Hemoglobin Birmingham and hemoglobin Galicia: Two unstable β chain variants characterized by small deletions and insertions

J. B. Wilson, B. B. Webber, H. Hu, A. Kutlar, F. Kutlar, J. F. Codrington, J. T. Prchal, K. M. Hall, J. M. De Pablos, I. Rodriguez, T. H.J. Huisman

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Two unstable hemoglobins (Hbs) causing rather severe hemolytic anemia have been characterized. The β chain of Hb Birmingham, found in an adult black man, is characterized by the loss of -Leu-Ala-His-Lys- at positions 141, 142, 143, and 144 and their replacement by one Gln residue. These changes are the result of a deletion of nine nucleotides, namely two base pairs (bp) of codon 141, all of codons 142 and 143, and one bp of codon 144; the remaining CAG triplet (C from codon 141 and AG from codon 144) codes for the inserted glutamine. In the β chain of Hb Galicia from a Spanish patient, His and Val at positions 97 and 98 are replaced by one Leu residue. This is due to an ACG deletion in codons 97 and 98, which causes the removal of one His and one Val residue, while the remaining CTG triplet (C from codon 97 and TG from codon 98) codes for the inserted leucine residue. Two mechanisms, namely slipped mispairing in the presence of short repeats, and misreading by DNA polymerase due to a local distortion of the DNA helix, are considered in explaining the origin of the small deletions.

Original languageEnglish (US)
Pages (from-to)1883-1887
Number of pages5
JournalBlood
Volume75
Issue number9
StatePublished - Jan 1 1990

Fingerprint

DNA-Directed DNA Polymerase
Glutamine
Codon
Leucine
Hemoglobins
Nucleotides
DNA
Base Pairing
hemoglobin Birmingham
hemoglobin Galicia
Hemolytic Anemia

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Wilson, J. B., Webber, B. B., Hu, H., Kutlar, A., Kutlar, F., Codrington, J. F., ... Huisman, T. H. J. (1990). Hemoglobin Birmingham and hemoglobin Galicia: Two unstable β chain variants characterized by small deletions and insertions. Blood, 75(9), 1883-1887.

Hemoglobin Birmingham and hemoglobin Galicia : Two unstable β chain variants characterized by small deletions and insertions. / Wilson, J. B.; Webber, B. B.; Hu, H.; Kutlar, A.; Kutlar, F.; Codrington, J. F.; Prchal, J. T.; Hall, K. M.; De Pablos, J. M.; Rodriguez, I.; Huisman, T. H.J.

In: Blood, Vol. 75, No. 9, 01.01.1990, p. 1883-1887.

Research output: Contribution to journalArticle

Wilson, JB, Webber, BB, Hu, H, Kutlar, A, Kutlar, F, Codrington, JF, Prchal, JT, Hall, KM, De Pablos, JM, Rodriguez, I & Huisman, THJ 1990, 'Hemoglobin Birmingham and hemoglobin Galicia: Two unstable β chain variants characterized by small deletions and insertions', Blood, vol. 75, no. 9, pp. 1883-1887.
Wilson, J. B. ; Webber, B. B. ; Hu, H. ; Kutlar, A. ; Kutlar, F. ; Codrington, J. F. ; Prchal, J. T. ; Hall, K. M. ; De Pablos, J. M. ; Rodriguez, I. ; Huisman, T. H.J. / Hemoglobin Birmingham and hemoglobin Galicia : Two unstable β chain variants characterized by small deletions and insertions. In: Blood. 1990 ; Vol. 75, No. 9. pp. 1883-1887.
@article{cb9c836561fa4612bb327161e680ef34,
title = "Hemoglobin Birmingham and hemoglobin Galicia: Two unstable β chain variants characterized by small deletions and insertions",
abstract = "Two unstable hemoglobins (Hbs) causing rather severe hemolytic anemia have been characterized. The β chain of Hb Birmingham, found in an adult black man, is characterized by the loss of -Leu-Ala-His-Lys- at positions 141, 142, 143, and 144 and their replacement by one Gln residue. These changes are the result of a deletion of nine nucleotides, namely two base pairs (bp) of codon 141, all of codons 142 and 143, and one bp of codon 144; the remaining CAG triplet (C from codon 141 and AG from codon 144) codes for the inserted glutamine. In the β chain of Hb Galicia from a Spanish patient, His and Val at positions 97 and 98 are replaced by one Leu residue. This is due to an ACG deletion in codons 97 and 98, which causes the removal of one His and one Val residue, while the remaining CTG triplet (C from codon 97 and TG from codon 98) codes for the inserted leucine residue. Two mechanisms, namely slipped mispairing in the presence of short repeats, and misreading by DNA polymerase due to a local distortion of the DNA helix, are considered in explaining the origin of the small deletions.",
author = "Wilson, {J. B.} and Webber, {B. B.} and H. Hu and A. Kutlar and F. Kutlar and Codrington, {J. F.} and Prchal, {J. T.} and Hall, {K. M.} and {De Pablos}, {J. M.} and I. Rodriguez and Huisman, {T. H.J.}",
year = "1990",
month = "1",
day = "1",
language = "English (US)",
volume = "75",
pages = "1883--1887",
journal = "Blood",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "9",

