Different geographic origins of Hb Constant Spring [α2 codon 142 TAA→CAA]

Haematologica

Volumn 86, Issue 1, 2001, Pages 36-38

  Harteveld, C L ^a   Traeger Synodinos, J ^a   Ragusa, A ^a   Fichera, M ^a   Kanavakis, E ^a   Kattamis, C ^a   Giordano, P ^a   Schiliro G ^a   Bernini, L F ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

globin gene mutation; Hb CS; Hb H disease; Hemoglobin; Thalassemia

Indexed keywords

ALPHA GLOBIN; ALPHA2 GLOBIN; HEMOGLOBIN CS; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENETIC ANALYSIS; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HEMOGLOBIN DETERMINATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PROTEIN STRUCTURE;

CHINA; CODON, TERMINATOR; FAMILY HEALTH; FEMALE; GREECE; HAPLOTYPES; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; POINT MUTATION; SICILY;

EID: 0035130872     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Identification of slow-moving haemoglobins in haemoglobin H disease from different racial groups
2. A simple salting out procedure for extracting DNA from human nucleated cells
3. The pattern of disorderd haemoglobin synthesis in homozygous and heterozygous α-thalassaemia
4. Analysis of the human α-globin gene cluster reveals a highly informative genetic locus
5. Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA
6. Hemoglobin H-Constant Spring disease: An under recognized severe form of α-thalassemia
7. 0-thalassaemia with Hb Icaria: Three unusual cases of haemoglobinopathy H
8. Hblcaria-HbH disease: Identification of the Hb Icaria mutation through analysis of amplified DNA
9. Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: Six independent ancestors account for 60% of probands
10. α-thalassemia in the United Arab Emirates
11. Is the alpha(-)(cal) mutation prevalent in central Spain?