Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A2 levels

Hemoglobin

Volumn 36, Issue 2, 2012, Pages 177-182

  Saller, Elisabeth ^a   Moradkhani, Kamran ^b   Dutly, Fabrizio ^a   Vinatier, Isabelle ^c   Préhu, Claude ^b   Frischknecht, Hannes ^a   Goossens, Michel ^b  

^a IMD Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

^b HENRI MONDOR HOSPITAL   (France)

^c LABORATOIRE CERBA   (France)

Author keywords

Globin gene cluster; Gene rearrangement; Hb A2 levels; Hemoglobin (Hb); Thalassemia

Indexed keywords

BETA GLOBIN; DELTA GLOBIN; FERRIC HYDROXIDE SUCROSE; HEMOGLOBIN A1C; HEMOGLOBIN A2; HEMOGLOBIN F;

ADULT; ANEMIA; ARTICLE; BETA THALASSEMIA; BLOOD ANALYSIS; CAPILLARY ELECTROPHORESIS; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; DIABETES MELLITUS; DNA STRAND BREAKAGE; FEMALE; FERRITIN BLOOD LEVEL; FUSION GENE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GLOBIN GENE; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN ANALYSIS; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERMENORRHEA; ISOELECTRIC FOCUSING; MALE; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; SIDE EFFECT; SPLENOMEGALY;

ADULT; BETA-THALASSEMIA; DELTA-GLOBINS; DNA; DNA BREAKS; FEMALE; FETAL HEMOGLOBIN; GENE DOSAGE; GENE REARRANGEMENT; GENOTYPE; HEMOGLOBIN A2; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84858132826     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2011.644651     Document Type: Article

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