-1048
DOI 10.1111/j.1365-2141.1986.tb05561.x
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