Compound heterozygosity for Hb Spanish Town [α27(B8)Glu→Val], Hb S [β6(A3)Glu→Val] and the -α(3.7 kb) thalassemia deletion

Hemoglobin

Volumn 26, Issue 2, 2002, Pages 185-189

  Faustino, Paula ^a   Picanço, Isabel ^a   Miranda, Armandina ^a   Seixas, Teresa ^a   Ferrão, Anabela ^b   Morais, Anabela ^b   Lavinha, João ^a   Romão, Luísa ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; VALINE; HEMOGLOBIN SPANISH TOWN; HEMOGLOBIN VARIANT;

ADULT; ALPHA THALASSEMIA; ALPHA2 GLOBIN GENE; ARTICLE; CASE REPORT; ERYTHROCYTE; FEMALE; GENE; GENE DELETION; GENOTYPE; HEMATOLOGY; HETEROZYGOSITY; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ION EXCHANGE CHROMATOGRAPHY; IRON DEFICIENCY ANEMIA; ISOELECTRIC FOCUSING; MICROCYTOSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN VARIANT; SICKLE CELL ANEMIA; SPAIN; FAMILY HEALTH; GENETICS; HEMOGLOBINOPATHY; INFANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; PORTUGAL;

ADULT; ALPHA-THALASSEMIA; ANEMIA, HYPOCHROMIC; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; INFANT; PEDIGREE; PHENOTYPE; POINT MUTATION; PORTUGAL; SEQUENCE DELETION;

EID: 0036062575     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120005458     Document Type: Article

References (8)

1. Haemoglobin Spanish Town α27 Glu→Val (B8)
2. The hemoglobinopathies techniques of identification
3. Reversed-phase high-performance liquid chromatography of human hemoglobin chains
4. A simple salting-out procedure for extracting DNA from human nucleated cells
5. Locus assignment of human α globin mutations by selective amplification and direct sequencing
6. Haemoglobin Lleida: A new α2-globin variant (12bp deletion) with mild thalassaemic phenotype
7. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE
8. anti3.7 triplication by enzymatic amplification analysis