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Association in cis of β + ‐thalassemia and hemoglobin S
Author(s) -
Baklouti Faouzi,
Francina Alain,
Dorléac Evelyne,
Richard Georges,
Rosenberg Daniel,
Godet Jacqueline,
Delaunay Jean
Publication year - 1987
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830260305
Subject(s) - microcytosis , thalassemia , amino acid substitution , hemoglobin , hemoglobin variants , genetics , amino acid , mutation , chemistry , restriction enzyme , biology , microbiology and biotechnology , biochemistry , medicine , dna , anemia , gene , iron deficiency
A Moroccan woman was investigated because of a typical β‐thalassemia trait associated with a low‐percentage (11%) hemoglobin (Hb) variant. The β‐thalassemia trait was manifested by a microcytosis, a high HbA 2 (above 6%), and an increase of the α/β biosynthetic ratio (1.31). The variant was identified to HbS by amino acid analysis of the abnormal peptide (β T1) and by DNA mapping with Sau I (Mst II) restriction endonuclease. No additional amino acid substitution was recorded in the β s ‐chain. The reduction of β‐globin synthesis occurred exclusively at the expense of the β s ‐chain. These results are consistent with the existence of a β s mutation and a β + ‐thalassemia in cis .