Homozygous Hb sallanches [α104(G11)cys→tyr] in a Pakistani child with Hb H disease

Hemoglobin

Volumn 24, Issue 4, 2000, Pages 355-357

  Waye, J S ^a   Walker, L ^a   Chui, D H K ^a   Lafferty, J ^a   Kirby, M ^a  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN H; HEMOGLOBIN SALLANCHES; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; GENE CLUSTER; GENE DELETION; GENE ISOLATION; HEMOGLOBIN ANALYSIS; HEMOGLOBIN DETERMINATION; HEREDITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE;

EID: 0033708636     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630260008993145     Document Type: Article

References (8)

1. A review of the molecular genetics of the human α-globin gene cluster
2. α Thalassemia
3. Detection of specific sequences among fragments separated by gel electrophoresis
4. A PCR-based strategy to detect the common severe determinants of α-thalassaemia
5. Locus assignment of human α-globin gene mutations by selective amplification and direct sequencing
6. A new α chain variant Hb Sallanches [α2 104(G11) Cys→Tyr] associated with Hb H disease in one homozygous patient
7. -3.7 kb deletion leads to Hb H disease
8. Hb Sallanches [α104(G11)Cys→ Tyr]: A rare α2-globin chain variant found in the homozygous state in three members of a Pakistani family