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T Harano

Publications and source records attributed to T Harano.

At least 91 records · Page 5Linked to original sources
PubMed1987

One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population.

Blood samples from normal adults and from members of seven families with the Swiss type of hereditary persistence of fetal hemoglobin (HPFH) from Yugoslavia were analyzed for their fetal hemoglobin (Hb F) and G gamma levels, while haplotyping defined the chromosomes at eight or nine polymorphic restriction sites. The data indicate that Swiss-HPFH, characterized by slightly elevated Hb F and G gamma levels and no recognizable hematological abnormality, is associated with a chromosome whose restriction enzyme haplotype is identical to the no. 3 (Senegal) haplotype found in black sickle cell (SS) patients. Many adults with this chromosome have high G gamma but normal Hb F levels. It is suggested that the Swiss-HPFH phenotype results from the action of more than one factor; one is linked to the beta-globin gene cluster and causes high G gamma values, while others result in an increased Hb F production and are perhaps of different origins.

Adult↗
PubMed1986

G gamma A gamma(delta beta)zero-thalassaemia and a new form of gamma globin gene triplication identified in the Yugoslavian population.

Among several hundred apparently healthy Yugoslavian adults with slightly elevated levels of fetal haemoglobin, we have identified two distinct abnormalities. (a) A G gamma A gamma(delta beta)0-thalassaemia heterozygosity with an approximately 15 kb deletion which involves part of the delta globin gene and the beta globin gene. This deletion is probably the same as that seen among Italians (Ottolenghi et al, 1982; Carè et al, 1984). (b) A nondeletion form of hereditary persistence of Hb F which is caused by a gamma globin gene triplication of the (+)G gamma.(+)G gamma.A gamma type. It is characterized by the presence of some 5% Hb F in the heterozygote containing nearly 100% G gamma chains. The C----T mutation at position--158 5' to the G gamma chain [(+)G gamma], identified through analyses of Xmn I digests, was present at both G gamma globin genes. This mutation is known to be associated with increased G gamma chain production (Gilman & Huisman, 1985), and thus is responsible for the increased G gamma chain production in these heterozygotes. The condition is different from the (+)G gamma.(+)G gamma nondeletion type of HPFH which has been observed in heterozygotes of two Black families, and is associated with the presence of 3-4% Hb F (with mainly G gamma chains) in heterozygotes.

Adolescent↗
PubMed1986

Abnormal arrangements in the alpha- and gamma-globin gene clusters in a relatively large group of Japanese newborns.

Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in alpha-globin gene and gamma-globin gene arrangements using gene mapping and gamma-chain composition analyses. The results confirmed the rarity of alpha-thalassemia among Japanese; only a few babies had alpha-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had alpha-globin gene triplications (both the alpha alpha alpha anti-3.7 and the alpha alpha alpha anti-4.2 types). Among the gamma-globin gene anomalies that were observed, a few babies had the -A gamma-A gamma- globin gene arrangement or the -G gamma A gamma- type of deletion. The gamma-chain triplication (-G gamma-A gamma G gamma-A gamma-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -G gamma A gamma- deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the gamma-globin gene deletion and triplication. The A gamma T variant, which is the product of a mutant A gamma-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant A gamma gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with beta-thalassemia.

Chromosome Mapping↗
PubMed1985

gamma-Globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3'-A gamma-globin gene.

Cord blood samples of 113 Japanese babies from Kurashiki, Japan, were analyzed for the presence of possible modifications in gamma-globin gene arrangements and for changes in the relative quantities of the gamma chains G gamma, A gamma, and its variant A gamma T. As many as 9 babies had the gamma-globin gene triplication, one a gamma-globin gene quadruplication, and two a gamma-globin gene deletion. The triplication and quadruplication involved cross-overs within the G gamma- and A gamma-globin genes resulting in a hybrid gene with the 5'-segment being derived from the A gamma and the 3'-segment from the G gamma-globin gene (-AG gamma-). The G gamma value of the 9 babies with the -G gamma-AG gamma-A gamma-globin gene arrangement averaged approximately 80% and that of the baby with -G gamma-AG gamma-AG gamma-A gamma- was 78%. Four of the 9 babies with the triplication and the baby with the quadruplication had an A gamma T mutation in trans; in these babies, the A gamma chain level (from the A gamma-globin gene in 3'-position in the tri- and quadruplication arrangements) was decreased to about one-third and one-sixth of the level observed in the simple A gamma T heterozygote. This observation supports the suggestion that transcription beginning at the 5'-gamma-globin gene interferes with that of the 3'-gamma-globin gene.

