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The Hb F composition in a Moroccan Family with β°‐thalassaemia and Hb O‐Arab
Author(s) -
Morlé François,
Morlé Laurette,
Baklouti Faouzi,
Dorléac Evelyne,
Baudonnet Claire,
Delaunay Jean,
Godet Jacqueline
Publication year - 1984
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1984.tb02229.x
Subject(s) - proband , locus (genetics) , genetics , gene , globin , biology , trait , mutation , computer science , programming language
We report on a Moroccan family in which the proposita displays a picture of β‐thalassaemia intermedia, associated with heterozygous Hb O‐Arab (β121 Glu → Lys) and a β°‐thalassaemia trait. Hb O‐Arab was ascertained by the disappearance of the Eco RI restriction site that, normally overlaps the β‐globin gene codon 121. The proposita further presents high proportions of Hb F (12.1%) and of G γ chains (68.6%). The transmission of the proband's haemoglobin markers was analyzed (the proband's husband displaying normal haemoglobin). The β°‐thalassaemia and O‐Arab genes underwent mutual exclusion. A high Hb F (9.28%) level was found in one child, in association with the β°‐thalassaemia trait, while another child carrying the latter trait displayed normal levels of Hb F. This situation suggests that a hetero‐cellular HPFH determinant is involved. However, there was no means to establish whether the high Hb F proportion in the mother results solely from the β°‐thalassae‐mia – Hb O‐Arab association or whether an additional HPFH determinant is present. No DNA deletion was detectably associated with the high proportion of Hb F. In this family, the G γ percentage was high whenever the β°‐thalassaemia gene was present, regardless of total Hb F percentage. This observation is consistent with the view that the control of the G γ percentage in the adult is linked to the β‐locus.