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Biomedical subjects

J B Wilson

Publications and source records attributed to J B Wilson.

At least 235 records · Page 13Linked to original sources
PubMed1982

Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant.

Two alpha-chain variants, Hb G-Philadelphia and Hb Matsue-Oki, were present in members of a relatively large black family from South Carolina. The four Hb G-Philadelphia heterozygotes averaged 35.6% Hb G, suggesting the presence of an alpha-thalassemia-2 condition in cis to the Hb G mutation, which was confirmed by DNA structural analysis. The seven Hb Matsue-Oki heterozygotes averaged 22.2% Hb MO and likely have four active alpha-chain genes. One infant was a compound heterozygote for the two Hb variants which could not be separated from each other. The quantity of Hb G plus Hb MO was 58% by DEAE-cellulose chromatography and 69% by chain analyses. These results and the family data indicate that this child had three active alpha-chain genes, of which one regulated the synthesis of the normal alpha chain, one was mutated to give the alpha G chain, and one to give the alpha MO chain. The amino acid substitutions in Hb G-Philadelphia and Hb Matsue-Oki are located in the tryptic peptide alpha T-9, which is 29 amino acid residues long. Structural analyses of these abnormalities made use of high-pressure liquid chromatography for the separation of both tryptic and thermolytic peptides and of a highly sensitive ultra-micro sequencing procedure. Although the alpha 68 Asn replaced by Lys substitution is readily demonstrable in Hb G-Philadelphia the elucidation of the alpha 75 Asp replaced by Asn replacement in Hb Matsue-Oki was greatly facilitated by the use of these microprocedures.

Adolescent↗
PubMed1982

An unusual phenotypic expression of Hb-Leiden.

After a boy of Mexican-American descent became jaundiced during treatment of a serious urinary tract infection with an oxidant drug, an extensive hematological examination was made. The important finding was the presence of Hb-Leiden to the extent of less than 3% or about a tenth of the usual percentage. Although inclusion bodies are present in the erythrocytes at all times, his hematological parameters have remained normal. The genetic basis for the unusually small amount of Hb-Leiden in the propositus may be due to the Hb-Leiden gene in an anti-Lepore configuration, that is, and Hb-Leiden gene in cis to the normal beta and delta genes.

Anemia, Hemolytic↗
PubMed1982

Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.

An Indian family is described in which the father has a delta chain abnormal hemoglobin which is the result of a mutation of the delta gene in cis to a beta-thalassemia heterozygosity. The abnormality concerns a substitution of the Asp residue in position 99 (G1) by an Asn residue. A similar substitution has been found in the beta chain of Hb Kempsey (alpha 2 beta 2 99 Asp replaced by Asn). The observed abnormality results in a greatly increased oxygen affinity of this newly discovered Hb A2 variant.

Adolescent↗
PubMed1982

Further studies on the quantitation of the hemoglobins A, S, C, and F in newborn babies with different hemoglobinopathies using high pressure liquid chromatography.

High pressure liquid chromatography (HPLC) has been used for the detection and quantitation of the beta chain variants Hb S and Hb C in blood samples of newborn babies with different hemoglobinopathies. The complete separation of the Hbs C, S, A, and F made it possible to diagnose conditions such as AS AC, SS, CC, SC and even S(C)-beta+ thalassemia. The procedure is fast (62 min) and ideally suited for the quantitation of Hb F at birth. Data for a few hundred cord blood samples indicate a great variability in the relative quantities of Hb S or Hb C in heterozygotes which prevents a definitive diagnosis of a simultaneously occurring alpha-thalassemia except perhaps of the homozygous form of alpha-thalassemia-2 (alpha o alpha/alpha o alpha). The large spread in the data also shows some overlap between the quantitative results in Hb S (or Hb C) heterozygotes and in babies with the Hb S (Hb C)-beta-thalassemia condition.

Chromatography, High Pressure Liquid↗
PubMed1982

The percentages of Hb F and of G gamma and A gamma chains in the Hb F synthesized by reticulocytes and BFUe-derived colonies of patients with sickle cell anemia.

