Diagnosis and Characterization of Hb C/Hb Iowa: A Rare but Easily Misidentified Compound Heterozygous Condition

Hemoglobin

Volumn 28, Issue 1, 2004, Pages 7-13

  Somjee, Saika ^a   Yu, Lolie C ^a   Hagar, Arthur F ^b   Hempe, James M ^a,c  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Louisiana Office of Public Health   (United States)

^c CHILDREN S HOSPITAL   (United States)

Author keywords

Hb C; Hb Iowa; Hemoglobin (Hb) variant; Neonatal screening

Indexed keywords

ALANINE; BETA GLOBIN; CELLULOSE ACETATE; CITRIC ACID; GLUTAMIC ACID; GLYCINE; HEMOGLOBIN A; HEMOGLOBIN C; HEMOGLOBIN F; HEMOGLOBIN IOWA; HEMOGLOBIN S; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG; VALINE;

AFRICAN AMERICAN; AGAR GEL ELECTROPHORESIS; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BLOOD ANALYSIS; CASE REPORT; DIAGNOSTIC ERROR; DISEASE SEVERITY; DNA SEQUENCE; ERYTHROCYTE COUNT; FEMALE; HEMOGLOBIN C DISEASE; HEMOGLOBIN DETERMINATION; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; ISOELECTRIC FOCUSING; ISOELECTRIC POINT; MEAN CORPUSCULAR VOLUME; NEWBORN SCREENING; PHENOTYPE; SICKLE CELL ANEMIA;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; AMINO ACID SUBSTITUTION; FEMALE; HEMOGLOBIN C; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; INFANT, NEWBORN;

EID: 1342323874     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120028882     Document Type: Article

References (4)

1. 2119(GH2)Gly→Ala. Hemoglobin 1990; 14(4):423-429.
2. Sack JS, Andrews LC, Magnus KA, Hanson JC, Rubin J, Love WE. Location of amino acid residues in human deoxy hemoglobin. Hemoglobin 1978; 2(2):153-169.
3. Hempe JM, Craver RD. Laboratory diagnosis of structural hemoglobinopathies and thalassemias by capillary isoelectric focusing. In: Palfrey SM, ed. Clinical Applications of Capillary Electrophoresis. Methods in Molecular Medicine. Vol. 27. Totowa: Humana, 1999; 81-98.
4. Hempe JM, Granger JG, Craver RD. Capillary isoelectric focusing of hemoglobin variants in the pediatric clinical laboratory. Electrophoresis 1997; 18(10):1785-1795.