Oxygen affinity and stability of hemoglobin dunn (α6(A4)Asp→Asn): Use of isoelectric focusing in recognition of a new abnormal hemoglobin

Charache, Samuel; Brimhall, Bernadine; Zaatari, Ghazi; Hathaway, Peter; Steiman, I.

doi:10.1002/ajh.2830090203

Cited by 9 publications

(2 citation statements)

References 22 publications

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“…It has increased oxygen affinity and decreased stability [33]. The low levels of Hb Dunn in the 3 cases of our subjects (8.8–14.4% on HPLC & 6.4–6.9% on capillary electrophoresis) confirmed this.…”

Section: Discussionsupporting

confidence: 77%

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

et al. 2014

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BackgroundHemoglobin (Hb) variants are structurally inherited changes of globin chains. Accurate diagnoses of these variants are important for planning of appropriate management and genetic counseling. Since no epidemiological study has been conducted before, we have investigated frequencies, molecular and hematological features of Hb variants found in a large cohort of Thai subjects.Materials and MethodsStudy was conducted on 26,013 unrelated subjects, inhabiting in all geographical parts of Thailand over a period of 11 years from January 2002-December 2012. Hb analysis was done on high performance liquid chromatography (HPLC) or capillary electrophoresis (CE). Mutations causing Hb variants were identified using PCR and related techniques.ResultsAmong 26,013 subjects investigated, 636 (2.4%) were found to carry Hb variants. Of these 636 subjects, 142 (22.4%) carried α-chain variants with 13 different mutations. The remaining included 451 (70.9%) cases with 16 β-chain variants, 37 (5.8%) cases with Hb Lepore (δβ-hybrid Hb) and 6 (0.9%) cases with a single δ-chain variant. The most common α-globin chain variant was the Hb Q-Thailand (α74GAC-CAC, Asp-His) which was found in 101 cases (15.8%). For β-globin chain variants, Hb Hope (β136GGT-GAT, Gly-Asp) and Hb Tak (β146+AC, Ter-Thr) are the two most common ones, found in 121 (19.0%) and 90 (14.2%) cases, respectively. Seven Hb variants have never been found in Thai population. Hb analysis profiles on HPLC or CE of these variants were illustrated to guide presumptive diagnostics.ConclusionsHb variants are common and heterogeneous in Thai population. With varieties of thalassemias and hemoglobinopathies in the population, interactions between them leading to complex syndromes are common and render their diagnoses difficult in routine practices. Knowledge of the spectrum, molecular basis, genotype-phenotype correlation and diagnostic features should prove useful for prevention and control of the diseases in the region.

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Section: Discussionsupporting

confidence: 77%

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

et al. 2014

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“…Hematologic studies and measurements of globin synthesis were carried out by previously described methods [2]; mean corpuscular volume was measured with a Coulter S + I1 Counter, hemoglobin A2 by column chromatography, and hemoglobin H by elution from cellulose acetate strips after electrophoresis at pH 8.6. DNA was prepared from peripheral blood leukocytes by the method of Kunkel et al [3].…”

Section: Methodsmentioning

confidence: 99%

Hemoglobin H disease and multiple congenital anomalies in a child of Northern European origin

1982

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Hemoglobin H (HbH) disease was recently described in three unrelated northern European boys with mental retardation. We have studied a somewhat similar patient, in whom HbH disease was associated with multiple congenital anomalies. Restriction endonuclease analysis of DNA from this proband yielded a pattern consistent with the alpha-/-- genotype commonly associated with the HbH phenotype in Asians. His parents both carry alpha thalassemia, in contrast to the previously described families in which only one of the two parents was a carrier.

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Asymptomatic association of hemoglobin Dunn (α6[A4]Asp→Asn) and hemoglobin O‐Arab (β121[GH4]Glu→Lys) in a Moroccan man

Baklouti

Francina²,

Dorléac³

et al. 1988

American J Hematol

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We report on the association of Hb Dunn (alpha 6[A4]Asp----Asn) and Hb O-Arab (beta 121 [GH4]Glu----Lys) in a healthy Moroccan man. Hb Dunn had the same electrophoretic properties as Hb G-Philadelphia, but its percentage was lower. Its identification was based on sequence determination of the alpha T1 peptide. Bgl II and Eco RI mapping showed the presence of four alpha-genes. Hb O-Arab was easily recognized through its electrophoretic properties and was confirmed by the suppression of the Eco RI site located in exon 3 of the beta-gene. The percentages of the various hemoglobins showed that the doubly mutated hemoglobin Dunn/O-Arab has a normal stability and suggested that the Dunn mutation is carried by the alpha 1-gene. In cord blood [propositus's son], the output of the alpha Dunn gene was found equivalent to that existing in the adult.

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Oxygen affinity and stability of hemoglobin dunn (α6(A4)Asp→Asn): Use of isoelectric focusing in recognition of a new abnormal hemoglobin

Cited by 9 publications

References 22 publications

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

Hemoglobin H disease and multiple congenital anomalies in a child of Northern European origin

Asymptomatic association of hemoglobin Dunn (α6[A4]Asp→Asn) and hemoglobin O‐Arab (β121[GH4]Glu→Lys) in a Moroccan man

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