Clinical presentation of the hemoglobin Youngstown variant in a Chinese family
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Hematology
Presentation (obstetrics)
Hemoglobin variants
Structural characterization of a new variant of human hemoglobin (adult), designated hemoglobin Freiburg, indicates the deletion of the valyl residue No. 23 from an otherwise normal beta-chain. The formula may be written (alpha2)beta(2)(23val-0). The abnormal hemoglobin is present with hemoglobin A in the proposita and in two of her three living children, but is not detectable in her parents. We postulate that this variant represents a triplet base deletion which most likely resulted from an unequal crossing-over between two normal betachain loci during meiosis in one of the parents of the proposita.
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Hemoglobin variants
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During a routine hematological investigation, a slowly-moving hemoglobin variant was detected in a 2-year-old child from Maputo (Mozambique) in combination with hemoglobin S. Structural studies carried out by HPLC demonstrated a previously unreported amino acid substitution, β 47 (CD6) Asp→Tyr. The new hemoglobin variant has been named hemoglobin Maputo.
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Hemoglobin South Florida is a recently identified hemoglobin variant that is not associated with any clinical disorder. The standard electrophoretic procedures routinely utilized to identify hemoglobin variants did not recognize hemoglobin South Florida. The acelylated form of this hemoglobin co-elutcd with hemoglobin A1c on a Bio-Rex 70 column. The quantity of this hemoglobin component was consistent with the amount of hemoglobin A1c associated with uncontrolled diabetes mellitus. The affected individuals did not have diabetes. This observation led to the characterization of a hemoglobin variant that otherwise would have gone unrecognized. This is an example of a variant peptide that was unrecognized for two generations in one family. It is likely that this type of unrecognized peptide variation is common in mammals. These silent structural alterations may be responsible for the variable physical responses occurring in humans exposed to the same environmental agents.
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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.
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<i>Objective:</i> To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. <i>Materials and Methods:</i> Genomic DNA was obtained from the 4 members of a family living in Denizli province, an Aegean region of Turkey. Blood cell counts, hemoglobin composition, hemoglobin electrophoresis (both alkaline and acid), HPLC analysis, DNA sequencing and beta globin gene cluster haplotypes were done. <i>Results:</i> Hb Yaizu carriers were apparently healthy individuals. Hb Yaizu was slightly faster than Hb S at alkaline pH, but slower than Hb S at acidic pH in hemoglobin electrophoresis. An abnormal hemoglobin peak was observed with a retention time of 4.77 min in HPLC analysis attributed to Hb Yaizu. Two members of the family were heterozygous Hb Yaizu [beta 79(EF3) Asp>Asn] confirmed by DNA sequencing. The mutation was found to be linked with the Mediterranean haplotype I [+––––++]. <i>Conclusion:</i> We have presented the details of Hb Yaizu, a rare hemoglobin variant that may be important to hemoglobinopathy screening programs, although its clinical significance is unclear.
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A hemoglobin with the electrophoretic properties of hemoglobin K or J was found in three generations of a Canadian family in Saskatoon. By analysis of the tryptic peptides of the whole globin and of the isolated abnormal α chains, it was characterized as α 90 Lys → Asn (hemoglobin Broussais). This is the second report of the occurrence of this hemoglobin variant.
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