I. Iuchi

Hemoglobin hikari (α2Aβ261AspNH2: A fast-moving hemoglobin found in two unrelated japanese families☆

Abstract A new, fast-moving abnormal hemoglobin, designated Hb Hikari, was discovered in two independent Japanese families without any marital relation. This hemoglobin is not associated with any clinical and hematological manifestations. Electrophoretically it migrates between Hb A and Hb N at pH 8.6. It produces a layer intermediate between Hb F and Hb A on Amberlite IRC 50 chromatography. The abnormal hemoglobin is contained in the hemolysate more abundantly (about 60%) than Hb A. Detailed chemical study of the hemoglobin has established that it can be expressed by the formula (α2Aβ261AspNH2.

Hemoglobin Hijiyama: A New Fast-Moving Hemoglobin in a Japanese Family

A variant of hemoglobin A, named Hb Hijiyama, found in two generations of a Japanese family living in Hiroshima, Japan, has a higher anodal electrophoretic mobility than hemoglobin A; a gain of two negative charges per molecule is indicated. Fingerprinting and amino acid analysis showed the biochemical anomaly to be in the beta chain at residue 120, where lysine is replaced by glutamic acid. In the heterozygote carriers of the abnormal hemoglobin there is no apparent association with clinical or hematologic abnormalities.

Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase – a case of familial cholinesterasemia

A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the DNA of a 47-year-old Japanese woman who visited our hospital complaining of hypertension. The propositus exhibited an unusually low level of BChE activity, whereas her younger sister and her daughter had intermediate levels of BChE activity and her elder sister a normal level. Immunologically, the amount of BChE protein in the serum of the propositus was normal. DNA sequence analysis of the propositus identified a point mutation at codon 199 (GCA --> GTA), resulting in a Ala --> Val substitution. This alteration is one downstream codon from the catalytic active site (Ser, 198). A family study showed her younger sister and her daughter to have the same mutation.

Hemoglobin Hoshida (343 (CD-2) Glu → Gln), a New Hemoglobin Variant Discovered in Japan

An electrophoretically G-like hemoglobin variant, Hb Hoshida, was detected from a ten year old girl and her mother. No clinical and hematological abnormalities were seen in the individuals heterozygous for this mutant gene. Structural studies of this abnormal hemoglobin demonstrated a previously undescribed substitution of β43 (CD-2) Glu → Gin. The proportion of the abnormal hemoglobin in hemolysate was 42,1 per cent. The hemoglobin revealed neither instabilities nor functional abnormalities.

Hemoglobin Takamatsu (β120 (GH 3) Lys → Gln): A New Abnormal Hemoglobin Detected in Three Unrelated Families in the Takamatsu Area of Shikoku

A survey of hemoglobinopathies which was carried out in the Takamatsu district during the period from January to August 1979 detected six families with abnormal hemoglobins. Approximately 6010 inhabitants were screened.Three of these families had the same new Hb variant (Hb Takamatsu β120 Lys → Gln) that has not been previously reported.Existence of a blood relationship among these three families could not be established even after careful family studies.This abnormal hemoglobin was not associated with adverse symptoms and gave normal hematologic findings in the carriers.The isopropanol test was negative, oxygen affinity was within the normal range, and biosynthetic ratio in reticulocytes was around 1.0.One of the difficulties in the structural analysis of this hemoglobin was related to complete superposition of abnormal βXT-12b,13 on a βT-8.9 peptide in the fingerprint of the trypsin digest of aminoethylated aberrant βX chain. This was overcome by collection of abnormal tryptic 3 core (βXT-10-13) from un...

Hemoglobin YUSA (β21 (B3) Asp → Tyr), A New Abnormal Hemoglobin Found in Japan

An electrophoretically slowly moving hemoglobin variant, Hb Yusa, was found in a 48-year-old man, his younger sister and mother. No clinical or hematological abnormalities were seen in the individuals heterozygous for this mutant gene. Structural studies of this abnormal hemoglobin showed a new type substitution of β21(B3) Asp → Tyr. The percentage of the abnormal hemoglobin in the hemolysate was 40.8. The hemoglobin had neither instability nor functional abnormality.

HB Ube-2 (α68[E-17]ASN→ASP): The Second Instance in Japan

A hemoglobinopathy survey was conducted in the Takamatsu district of Kagawa Prefecture between January 1979 and October 1980. A total of 15,957 blood specimens from computer identified individuals was examined (1). This paper describes the structural and functional characterization of one of the variants detected by this survey.

Hb Fukutomi [α126(H9)Asp → Val]: A New Hemoglobin Vart with High Oxygen Affinity

Hb Fukutomi [alpha 126(H9)Asp----Val], a new hemoglobin variant with a high affinity for oxygen (log P50 = 0.201 at pH 7.0, normal = 1.087) was detected in a Japanese male during a screening survey. The amino acid substitution is located in the alpha 1 beta 1 contact of the tetramic molecule. Like other variants of the high oxygen affinity type Hb Fukutomi showed increased resistance to auto-oxidation. The tryptic peptide alpha T-13, that usually forms part of the trypsin-resistant core of the alpha chain, was cleaved off by trypsin in the new variant and released into the soluble fraction.

Abnormal Hemoglobins in the Takamatsu District with Emphasis on Epidemiological Characteristics

A hemoglobinopathy survey totaling 22, 921 specimens was conducted for the past three years in the Takamatsu district. The results were reviewed comprehensively from the aspect of population genetics. Six abnormal hemoglobins were discovered in eighteen families including eleven families with Hb Takamatsu (β 120 Lys → Gln) and three families with Hb Yusa (β 21 Asp → Tyr). It was concluded that hemoglobinopathy in the Takamatsu district was characterized by the presence of 1) variants found only in this district (Hb Takamatsu and Hb Yusa), 2) variants which are rare but widely distributed among Japanese, and 3) rare hemoglobins. A homozygote for the Hb Takamatsu gene was reported.

Hb Albany-Suma (α11 [A9] Lys→Asn), a Hemoglobin Variant with Slightly Elevated Oxygen Affinity in Japan

A fast-moving abnormal hemoglobin was detected in a heterozygous condition from a patient with benign goiter. The hemoglobin has a slight but significant high oxygen affinity. The patient does not show any hematologic abnormality. Structural analysis indicated that a lysine residue normally present at alpha 11 was substituted by an asparagine residue. This substitution which has not been described previously was discovered coincidentally by another laboratory (1). The new variant has been named Hb Albany-Suma to denote the origin of the variant in both the United States and Japan.