Urea polyacrylamide gel electrophoresis of PCMB precipitate as a sensitive test for the detection of the unstable hemoglobin subunit

Ohba, Yusuke; Hattori, Yukio; Yoshinaka, Hiroshi; Matsuoka, M; Miyaji, T; Nakatsuji, Norio; Hirano, Masami

doi:10.1016/0009-8981(82)90330-8

Cited by 20 publications

(2 citation statements)

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“…Hb stability was examined by the isopropanol and heat methods (7,8). Hb variants were dissociated by parachloro-mercuri-benzoate (PCMB), which is capable of differentiating α-or β-globin mutations (9). DNA analysis.…”

Section: Methodsmentioning

confidence: 99%

Molecular and clinical characteristics of Hemoglobin Ottawa detected in a Chinese population

Huang

Lin

et al. 2011

Mol Med Rep

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Abstract. Hemoglobin (Hb) ottawa [α15 (a13) Gly→arg], also known as Hb Siam, was first described in an 82-year-old Canadian in 1974. The same year, a second case was reported in a 28-year-old Chinese male living in Thailand. A third case was found in 1986 in a Chinese female living in the Hubei province of China. Since then, there have been no reports of Hb Ottawa in mainland China in the English literature. Hb ottawa results from a GGT→CGT mutation in codon 15 of the α 1 or α 2 -globin gene. Hb Ottawa carriers do not present any clinical symptoms or hematological changes, and are often diagnosed during a health examination and thalassemia screening. In a hemoglobin survey of 9745 students in Chaozhou, Guangdong, China, we identified four cases of Hb Ottawa in a thalassemia screening by Hb electrophoresis, and confirmed it to be the result of a GGT→cGT mutation in codon 15 of the α 2 -globin gene by DNA sequence analysis.

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Section: Methodsmentioning

confidence: 99%

Molecular and clinical characteristics of Hemoglobin Ottawa detected in a Chinese population

Huang

Lin

et al. 2011

Mol Med Rep

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“…Tests for Hb stability were carried out using the isopropanol and heat methods (13,14). Hb variants were dissociated by parachloromercuribenzoate (PCMB), which differentiates α-or β-globin mutation (15).…”

Section: Methodsmentioning

confidence: 99%

Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hbï¿½Ube‑2 [α68 (E17) Asn→Asp] and Hbï¿½Ube‑4 [α116 (GH4) Glu→Ala]

Huang

Lin

et al. 2011

Mol Med Report

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Abstract. In this study we report three cases of Hb Ube-1, one case of Hb Ube-2 and one case of Hb Ube-4 in mainland China. One case of Hb Ube-1 had the clinical manifestation of hemolytic anemia. Hb Ube-2 and Hb Ube-4 did not appear to be associated with clinical or hematological abnormalities. The variants were detected by Hb electrophoresis during a thalassemia screening. Genomic DNA was extracted from the peripheral blood leukocytes of Hb specimens. α1, α2 and β-globin genes were amplified by polymerase chain reaction (PCR). All variants were confirmed by DNA sequence analysis and the PCR-restriction fragment length polymorphism assay. IntroductionA recent query of the Human Hemoglobin Variant database (HbVar) (http://globin.cse.psu.edu) identified 652 variants of the α-globin chain and 775 variants of the β-globin chain. The majority of these hemoglobin variants do not have any hematological or clinical effects and are often found incidentally, for example during newborn screening or health examination, and are finally identified by DNA sequencing.Hb Ube-1 [β98 (FG5) Val→Met], also known as Hb Koln, was first observed in Cologne, Germany, by Pribilla in 1965. It is often found in Europe and America, and has occasionally been reported in Japan, South Korea and Taiwan (1-3). Hb Ube-1, in which the β98 (FG5) valine residue is replaced by methionine (G→A), is the most frequent unstable hemoglobin. However, it presents very few features that allow its distinction from other unstable hemoglobin variants. Mild anemia, jaundice and persistent excretion of dark urine characterize the clinical manifestations of Hb Ube-1. The relationship between the amino acid substitution (Val→Met) and the instability of this hemoglobin suggests that the valine residue is in contact with the heme in the normal β-chain. The substitution of valine for methionine changes the steric configuration of the β-globin, which either alters the enzymatic reduction of iron or results in an increased conversion of meta-hemoglobin into denatured hemoglobin. When Hb Ube-1 is in the oxygenated conformation, the molecule is saturated with heme groups and is stable. The transition to the deoxygenated state results in the loss of heme groups, the instability of Hb and the precipitation and formation of Heinz bodies, which are cytoplasmic degradation products attached to the cell membrane (4). Heinz bodies induce hemolysis and splenomegaly (5).Hb Ube-2 [α68 (E17) Asn→Asp] was originally observed in a Japanese individual in 1967 (6). To our knowledge, it has only ever been observed in the Japanese and Taiwanese population (7). This Hb variant resulted from an AAC→GAC mutation at codon 68 of the α-globin gene. Hb Ube-2 carriers do not have clinical symptoms or hematological changes, and their oxygen affinity is normal.Hb Ube-4 [α116 (GH4) Glu→Ala (α1)] is an abnormal hemoglobin, that was first observed in a Korean family residing in Japan (8). To the best of our knowledge, all Hb Ube-4 carriers have been found in Korea or Japan (9). This hemoglobin varian...

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[33] Thermal denaturation procedures for hemoglobin

Olsen

1994

Methods in Enzymology

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Urea polyacrylamide gel electrophoresis of PCMB precipitate as a sensitive test for the detection of the unstable hemoglobin subunit

Cited by 20 publications

References 12 publications

Molecular and clinical characteristics of Hemoglobin Ottawa detected in a Chinese population

Molecular and clinical characteristics of Hemoglobin Ottawa detected in a Chinese population

Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hbï¿½Ube‑2 [α68 (E17) Asn→Asp] and Hbï¿½Ube‑4 [α116 (GH4) Glu→Ala]

[33] Thermal denaturation procedures for hemoglobin

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