Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.

Honig, George R.; Shamsuddin, Mir; Vida, Loyda N.; Mompoint, M.; Valcourt, E; Bowie, Lemuel J.; Jones, Estella; Powers, Patricia A.; Spritz, Richard A.; Guis, Margot

doi:10.1172/jci111382

Cited by 37 publications

(9 citation statements)

References 48 publications

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“…Hb Evanston is a highly unstable a-chain variant caused by a point mutation at codon 14 in the a gene on one -a3.7 chromosome, and was detected in two unrelated African American families [83]. [78].…”

mentioning

confidence: 99%

Human α‐Thalassemia syndromes:Detection of molecular defects

et al. 1996

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mentioning

confidence: 99%

Human α‐Thalassemia syndromes:Detection of molecular defects

et al. 1996

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“…Subsequently, the fragment of interest was sequenced to characterize the mutation. Family analysis located the cd14 TGG→CGG (Trp→Arg) Hb Evanston mutation on the -α 3.7 deletion hybrid as previously described (Honig et al 1984). In two suspected α-thalassemia carriers, the molecular basis of the α 0 -and α + -thalassemia phenotypes could not be determined.…”

Section: Point Mutation Analysismentioning

confidence: 81%

“…The hemoglobin variants HbEvanston (α 2 /α 1 cd14 TG-G→CGG) (Honig et al 1984), HbGouda (α 2 cd72 CAC→ CAA) , and HbKurdistan (α 2 cd47 GAC→TAC) were detected as aberrant migrating bands on starch gel electrophoresis, the former in a heterozygous carrier of the -α 3.7 deletion and the latter two in healthy individuals. DGGE and SSC analysis of the amplified α-globin gene fragments were used to locate the point mutations responsible for these hemoglobin variants to a particular region of the α 1 -or the α 2 -globin genes.…”

Section: Point Mutation Analysismentioning

confidence: 99%

α-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations

Harteveld

Losekoot²,

Heister

et al. 1997

Human Genetics

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In this article we describe the molecular characterization of 104 independent alpha-thalassemia patients identified by hematological analysis and family studies. During the study, another six chromosomes were identified with rearrangements of the alpha-cluster or point mutations in the alpha 2-globin gene, not associated with alpha-thalassemia, in healthy relatives of the patients. The molecular defects were established by Southern blot analysis and, if no deletions could be identified, the alpha-globin genes were investigated by denaturing gradient gel electrophoresis and single strand conformation analysis for the presence of point mutations. Following this strategy, we were able to identify the molecular basis of 131 independent alpha-thalassemia chromosomes. In two individuals, the alpha-thalassemia determinant could not be demonstrated at the molecular level. We identified eight different deletion and five non-deletion alpha-thalassemias, three rearrangements in the alpha-cluster, two alpha-chain variants, and a silent mutation in the alpha 2-globin gene not associated with alpha-thalassemia. The large heterogeneity of alpha-thalassemia mutations seen in the Dutch population might be typical for northern European countries where, besides the more common mutations introduced by migration, a variety of sporadic mutations was also found in the autochthonous population. The screening strategy as described here, capable of identifying a wide spectrum of both deletions and point mutations, identified 98% of the alpha-thalassemia determinants present in 133 chromosomes.

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“…Other variants were produced in reticulocytes at a normal proportion as expected for an a chain variant (47)(48)(49)(50).…”

Section: "Byperunstable" Hbsmentioning

confidence: 92%

Unstable Hemoglobins

Ohba

1990

Hemoglobin

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About 70 variants of Hb A with associated hemolytic disorders have been reported during the past 30 years. I have classified them according to four grades of severity of chronic hemolysis. Acute episodes of severe hemolysis may be seen in all classes. In addition, some 80 variants without overt hemolysis have given positive results with in vitro hemoglobin instability tests. The stereochemical bases for instability can be conjectured in most cases, although few unstable hemoglobins have actually been studied by X-ray crystallography. The mechanisms for denaturation of normal Hb A and its acceleration in unstable hemoglobins were proposed some 15 years ago. The alterations of membrane lipids and proteins leading to red cell senescence and the relevance of hemoglobin denaturation to this process are presently being investigated. Several "hyperunstable" variants are clinically silent, or equivalent to a thalassemia, probably because of very efficient degradation of the abnormal chains.

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Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.

Cited by 37 publications

References 48 publications

Human α‐Thalassemia syndromes:Detection of molecular defects

Human α‐Thalassemia syndromes:Detection of molecular defects

α-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations

Unstable Hemoglobins

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