A novel telomeric (~285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

Haematologica

Volumn 95, Issue 5, 2010, Pages 850-851

  Joly, Philippe ^a   Lacan, Philippe ^a   Labalme, Audrey ^b   Bonhomme, Elodie ^a   Sanlaville, Damien ^b   Francina, Alain ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b Centre de Biologie Est   (France)

Author keywords

globin genes; thalassemia; CGH array; Deletion; HbH; MLPA; Telomere

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN H;

ADOLESCENT; ALPHA THALASSEMIA; ARTICLE; CASE REPORT; FAMILY HISTORY; FEMALE; GENE DELETION; GENE FUNCTION; HEMOGLOBIN ANALYSIS; HEMOGLOBIN H DISEASE; HEMOGLOBINOPATHY; HUMAN; MOLECULAR SIZE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPIC VARIATION; TELOMERE; GENETICS; LETTER; PHENOTYPE; SCOLIOSIS;

ADOLESCENT; ALPHA-THALASSEMIA; FEMALE; GENE DELETION; HEMOGLOBIN H; HUMANS; PHENOTYPE; SCOLIOSIS; TELOMERE;

EID: 77952299212     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.018663     Document Type: Article

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