Phenotype-genotype correlation in Sicilian patients with Hb H

European Journal of Haematology

Volumn 65, Issue 5, 2000, Pages 306-309

  Mirabile, E ^a   Samperi, P ^a   Di Cataldo, A ^a   Poli, A ^a   La Spina, M ^a   Schiliro G ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

Thalassemia; Hb H disease; Phenotype genotype correlation

Indexed keywords

HEMOGLOBIN H;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ARTICLE; BLOOD TRANSFUSION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DELETION MUTANT; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HEMOGLOBIN ANALYSIS; HEMOGLOBINOPATHY; HEPATOMEGALY; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; INFANT; ITALY; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SPLENOMEGALY;

ADOLESCENT; ADULT; ALPHA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE DELETION; GENOTYPE; GLOBINS; HEMOGLOBIN H; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SICILY;

EID: 0033752241     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0609.2000.065005306.x     Document Type: Article

References (25)

1. Presence of hemoglobinopathies in Sicily: An historic perspective
2. Genetic heterogeneity of β-thalassemia in Southeast Sicily
3. A search for anomalies in the ζ, α, β, and γ globin gene arrangements in normal Black, Italian, Turkish, and Spanish newborns
4. Molecular basis of α-thalassemia in Sicily
5. High performance liquid chromatography (HPLC): A simple method to quantify Hbs C, O-Arab., Agenogi and Hb F
6. Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes
7. Alpha-thalassemia in two Mediterranean populations
8. Human α-thalassemia syndromes: Detection of molecular defects
9. Characterization of nondeletion α thalassemia mutations in the Greek population
10. 2 globin gene
11. α-Thalassemia in the United Arab Emirates
12. Red blood cell phenotypes in alpha-thalassemias in the Spanish population
13. α-Thalassemia carrier identification by DNA analysis in the screening for thalassemia
14. The molecular genetics of human hemoglobins
15. A review of the molecular genetics of the human α-globin gene cluster
16. Haemoglobin Constant Spring-A chain termination mutant?
17. DNA polymorphism and molecular pathology of the human globin gene clusters
18. The differences in quantities of α2- and α1- globin variants in heterozygotes
19. Compensatory increase in α1-globin gene expression in individuals heterozyous for the α-thalassemia-2 deletion
20. 3.7) α+-thalassemia deletions
21. Phenotype-genotype correlation in haemoglobin H disease in childhood
22. Subunit assembly of hemoglobin: An important determinant of hematologic phenotype
23. Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease
24. Association of Hb S/Hb Lepore and δβ-thalassemia/Hb Lepore in Sicilian patients: Review of the presence of Hb Lepore in Sicily