Molecular diagnosis of a case of Hb Phnom Penh [α117(GH5)Phe-I1e- α118(H1)Thr (α1)]

Hemoglobin

Volumn 30, Issue 3, 2006, Pages 397-399

  Leung, Rock Y Y ^a   Ma, Edmond S K ^b   Chan, Amy Y Y ^c   Chow, Eudora Y D ^a  

^a UNITED CHRISTIAN HOSPITAL   (Hong Kong)

^b HONG KONG SANATORIUM AND HOSPITAL   (Hong Kong)

^c QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

Cambodia; Chinese; Hb Phnom Penh; Thalassemia (thal)

Indexed keywords

DNA; GLYCOSYLATED HEMOGLOBIN; HEMOGLOBIN PHNOM PENH; HEMOGLOBIN VARIANT; PHENYLALANINE; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA SEQUENCE; FEMALE; GENE MUTATION; HEMOGLOBINOPATHY; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PREDICTION;

ADULT; ANEMIA, HYPOCHROMIC; BLOOD PROTEIN ELECTROPHORESIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; GLOBINS; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE DETECTION; HUMANS; PREGNANCY; SEQUENCE ANALYSIS, DNA;

EID: 33746262977     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260600755906     Document Type: Article

References (3)

1. Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-delerion multiplex polymerase chain reaction assay for α-thalassemia. Blood 2001; 98(1):150-151.
2. 3.7 deletion by heteroduplex formation. Hemoglobin 2002; 26(3):311-306.
3. Wajcman H, Prehu MO, Prehu C, Blouquit Y, Prome D, Galacteros F. Hemoglobin Phnom Penh [α117Phe(H1)-Ile-α118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the α1-globin gene. Hum Mutat 1998; 1(Suppl):S20-S22.