Gγ Aγ(δβ)°‐thalassaemia and a new form of γ globin gene triplication identified in the Yugoslavian population

G. D. Efremov, V. Filifcče, I. Gjorgovski, D. Juričič, N. Stojanovski, T. Harano, T. Nakatsuji, A. Kutlar, F. Kutlar, I. Bakioglu, T. H.J. Huisman

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31 Scopus citations


Among several hundred apparently healthy Yugoslavian adults with slightly elevated levels of fetal haemoglobin, we have identified two distinct abnormalities, (a) A GγAγ(δβ)°‐thalassaemia heterozygosity with an ∼ 15 kb deletion which involves part of the δ globin gene and the β globin gene. This deletion is probably the same as that seen among Italians (Ottolenghi et al, 1982; Carèet al, 1984). (b) A nondeletion form of hereditary persistence of Hb F which is caused by a γ globin gene triplication of the (+)Gγ mD (+)Gγ mD Aγ type. It is characterized by the presence of some 5% Hb F in the heterozygote containing nearly 100%Gγ chains. The C→T mutation at position — 158 5’to the Gγ chain [(+)Gγ], identified through analyses of Xmn I digests, was present at both Gγ globin genes. This mutation is known to be associated with increased Gγ chain production (Gilman & Huisman, 1985), and thus is responsible for the increased Gγ chain production in these heterozygotes. The condition is different from the (+)Gγ mD (+)Gγ nondeletion type of HPFH which has been observed in heterozygotes of two Black families, and is associated with the presence of 3–4% Hb F (with mainly Gγ chains) in heterozygotes.

Original languageEnglish (US)
Pages (from-to)17-28
Number of pages12
JournalBritish Journal of Haematology
Issue number1
StatePublished - May 1986

ASJC Scopus subject areas

  • Hematology


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