Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.

Human genetics ·Vol. 32 ·No. 3 ·1976-06-29 ·Pages 305-13

Ricco G, Mazza U, Turi RM, Pich PG, Camaschella C, Saglio G, Bernini LF

Abstract

A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the gamma chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for beta thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same gamma75 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 gamma gene nonallelic with those coding for Agamma and Ggamma chains.

MeSH Terms

Adult Amino Acid Sequence Anemia, Aplastic/blood,genetics Child Fetal Blood/analysis Fetal Hemoglobin Genes Hemoglobins, Abnormal Homozygote Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases Isoleucine Pedigree Thalassemia/blood,genetics Threonine

Chemicals

Hemoglobins, Abnormal Isoleucine Threonine Fetal Hemoglobin

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Ricco G

Mazza U

Turi R M

Pich P G

Camaschella C

Saglio G

Bernini L F

References (15)

15 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00295821

Published

1976-06-29

Pages

305-13

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00295821 View journal details

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Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.

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