Fetal hemoglobin elevation in Hb lepore heterozygotes and its correlation with β globin cluster linked determinants

American Journal of Hematology

Volumn 69, Issue 2, 2002, Pages 95-102

  Gonçalves, Isabel ^a   Henriques, Ana ^a   Raimundo, Ana ^b   Picanço, Isabel ^c   Reis, Ana ^d   Correia Jr , Esmeraldina ^a   Santos, Ester ^b   Nogueira, Paulo ^a   Osório Almeida, Leonor ^a  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

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

^c HOSPITAL DE SANTA CRUZ   (Portugal)

^d Centro Hospitalar de Lisboa Central EPE   (Portugal)

Author keywords

Extended haplotype; Hb Lepore; Hb Lepore Baltimore; HbF; HPFH

Indexed keywords

BETA GLOBIN; DNA; HEMOGLOBIN F; HEMOGLOBIN LEPORE BALTIMORE; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HAPLOTYPE; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN LEPORE; HEMOGLOBINOPATHY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PORTUGAL; PRIORITY JOURNAL; THALASSEMIA;

EID: 0036156757     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.10019     Document Type: Article

References (46)

1. A new hereditary hemoglobinopathy (the Lepore trait) and its interaction with thalassemia trait
2. Analysis of the β-δ globin gene loci in normal and Hb Lepore DNA: Direct determination of gene linkage and intergene distance
3. Organization of human δ- and β-globin genes in cellular DNA and the presence of intragenic inserts
4. IVS-II-8) in Central Portugal and Spanish Alta Extremadura
5. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion
6. Characterisation of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore Baltimore, Hb P-Nilotic, and Hb Kenya
7. Origin heterogeneity of Hb Lepore-Boston gene in Italy
8. Hemoglobin-Lepore Hollandia
9. HbE/Hb Lepore Hollandia in a family from Bangladesh
10. Hemoglobin-Lepore-Baltimore, a third type of a delta, beta crossover (δ50-β86)
11. An individual with Hb Lepore Baltimore δβ thalassemia in a Yugoslavian family
12. Hemoglobin Lepore Baltimore in a Spanish family
13. Hb Lepore-Baltimore in Northern Sardinian family
14. Hb Lepore Baltimore (δ50Ser-β86Ala) identified by DNA analysis in a Brazilian family
15. Hemoglobin sickle-Lepore: Report of two siblings and review of the literature
16. Hb Lepore (Pylos)/HbS compounds heterozygosity in two Greek families
17. HbS/Hb Lepore with mild sickling symptoms: A hemoglobin variant with mostly δ-chain sequences ameliorates sickle-cell disease
18. Compound heterozygosity for HbS and the hybrid Lepore, P-Nilotic, and Kenya; comparison of hematological and hemoglobin composition data
19. Hemoglobin Sickle-Lepore: An unusual case of sickle cell disease
20. Dissecting the loci controlling fetal hemoglobin production on chromosomes 11p and 6q by the regressive approach
21. Genetic influences of F cells and other hematologic variables: A twin heritability study
22. Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin
23. X-linked dominant control of F-cells in normal adult life: Characterization of the Swiss type of hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome
24. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
25. Gγ Xmnl (C-T) polymorphism in normal individuals
26. Gγ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia?
27. Gγ-globin gene expression and high HbF levels in β-thalassemia and sickle cell anemia patients
28. Combined effect of two different polymorphic sequences within the β globin gene cluster on the level of HbF
29. A comman protein binds to two silencers 5′ to the human β-globin gene
30. Estimation of small percentages of fetal haemoglobin
31. High performance liquid chromatographic separation of globin chains on a large-pore C4 column
32. 2 - Vermehrung bei der schweizer bevölkerung
33. A simple salting out procedure for extracting DNA from human nucleated cells
34. Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β thalassemia in Portuguese population
35. DNA polymorphism and molecular pathology of the human globin gene clusters
36. C genes
37. anti 3.7 triplication by enzymatic amplification analysis
38. Detection of common deletional α-thalassemia-2 determinants by PCR
39. Molecular basis of α-thalassemia in Portugal
40. Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood
41. Variability in the fetal hemoglobin level of the normal adult
42. Gγ globin production
43. Molecular analysis of the high-hemoglobin F phenotype in Saudi Arabian sickle cell anaemia
44. Hereditary anaemias in Portugal: Epidemiology, public health significance, and control