Four new variants of the α2-globin gene without clinical or hematologic effects: Hb Park Ridge [α9(A7)Asn→Lys (α2)], Hb Norton [α72(EF1)His→Asp (α2)], Hb Lombard [α103(G10)His→Tyr (α2)], and Hb San Antonio [α113(GH2)Leu→Arg (α2)]

Hemoglobin

Volumn 26, Issue 2, 2002, Pages 175-180

  Hoyer, James D ^a   McCormick, Daniel J ^b   Snow, Karen ^a   Kwon, Jong H ^c   Booth, David ^d   Duarte, Manuel ^e   Grayson, Guy ^f   Kubik, Kathleen S ^a   Holmes, Michael W ^b   Fairbanks, Virgil F ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c Lutheran General Children's Hospital   (United States)

^d Norton Family Practice Clinic   (United States)

^e National University of Health Science   (United States)

^f Pediatric Hematology and Oncology Associates of South Texas   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; HISTIDINE; LEUCINE; GLOBIN; HEMOGLOBIN VARIANT;

ADULT; ALPHA THALASSEMIA; ALPHA2 GLOBIN GENE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHROMATOGRAPHY; DNA SEQUENCE; ELECTROPHORESIS; GENE; HEMATOLOGY; HEMOLYTIC ANEMIA; HUMAN; INFANT; ISOELECTRIC FOCUSING; MALE; MASS SPECTROMETRY; MICROCYTOSIS; POLYMERASE CHAIN REACTION; PROTEIN VARIANT; ELECTROSPRAY MASS SPECTROMETRY; GENETIC VARIABILITY; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS; UNITED STATES;

ADULT; DNA MUTATIONAL ANALYSIS; GLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; INFANT; MALE; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; UNITED STATES; VARIATION (GENETICS);

EID: 18444396272     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120005456     Document Type: Article

References (17)

1. Hb Chile [β28(B10)Leu→Met]: An unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia
2. Hb Washtenaw [β11(A8)Val→Phe]: An electrophoretically silent, unstable, low oxygen affinity variant associated with anemia and chronic cyanosis
3. Hb T-Cambodia a β chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis
4. Measuring relative electrophoretic mobilities of mutant hemoglobins and globin chains
5. Hb Delfzicht [α9(A7)Asn→Lys (α1)]: A new, clinically silent hemoglobin variant observed in a Dutch patient
6. Hemoglobin Ankara [β10 (A 7) Ala→Asp] properties and biosynthesis
7. Hb Gouda [α72(EF1)His→G1n], a new silent α chain variant
8. Two new α chain variants: Hb Fuchu-I [α72(EF1)His→Tyr] and Hb Fuchu-II [α97(G4)Asn→His]
9. A
10. 2 77 His→Asp)
11. Hb Fukuyama [β77(EF1)His→Tyr]: A new abnormal hemoglobin discovered in a Japanese
12. 277(EF1)His→Arg; the first example of a somatic cell mutation in a globin gene
13. A new β chain variant, Hb Vienna or β77(EF1)His→Gln
14. Two new α chain variants: Hb Boghé [α58(E7)His→Gln, α2], a variant on the distal histidine, and Hb Charolles [α103(G10)His→Tyr, α1]
15. 2 by high performance liquid chromatography
16. Hemoglobin twin peaks α113(GH1)Leu→His