The synthesis of Hb F was studied in the BFUe-derived colonies of 20 SS patients after incubation with 35S methionine for 24 hours, 13 days after the start of the experiments. Similar analyses were made for isolated reticulocytes from 28 SS patients; these cells were incubated for 2 hours and occasionally for 24 hours. The G gamma and A gamma percentages were determined in these two Hb F preparations and in the Hb F of circulating red cells using two different HPL chromatographic procedures. The data show an increased production of Hb F in the colonies mainly of patients with low blood Hb F values. A close correlation was present between the % G gamma chain in peripheral red cells and the G gamma percentages observed for the Hb F synthesized in the BFUe-derived colonies and that in reticulocytes. However, the values for the reticulocytes were significantly higher than those for the colonies. These data indicate a considerable variability among SS patients in their ability to produce Hb F in in vitro colonies which may in part be due to differences in the numbers of BFUe types in circulation. The variation in G gamma and A gamma levels in Hb F synthesized in reticulocytes and BFUe-derived colonies could be the result of slight differences in the stability of the corresponding mRNA's.

Adolescent↗
PubMed1982

Hb F-Columbus-Ga or alpha 2 G gamma 2 94(FGl) Asp replaced by Asn.

A new gamma chain variant with an electrophoretic mobility at pH 8.1 between those of Hb S and Hb C was isolated and quantitated by DEAE-cellulose chromatography. It was readily identified with the use of various micro-chromatographic and sequencing procedures as alpha 2 G gamma 2 94(FGl)Asp replaced by Asn. The hemoglobin was named Hb F-Columbus-Ga. The quantity of this G gamma chain variant (as % total gamma chain) was about 39% and the percentages of the normal G gamma and A gamma I chains were 37% and 24%, respectively.

Amino Acid Sequence↗
PubMed1982

Hb F-Bonaire-Ga or alpha 2 A gamma 2 39(C5) Gln replaced by Arg, characterized by high pressure liquid chromatographic and microsequencing procedures.

A slowly moving gamma chain variant was discovered in the cord blood of a baby of English-Vietnamese descent. The abnormality concerned the substitution of Gln residue in position 39(C5) of the A gamma chain by an Arg residue resulting in an -Arg-Arg- sequence at positions 39 and 40. The quantity of the A gamma chain variant was nearly 10% of the total Hb F with 15% of the Hb F having normal A gamma chains and 75% of Hb F having G gamma chains. High pressure liquid chromatographic and microsequencing methods greatly facilitated the structural analyses.

Amino Acid Sequence↗
PubMed1982

Abnormal hemoglobins in Northwestern Mexico.

Blood samples from 9,929 individuals in Northwestern Mexico were assayed for abnormal hemoglobins (Hbs). alpha-thal, beta-thal, beta s and beta c traits, as well as rare abnormal Hbs were observed with variable low frequencies (0 to 0.45%). Eight out of eleven rare abnormal Hbs detected so far have been characterized: Three Hb Riyadh, one Hb J Georgia, one Hb Fannin-Lubbock, one Hb Chiapas and two Hb Tarrant. These results suggest that abnormal Hbs do not constitute a regional public health problem and reflect a wide ethnologic heterogeneity.

Female↗
PubMed1981

Hb F-Meinohama or alpha 2 gamma 2 (5 Glu replaced by Gly; 75 Ile; 136 Gly).

During a survey of blood samples from newborn babies, a new fetal hemoglobin variant was observed which had a substitution of the normally occurring glutaminyl residue at position gamma 5 (A2) for a glycyl residue. The abnormal gamma chain had an isoleucyl residue at position 75 and a glycyl residue at position 136.

Amino Acids↗
PubMed1981

Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families.

Two Mexican families from the State of Jalisco have been studied in which 11 members were carriers of Hb Tarrant. Ten subjects were Hb Tarrant heterozygotes producing about 25% of the abnormal hemoglobin. One 9-year-old boy was homozygous for Hb Tarrant. About 50% of his hemoglobin was of the variant type. The heterozygotes had mild erythrocytosis which was considerably more severe in the homozygote. The average P50 value for blood of the heterozygote was 15.1 mm Hg (controls: 22.5 mm Hg) while this value was decreased to 9 mm Hg in the homozygote. The clinical condition of the homozygote is compatible with a mild chronic tissue hypoxia.

Aspartic Acid↗
PubMed1981

Hb Wuming or alpha 2 11(A9)Lys substituting for Gln beta 2.

A fast-moving hemoglobin variant was found in five members of a Chinese family of the Wuming district. The relative amount of this alpha chain variant in the heterozygote was about 20%. The abnormality caused no ill effects in its carriers. Sequence analysis identified a Lys substituting for Gln substitution at position alpha-11 (A9).

Adult↗