TY - JOUR
T1 - Gγ Aγ(δβ)°‐thalassaemia and a new form of γ globin gene triplication identified in the Yugoslavian population
AU - Efremov, G. D.
AU - Filifcče, V.
AU - Gjorgovski, I.
AU - Juričič, D.
AU - Stojanovski, N.
AU - Harano, T.
AU - Nakatsuji, T.
AU - Kutlar, A.
AU - Kutlar, F.
AU - Bakioglu, I.
AU - Huisman, T. H.J.
PY - 1986/5
Y1 - 1986/5
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1365-2141.1986.tb07490.x
DO - 10.1111/j.1365-2141.1986.tb07490.x
M3 - Article
C2 - 2423109
AN - SCOPUS:0022634643
SN - 0007-1048
VL - 63
SP - 17
EP - 28
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 1
ER -