Literature DB >> 933112

Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.

G Stamatoyannopoulos, P E Nute, E Giblett, J Detter, R Chard.   

Abstract

Hb M Hyde Park disease was detected in a girl who for several years was thought to have cyanotic heart disease. The problems of recognizing the condition are outlined and clues to diagnosis are discussed. Evidence for heme loss from the aberrant beta chains of Hb M Hyde Park and production of an unstable molecule is presented. The normal haematological findings in the patient's parents, as well as their blood groups and isozymes, suggest that the occurrence of her Hb M Hyde Park was the result of a fresh mutation.

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Year:  1976        PMID： 933112      PMCID： PMC1013374          DOI： 10.1136/jmg.13.2.142

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  19 in total

1.  Some observations on the physicochemical properties of hemoglobin M-Hyde Park.

Authors:  A Hayashi; T Suzuki; A Shimizu; K Imai; H Morimoto
Journal:  Arch Biochem Biophys       Date:  1968-06       Impact factor: 4.013

2.  Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.

Authors:  R D Koler; R T Jones; R H Bigley; M Litt; E Lovrien; R Brooks; M E Lahey; R Fowler
Journal:  Am J Med       Date:  1973-10       Impact factor: 4.965

3.  Molecular pathology of human haemoglobin.

Authors:  M F Perutz; H Lehmann
Journal:  Nature       Date:  1968-08-31       Impact factor: 49.962

4.  Separation of the alpha and beta-chains of human hemoglobin.

Authors:  J B Clegg; M A Naughton; D J Weatherall
Journal:  Nature       Date:  1968-07-06       Impact factor: 49.962

5.  Oxygen equilibrium of hemoglobin M-Hyde Park.

Authors:  H M Ranney; R L Nagel; P Heller; L Udem
Journal:  Biochim Biophys Acta       Date:  1968-05-06

6.  Three-dimensional structure of abnormal human haemoglobins M Hyde Park and M Iwate.

Authors:  J Greer
Journal:  J Mol Biol       Date:  1971-07-14       Impact factor: 5.469

7.  Effect of chronic hypoxic hypoxia on the O2-Hb dissociation curve and respiratory gas transport in man.

Authors:  C Lenfant; P Ways; C Aucutt; J Cruz
Journal:  Respir Physiol       Date:  1969-06

8.  Manual determination of intra-erythrocytic 2,3-diphosphoglycerate in whole blood by enzymatic analysis, and comparison with ion-exchange chromatography.

Authors:  J C Detter; D F Gibson; S F MacMillan; T H Oas
Journal:  Clin Chem       Date:  1975-03       Impact factor: 8.327

9.  Unstable hemoglobins: the role of heme loss in Heinz body formation.

Authors:  H Jacob; K Winterhalter
Journal:  Proc Natl Acad Sci U S A       Date:  1970-03       Impact factor: 11.205

10.  Structural and functional studies on hemoglobin Bethesda (alpha2beta2 145His), a varient associated with compensatory erythrocytosis.

Authors:  H F Bunn; T B Bradley; W E Davis; J W Drysdale; J F Burke; W S Beck; M B Laver
Journal:  J Clin Invest       Date:  1972-09       Impact factor: 14.808
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  3 in total

1.  De novo mutations producing unstable hemoglobins or hemoglobins M : I. Establishment of a Depository and use of data to test for an association of de novo mutation with advanced parental age.

Authors:  G Stamatoyannopoulos; P E Nute; M Miller
Journal:  Hum Genet       Date:  1981-10       Impact factor: 4.132

Review 2.  Recommendations for diagnosis and treatment of methemoglobinemia.

Authors:  Achille Iolascon; Paola Bianchi; Immacolata Andolfo; Roberta Russo; Wilma Barcellini; Elisa Fermo; Gergely Toldi; Stefano Ghirardello; Davis Rees; Richard Van Wijk; Antonis Kattamis; Patrick G Gallagher; Noemi Roy; Ali Taher; Razan Mohty; Andreas Kulozik; Lucia De Franceschi; Antonella Gambale; Mariane De Montalembert; Gian Luca Forni; Cornelis L Harteveld; Josef Prchal
Journal:  Am J Hematol       Date:  2021-09-23       Impact factor: 13.265

3.  First reported case of Haemoglobin-M Hyde Park in a Malay family living in Malaysia.

Authors:  Tang Yee Loong; Doris Lau Sie Chong; A Rahman A Jamal; Nor Azian Abdul Murad; Raja Zahratul Azma Raja Sabudin; Leong Chooi Fun
Journal:  EXCLI J       Date:  2016-11-07       Impact factor: 4.068
  3 in total

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