Hemoglobin Hakkari: An autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene

Pediatric Blood and Cancer

Volumn 54, Issue 2, 2010, Pages 332-335

  Kanathezhath, B ^a   Hazard, F K ^b   Guo, H ^a   Kidd, J ^c   Azimi, M ^c   Kuypers, F A ^c   Vichinsky, E P ^a   Lal, A ^a  

^a CHILDREN S HOSPITAL OAKLAND   (United States)

^b STANFORD UNIVERSITY   (United States)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

Autosomal dominant thalassemia; De novo mutation; Inclusion body thalassemia; Ineffective erythropoiesis; Unstable hemoglobin

Indexed keywords

ARGININE; BETA GLOBIN; HEME; LEUCINE;

ANAMNESIS; ANEMIA; ARTICLE; BETA THALASSEMIA; CASE REPORT; CELL INCLUSION; CLINICAL FEATURE; CODON; DISEASE SEVERITY; ERYTHROPOIESIS; EXON; GENE MUTATION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; PHENOTYPE; PRIORITY JOURNAL;

BETA-GLOBINS; BETA-THALASSEMIA; GUATEMALA; HEMOGLOBINS, ABNORMAL; HUMANS; INCLUSION BODIES; INFANT; MALE; POINT MUTATION;

EID: 74849113636     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22167     Document Type: Article

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