The First Case of Hb Köln [β98(FG5)Val→Met] in Korea

Chang, Yoon Hwan; Hur, Mina; Lee, Dongsoon; Park, Sung Sup; Kim, B. K.; Park, S.; Ohba, Yusuke; Hattori, Yukio; Cho, H. I.

doi:10.3109/03630269909005711

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…The first Hb variant in Korea was Hb Queens which was detected from family members of β-thalassemia minor in 1992 [2]. After that, two more Hb variants were founded in hemolytic anemia patients [34]. In 2001, a Korean family with β-thalassemia due to Hb Durham-N.C./Brescia was reported [5].…”

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confidence: 99%

Hemoglobin Kansas: First Korean Family and Literature Review

Jang

Chae

et al. 2017

Ann Lab Med

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confidence: 99%

Hemoglobin Kansas: First Korean Family and Literature Review

Jang

Chae

et al. 2017

Ann Lab Med

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“…It is often found in Europe and America, and has occasionally been reported in Japan, South Korea and Taiwan (1)(2)(3). Hb Ube-1, in which the β98 (FG5) valine residue is replaced by methionine (G→A), is the most frequent unstable hemoglobin.…”

Section: Introductionmentioning

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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