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Absence of Haemoglobin A in an Individual Simultaneously Heterozygous in the Genes for Hereditary Persistence of Foetal Haemoglobin and β‐Thalassemia°
Author(s) -
Fogarty W. M.,
Vedvick T. S.,
Itano H. A.
Publication year - 1974
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1974.tb00496.x
Subject(s) - heterozygote advantage , genetics , thalassemia , gene , biology , hemoglobinopathy , persistence (discontinuity) , compound heterozygosity , mutation , hemolytic anemia , genotype , immunology , geotechnical engineering , engineering
S ummary . Haemoglobins F and A 2 are the only haemoglobins present in an American Negro adult who is simultaneously heterozygous in the genes for hereditary persistence of foetal haemoglobin (HPFH) and β‐thalassaemia°. About 15% of the haemoglobin F in descendants who are heterozygous only for HPFH is of the G γ‐chain type. About 73% of the haemoglobin F in the HPFH‐β‐thalassaemia° heterozygote is of the G γ‐chain type, and the fraction attributable to control cis to the β‐thalassaemia° gene in this individual is calculated to be entirely of the G γ‐chain type. Thus synthesis of A γ‐chain as well as of β chain is absent under control cis to this β‐thalassaemia° gene.