Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine → threonine at position 75 (E 19) of the γ chain

G. Ricco; U. Mazza; R. M. Turi; P. G. Pich; C. Camaschella; G. Saglio; L. F. Bernini

doi:10.1007/BF00295821

Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine → threonine at position 75 (E 19) of the γ chain

G. Ricco, U. Mazza, R. M. Turi, P. G. Pich, C. Camaschella, G. Saglio, L. F. Bernini

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

Abstract

A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the γ chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for β thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same γ⁷⁵ Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a γ gene nonallelic with those coding for Aγ and Gγ chains.

Original language	English
Pages (from-to)	305-313
Number of pages	9
Journal	Human Genetics
Volume	32
Issue number	3
DOIs	https://doi.org/10.1007/BF00295821
Publication status	Published - Jan 1976

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine → threonine at position 75 (E 19) of the γ chain",

abstract = "A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the γ chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for β thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same γ75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a γ gene nonallelic with those coding for Aγ and Gγ chains.",

author = "G. Ricco and U. Mazza and Turi, {R. M.} and Pich, {P. G.} and C. Camaschella and G. Saglio and Bernini, {L. F.}",

year = "1976",

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pages = "305--313",

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T1 - Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine → threonine at position 75 (E 19) of the γ chain

AU - Ricco, G.

AU - Mazza, U.

AU - Turi, R. M.

AU - Pich, P. G.

AU - Camaschella, C.

AU - Saglio, G.

AU - Bernini, L. F.

PY - 1976/1

Y1 - 1976/1

N2 - A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the γ chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for β thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same γ75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a γ gene nonallelic with those coding for Aγ and Gγ chains.

AB - A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the γ chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for β thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same γ75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a γ gene nonallelic with those coding for Aγ and Gγ chains.

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