Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities

M. Harkness, D. R. Harkness, Ferdane Kutlar, Abdullah Kutlar, J. B. Wilson, B. B. Webber, J. F. Codrington, T. H.J. Huisman

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable α chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the αx chain was obtained by preparative reversed phase high performance liquid chromatography. Structural analyses identified an Ala → Pro replacement at position 130 of the a chain. The instability of the variant, named Hb Sun Prairie, is comparable to that of Hb Bibba [αl36 (H19)Leu → Pro]. Gene mapping failed to detect an αthalassemia deletion (αalpha;alpha;alpha; while dot-blot analysis of amplified DNA with synthetic probes localized a G → C mutation in codon 130 (resulting in the Ala → Pro mutation) of the α2-globin genes of both chromosomes. These results suggest a homozygosity for the G → C mutation and the condition α2(G → C)αl/α2(G → C)αl adequately explains the rather severe clinical status of this child, including the marked microcytosis and hypochromia. Unfortunately, family studies to exclude the presence of a large deletion involving all ζ and αglobin genes were not possible.

Original languageEnglish (US)
Pages (from-to)479-489
Number of pages11
JournalHemoglobin
Volume14
Issue number5
DOIs
StatePublished - Jan 1 1990

Fingerprint

Solar System
Sun
Globins
Genes
Mutation
alpha-Thalassemia
Chromosome Mapping
Hemolytic Anemia
High performance liquid chromatography
Reverse-Phase Chromatography
Chromosomes
Codon
Hemoglobins
Hot Temperature
High Pressure Liquid Chromatography
DNA
Liquids

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Harkness, M., Harkness, D. R., Kutlar, F., Kutlar, A., Wilson, J. B., Webber, B. B., ... Huisman, T. H. J. (1990). Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities. Hemoglobin, 14(5), 479-489. https://doi.org/10.3109/03630269009005801

Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities. / Harkness, M.; Harkness, D. R.; Kutlar, Ferdane; Kutlar, Abdullah; Wilson, J. B.; Webber, B. B.; Codrington, J. F.; Huisman, T. H.J.

In: Hemoglobin, Vol. 14, No. 5, 01.01.1990, p. 479-489.

Research output: Contribution to journalArticle

Harkness, M, Harkness, DR, Kutlar, F, Kutlar, A, Wilson, JB, Webber, BB, Codrington, JF & Huisman, THJ 1990, 'Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities', Hemoglobin, vol. 14, no. 5, pp. 479-489. https://doi.org/10.3109/03630269009005801
Harkness, M. ; Harkness, D. R. ; Kutlar, Ferdane ; Kutlar, Abdullah ; Wilson, J. B. ; Webber, B. B. ; Codrington, J. F. ; Huisman, T. H.J. / Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities. In: Hemoglobin. 1990 ; Vol. 14, No. 5. pp. 479-489.
@article{8cb3092196bf41efbe811a9b1158b5f2,
title = "Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities",
abstract = "A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable α chain which was present in 3 to 5{\%} of the total hemoglobin. A larger quantity of the αx chain was obtained by preparative reversed phase high performance liquid chromatography. Structural analyses identified an Ala → Pro replacement at position 130 of the a chain. The instability of the variant, named Hb Sun Prairie, is comparable to that of Hb Bibba [αl36 (H19)Leu → Pro]. Gene mapping failed to detect an αthalassemia deletion (αalpha;alpha;alpha; while dot-blot analysis of amplified DNA with synthetic probes localized a G → C mutation in codon 130 (resulting in the Ala → Pro mutation) of the α2-globin genes of both chromosomes. These results suggest a homozygosity for the G → C mutation and the condition α2(G → C)αl/α2(G → C)αl adequately explains the rather severe clinical status of this child, including the marked microcytosis and hypochromia. Unfortunately, family studies to exclude the presence of a large deletion involving all ζ and αglobin genes were not possible.",
author = "M. Harkness and Harkness, {D. R.} and Ferdane Kutlar and Abdullah Kutlar and Wilson, {J. B.} and Webber, {B. B.} and Codrington, {J. F.} and Huisman, {T. H.J.}",
year = "1990",
month = "1",
day = "1",
doi = "10.3109/03630269009005801",
language = "English (US)",
volume = "14",
pages = "479--489",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "5",

}

TY - JOUR

T1 - Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities

AU - Harkness, M.

AU - Harkness, D. R.

AU - Kutlar, Ferdane

AU - Kutlar, Abdullah

AU - Wilson, J. B.

AU - Webber, B. B.

AU - Codrington, J. F.

AU - Huisman, T. H.J.

PY - 1990/1/1

Y1 - 1990/1/1

N2 - A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable α chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the αx chain was obtained by preparative reversed phase high performance liquid chromatography. Structural analyses identified an Ala → Pro replacement at position 130 of the a chain. The instability of the variant, named Hb Sun Prairie, is comparable to that of Hb Bibba [αl36 (H19)Leu → Pro]. Gene mapping failed to detect an αthalassemia deletion (αalpha;alpha;alpha; while dot-blot analysis of amplified DNA with synthetic probes localized a G → C mutation in codon 130 (resulting in the Ala → Pro mutation) of the α2-globin genes of both chromosomes. These results suggest a homozygosity for the G → C mutation and the condition α2(G → C)αl/α2(G → C)αl adequately explains the rather severe clinical status of this child, including the marked microcytosis and hypochromia. Unfortunately, family studies to exclude the presence of a large deletion involving all ζ and αglobin genes were not possible.

AB - A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable α chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the αx chain was obtained by preparative reversed phase high performance liquid chromatography. Structural analyses identified an Ala → Pro replacement at position 130 of the a chain. The instability of the variant, named Hb Sun Prairie, is comparable to that of Hb Bibba [αl36 (H19)Leu → Pro]. Gene mapping failed to detect an αthalassemia deletion (αalpha;alpha;alpha; while dot-blot analysis of amplified DNA with synthetic probes localized a G → C mutation in codon 130 (resulting in the Ala → Pro mutation) of the α2-globin genes of both chromosomes. These results suggest a homozygosity for the G → C mutation and the condition α2(G → C)αl/α2(G → C)αl adequately explains the rather severe clinical status of this child, including the marked microcytosis and hypochromia. Unfortunately, family studies to exclude the presence of a large deletion involving all ζ and αglobin genes were not possible.

UR - http://www.scopus.com/inward/record.url?scp=0025609490&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025609490&partnerID=8YFLogxK

U2 - 10.3109/03630269009005801

DO - 10.3109/03630269009005801

M3 - Article

VL - 14

SP - 479

EP - 489

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 5

ER -