Hb Haaglanden: A new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants

International Journal of Laboratory Hematology

Volumn 34, Issue 5, 2012, Pages 551-555

  Harteveld, C L ^a   Ponjee, G ^b   Bakker Verweij, M ^a   Arkesteijn, S G J ^a   Phylipsen, M ^a   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Department of Clinical Chemistry   (Netherlands)

Author keywords

HbS; Sickle cell disease; Sickle test

Indexed keywords

BETA GLOBIN; DNA; HEMOGLOBIN HAAGLANDEN; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; DNA SEQUENCE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; ANEMIA, SICKLE CELL; BASE SEQUENCE; BETA-GLOBINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, CAPILLARY; GENETIC TESTING; HEMOGLOBIN, SICKLE; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; POINT MUTATION; RISK ASSESSMENT; RISK FACTORS;

EID: 84865569472     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/j.1751-553X.2012.01424.x     Document Type: Article

References (8)

1. Van Delft P, Lenters E, Bakker-Verweij M, de Korte M, Baylan U, Harteveld CL, Giordano PC. Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol 2009;31:484-95.
2. Daland GA, Castle WB. A simple and rapid method for demonstrating sickling of the red blood cells: the use of reducing agents. J Lab Clin Med 1948;33:1082-8.
3. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
4. Giordano PC, Maatman RG, Niessen RW, van Delft P, Harteveld CL. Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient. Haematologica 2006;19(12 Suppl):ECR56.
5. Ingram VM. A specific chemical difference between globins of normal and sickle-cell anemia hemoglobins. Nature 1956;178:792-4.
6. Harteveld C, Plug RJ, Van Delft P, Van Helden WC, Giordano PC. Hb 't Lange Land [beta136(H14)Gly --> Arg]: a new hemoglobin variant described in a Dutch patient of Chinese origin. Hemoglobin 2001;25:331-6.
7. Kaufmann JO, Harteveld CL, Bakker-Verweij M, Arkesteijn SG, van Delft P, Haak H, Wijermans PW, Kerkhoffs JL, Giordano PC. Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics. Hemoglobin 2010;34:37-44.
8. Itano HA. Solubilities of naturally occurring mixtures of human hemoglobin. Arch Biochem Biophys 1953;47:148-59.