Hemoglobinopathy York [β146 (HC3) His⇒Pro]: First report of a family history

Annals of Hematology

Volumn 80, Issue 6, 2001, Pages 365-367

  Misgeld, E ^a   Gattermann, N ^a   Wehmeier, A ^b   Weiland, C ^c   Peters, U ^c   Kohne, E ^d  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b Department of Neurology   (Germany)

^c Krankenhaus Maria Hilf   (Germany)

^d UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

Autosomal dominant condition; Erythrocytosis; Hb York; Hemoglobinopathy; Oxygen affinity

Indexed keywords

ADENINE; CYTOSINE; DNA; ERYTHROPOIETIN; HISTIDINE; OXYGEN; PROLINE; HEMOGLOBIN VARIANT; OXYHEMOGLOBIN;

ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CODON; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ERYTHROCYTOSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; HEMOGLOBINOPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; MOTHER; OXYGEN AFFINITY; OXYGEN DISSOCIATION CURVE; PH; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SIBLING; AGED; DOMINANT GENE; FAMILY HEALTH; GENETICS; HEMOGLOBIN YORK; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POLYCYTHEMIA;

AGED; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; OXYGEN; OXYHEMOGLOBINS; PEDIGREE; POINT MUTATION; POLYCYTHEMIA;

EID: 0034743433     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002770100299     Document Type: Article

References (8)

1. Altered C-terminal salt bridges in haemoglobin York cause high affinity
2. 145His), a variant associated with compensatory erythrocytosis
3. Inhibition of Bohr effect after removal of C-terminal histidines from haemoglobin β-chains
4. Characterization and properties of Hb York (β146 His⇒Pro)
5. Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect
6. Identification of residues responsible for the alkaline Bohr effect in haemoglobin
7. Stereochemistry of cooperative effects in hemoglobin