Hemoglobin J Cairo: beta 65 (E9) Lys leads to Gln, A new hemoglobin variant discovered in an Egyptian family. 1976

M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous

The present report describes clinical, hematological and biochemical studies of a 27-year old Egyptian woman in whom a fast moving Hb variant was found. The abnormal Hb constituted 48% of the total erythrocyte Hb of the propositus and her father. Structural studies demonstrated that in the abnormal Hb lysine beta 65 is replaced by glutamine. The new Hb mutant is designated hemoglobin J Cairo beta 65 (E9) Lys leads to Gln. This substitution results in only a moderate decrease in cooperativity. No evidence of Hb instability was found. A slight anemic state has been observed in the propositus since she reached adolescence.

UI MeSH Term Description Entries
D008239 Lysine An essential amino acid. It is often added to animal feed. Enisyl,L-Lysine,Lysine Acetate,Lysine Hydrochloride,Acetate, Lysine,L Lysine
D008297 Male Males
D010108 Oxyhemoglobins A compound formed by the combination of hemoglobin and oxygen. It is a complex in which the oxygen is bound directly to the iron without causing a change from the ferrous to the ferric state. Oxycobalt Hemoglobin,Oxycobalthemoglobin,Oxyhemoglobin,Hemoglobin, Oxycobalt
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010446 Peptide Fragments Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques. Peptide Fragment,Fragment, Peptide,Fragments, Peptide
D011485 Protein Binding The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. Plasma Protein Binding Capacity,Binding, Protein
D004534 Egypt A country in northern Africa, bordering the Mediterranean Sea, between Libya and the Gaza Strip, and the Red Sea north of Sudan, and includes the Asian Sinai Peninsula Its capital is Cairo. Arab Republic of Egypt,United Arab Republic
D005260 Female Females
D005973 Glutamine A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells. D-Glutamine,L-Glutamine,D Glutamine,L Glutamine
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins

Related Publications

M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1981, Hemoglobin,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1978, Hemoglobin,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
February 1974, FEBS letters,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
December 1977, FEBS letters,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1983, Hemoglobin,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1975, Nouvelle revue francaise d'hematologie,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1982, Hemoglobin,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1981, Hemoglobin,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
April 1980, Biochimica et biophysica acta,
M C Garel, and W Hassan, and M T Coquelet, and M Goossens, and J Rosa, and N Arous
January 1990, Hemoglobin,
Copied contents to your clipboard!