Further Studies on Hemoglobin Hofu, β 126 (H 4) Val ⇒ Glu, with Special Reference to its Stability

Ohba, Yusuke; Matsuoka, M; Fuyuno, K; Yamamoto, K; Nishijima, S.; Miyaji, T

doi:10.3109/03630268108996913

Cited by 12 publications

(2 citation statements)

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“…Also in the United States, Hb Hofu was found in a black subject of 60 years [13], and Brittenham et al [14] found it in several members of two Valmiki families from India. A new case has been reported from Japan [15]. The in ference is that Hb Hofu, being found in so diverse eth nic groups as Japanese, Spaniards, Asiatic Indians and US blacks, should be the product of independent muta tions, as has been suggested by Brittenham et al [14],…”

Section: Discussionmentioning

confidence: 64%

Hemoglobin Hofu Associated with β°-Thalassemia

Arends¹,

Garlín²,

Guevara³

et al. 1985

Acta Haematol

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A mild anemia (hemoglobin 9 g/dl) was found in a patient from Seville (Spain) with marked morphological abnormalities in the peripheral blood smear. The red cell osmotic fragility showed a mild resistance curve with a mean cell fragility (MCF) of 0.375% NaCl (normal = 0.450). Chemical and thermal instability test and search for inclusion bodies gave positive results. Hemoglobin electrophoresis at pH 8.9 revealed absence of Hb A, a major component of fast mobility (94%), and increased Hb F and Hb A₂ levels (1.5% and 4.6%, respectively). The fast fraction, isolated and purified by means of cellulose acetate electrophoresis, precipitated in acid acetone and treated with urea 8 M and mercaptoethanol, revealed an anomalous β chain. Trypsindigested globin peptides were separated by high-voltage electrophoresis at pH 6.4 and ascendant chromatography. With differential staining, an extra peptide was detected in an unusual site, more anodic than αTp4 but in lower position. Peptide map of the fast β chain, stained with ninhydrin, and also for Tyr, confirmed the position of the new peptide and the absence of the usual βTp13. The new peptide, separated by high-voltage electrophoresis at pH 3.5, reveled absence of Val and the presence of an additional Glu residue, which should appear only in position β 126. The diagnosis of Hb Hofu (α₂β₂ 126 Val→Glu; H4) was reached, thus interpreting its increase and the absence of Hb A, as an association with β°-thalassemia, producing a mild hemolytic anemia. Evidence was obtained that Hb Hofu is a mild unstable hemoglobin variant.

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Section: Discussionmentioning

confidence: 64%

Hemoglobin Hofu Associated with β°-Thalassemia

Arends¹,

Garlín²,

Guevara³

et al. 1985

Acta Haematol

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“…La hemoglobina Hofu parece ser muy rara, característicamente en su forma heterocigota no va asociada a síntomas. Reportada originalmente en Japón en 1968 y posteriormente en varios casos más en ese mismo país (30,31), ha sido también encontrada en España en donde se han descritos más de 11 casos (32).…”

Section: Discusionunclassified

Hemoglobina O arabia y hemoblobina Hofu: Reporte de tres familias en el Perú.

Hazan¹,

Navarro²,

Márquez³

et al. 2013

Rev Med Hered

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We report the finding of two abnormal hemoglobins in three Peruvian families: hemaglobin O Arab and Hemoglobin Hofu. In the first case the patient was found to be double heterozygous for hemoglobin O Arab/β thalassaemia and presents a moderate chronic hemolytic anemia. In the second family the propositus had a severe chronic of hemoglobin A/O Arab were asymptomatic. In the third case we report a family with a very mild chronic hemolytic anemia due to the presence of hemoglobyn Hofu. These two abnormal hemoglobin O Arabia was introduced in Peru and described the methodology used in the Laboratory to characterize the abnormal hemoglobins.

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