}

TY - JOUR

T1 - Hemoglobin Birmingham and hemoglobin Galicia

T2 - Two unstable β chain variants characterized by small deletions and insertions

AU - Wilson, J. B.

AU - Webber, B. B.

AU - Hu, H.

AU - Kutlar, A.

AU - Kutlar, F.

AU - Codrington, J. F.

AU - Prchal, J. T.

AU - Hall, K. M.

AU - De Pablos, J. M.

AU - Rodriguez, I.

AU - Huisman, T. H.J.

PY - 1990/1/1

Y1 - 1990/1/1

N2 - Two unstable hemoglobins (Hbs) causing rather severe hemolytic anemia have been characterized. The β chain of Hb Birmingham, found in an adult black man, is characterized by the loss of -Leu-Ala-His-Lys- at positions 141, 142, 143, and 144 and their replacement by one Gln residue. These changes are the result of a deletion of nine nucleotides, namely two base pairs (bp) of codon 141, all of codons 142 and 143, and one bp of codon 144; the remaining CAG triplet (C from codon 141 and AG from codon 144) codes for the inserted glutamine. In the β chain of Hb Galicia from a Spanish patient, His and Val at positions 97 and 98 are replaced by one Leu residue. This is due to an ACG deletion in codons 97 and 98, which causes the removal of one His and one Val residue, while the remaining CTG triplet (C from codon 97 and TG from codon 98) codes for the inserted leucine residue. Two mechanisms, namely slipped mispairing in the presence of short repeats, and misreading by DNA polymerase due to a local distortion of the DNA helix, are considered in explaining the origin of the small deletions.

AB - Two unstable hemoglobins (Hbs) causing rather severe hemolytic anemia have been characterized. The β chain of Hb Birmingham, found in an adult black man, is characterized by the loss of -Leu-Ala-His-Lys- at positions 141, 142, 143, and 144 and their replacement by one Gln residue. These changes are the result of a deletion of nine nucleotides, namely two base pairs (bp) of codon 141, all of codons 142 and 143, and one bp of codon 144; the remaining CAG triplet (C from codon 141 and AG from codon 144) codes for the inserted glutamine. In the β chain of Hb Galicia from a Spanish patient, His and Val at positions 97 and 98 are replaced by one Leu residue. This is due to an ACG deletion in codons 97 and 98, which causes the removal of one His and one Val residue, while the remaining CTG triplet (C from codon 97 and TG from codon 98) codes for the inserted leucine residue. Two mechanisms, namely slipped mispairing in the presence of short repeats, and misreading by DNA polymerase due to a local distortion of the DNA helix, are considered in explaining the origin of the small deletions.

UR - http://www.scopus.com/inward/record.url?scp=0025267196&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025267196&partnerID=8YFLogxK

M3 - Article

C2 - 2158827

AN - SCOPUS:0025267196

VL - 75

SP - 1883

EP - 1887

JO - Blood

JF - Blood

SN - 0006-4971

IS - 9

ER -