Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand: Initiation codon mutation of α2-Globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)

Acta Haematologica

Volumn 131, Issue 2, 2014, Pages 88-94

  Viprakasit, Vip ^a   Ekwattanakit, Supachai ^a,b   Chalaow, Nipon ^a,b   Riolueang, Suchada ^a,b   Wijit, Sirirat ^a   Tanyut, Porntep ^a   Chat Uthai, Nunthawut ^a,b   Tachavanich, Kalaya ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Alpha thalassemia; Hemoglobin H disease; Hemoglobin Queens Park; Hemoglobin Westmead; Initiation codon mutation; Splice donor site mutation; Globin gene

Indexed keywords

ADENINE NUCLEOTIDE; ALPHA TOCOPHEROL; FOLIC ACID; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN H; HEMOGLOBIN VARIANT; MULTIVITAMIN; HEMOGLOBIN A2;

ALPHA THALASSEMIA; ANEMIA; ARTICLE; BLOOD CELL COUNT; BLOOD TRANSFUSION; CASE REPORT; CELL INCLUSION; CHILD; CLINICAL FEATURE; CONSENSUS SEQUENCE; DENGUE; DONOR SITE; ERYTHEMA INFECTIOSUM; FEMALE; GENE DELETION; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GLOBIN GENE; HEMATOCRIT; HEMIZYGOSITY; HEPATOMEGALY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IRON DEFICIENCY ANEMIA; MALE; MICROCYTIC ANEMIA; MICROCYTOSIS; PHENOTYPE; PHYSICAL EXAMINATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SPLENOMEGALY; STOP CODON; TARGET CELL; THAILAND; THALASSEMIA MAJOR; TRANSLATION INITIATION; VIRUS INFECTION; VITAMIN SUPPLEMENTATION; CODON; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEMOGLOBIN H DISEASE; HEPATOSPLENOMEGALY; HETEROZYGOSITY; RNA SPLICING;

ADOLESCENT; ADULT; ALPHA-GLOBINS; ALPHA-THALASSEMIA; AMINO ACID SUBSTITUTION; ANEMIA; CHILD; CHILD, PRESCHOOL; CODON, INITIATOR; DENGUE; FEMALE; GENOTYPE; GROWTH DISORDERS; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HUMANS; INCIDENTAL FINDINGS; INFANT; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARVOVIRIDAE INFECTIONS; PARVOVIRUS B19, HUMAN; PEDIGREE; PHENOTYPE; RNA SPLICE SITES; SPLENOMEGALY;

EID: 84896113701     PISSN: 00015792     EISSN: 14219662     Source Type: Journal    
DOI: 10.1159/000353119     Document Type: Article

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