Molecular characterization of a novel 27.6-kb deletion causing α+ thalassemia in a Chinese family

Annals of Hematology

Volumn 90, Issue 1, 2011, Pages 17-22

  Wei, Xiao Feng ^a   Shang, Xuan ^a   He, De Qin ^b   Huang, Ji Wei ^a   Zhang, Xin Hua ^c   Xu, Xiang Min ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Maternal and Child Health Care Hospital of Fujian Province   (China)

^c The 303rd Hospital of PLA   (China)

Author keywords

thalassemia; Globin gene cluster; A gross deletion; Molecular diagnosis; Phenotype genotype correlation

Indexed keywords

ALPHA GLOBIN; GENOMIC DNA; HEMOGLOBIN A2; HEMOGLOBIN F; HEMOGLOBIN H; MESSENGER RNA; NUCLEOTIDE;

ADULT; AGED; ALPHA THALASSEMIA; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; FAMILY STUDY; FATHER; FEMALE; GENE CLUSTER; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENOTYPE; GLOBIN GENE; HEMOGLOBIN BLOOD LEVEL; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; INHERITANCE; IRON DEFICIENCY ANEMIA; JAUNDICE; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MOTHER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

ADULT; ALPHA-THALASSEMIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; PEDIGREE;

EID: 78651268097     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-010-1030-1     Document Type: Article

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