Asian People↗
PubMed1985

Two arrangements of the human fetal globin genes may be responsible for high G gamma values in Chinese newborns: -G gamma-G gamma-delta-beta and -G gamma-A gamma G gamma-A gamma-delta-beta.

High G gamma values (78% and higher) have been observed in about 3% of Chinese newborns from the Shanghai area. We describe here two arrangements different from the normal -G gamma-A gamma-delta-beta arrangement which have been characterized in the DNA from three of these babies. One baby was heterozygous for a chromosome with two linked G gamma globin genes (-G gamma-G gamma-delta-beta), which has also been observed in Black newborns [Powers et al, Nucleic Acids Res 12:7023, 1984], while the two other babies were heterozygous for a chromosome with triplicated gamma globin genes, presumably of the -G gamma-A gamma G gamma-A gamma-delta-beta arrangement. A similar triplication has been observed in natives of the New Hebrides [Trent et al, Nucleic Acids Res 9:6723, 1981].

Asian People↗
PubMed1985

Haplotypes and levels of fetal hemoglobin and G gamma to A gamma ratios in Mediterranean patients with thalassemia minor and major.

This study concerned the gamma chain composition of Hb F and the haplotypes of 44 patients with beta-thalassemia major or intermedia and many of their relatives. Seventeen patients came from Northern (Turkish) Cyprus, 12 from the Istanbul area, and 15 from Macedonia and Bulgaria. Analysis of the A gamma T-G gamma-A gamma I ratio was made by HPLC, while haplotyping involved seven restriction sites. Specific haplotypes were present in certain populations; haplotype I [1] is the dominant type among North Cypriot thalassemia patients. Numerous types were seen in the patients from the Balkan countries. A direct relationship between the A gamma to G gamma ratios and the haplotypes, which exists among black beta-thalassemia heterozygotes [3], was also observed among these Mediterranean patients, although such analyses were considerably complicated by extensive blood transfusion therapy. Haplotypes without the Hinc II restriction site within the psi beta gene were associated with lower G gamma values than those that had this polymorphic site. The A gamma T chain was observed in a small number of beta-thalassemia homozygotes and heterozygotes. Three thalassemia chromosomes with slightly different haplotypes and one normal chromosome with a related haplotype were associated with the gamma 75 Ile----Thr substitution. A few patients with a thalassemia intermedia were heterozygotes for beta-thalassemia with either haplotypes V or VII [1] while the "nonthalassemic" chromosome had a haplotype I, which is the most common "beta-thalassemic" haplotype among the Mediterranean population(s). Detailed analyses of this chromosome have not been completed.

Adolescent↗
PubMed1985

Five haplotypes in Black beta-thalassaemia heterozygotes: three are associated with high and two with low G gamma values in fetal haemoglobin.

Genotypes at seven different polymorphic restriction sites (5' to the epsilon gene, at the G gamma, at the A gamma, at the psi beta, 3' to the psi beta, at the beta, and 3' to the beta genes) were analysed by restriction endonuclease mapping of the DNA from 66 Black beta-thalassaemia heterozygotes from Georgia and several of their normal relatives. Five different haplotypes were observed. Three of these were associated with high G gamma values in the small amount of Hb F (0.8-8.3%) present in the blood of these patients and two with low G gamma values. One haplotype [- + - + + + +] that occurred on two of every three beta thalassaemia chromosomes was associated with high G gamma levels, and is the same as that found in some Black SS patients also having high G gamma values (Gilman & Huisman, 1984). Two others [- + + - + - +] and [- + - - + + +] were also associated with high G gamma, while two [- - - - + + +] and [+ - - - - + +] were associated with low G gamma. Variation in haematological data, mainly MCV and MCH values, was found to be caused in part by the type of beta-thalassaemia (defined by its haplotype) and by the presence of an additional alpha-thalassaemia-2 heterozygosity or homozygosity.

Alleles↗