Sickle cell disease: No longer a single gene disorder

Current Opinion in Pediatrics

Volumn 13, Issue 1, 2001, Pages 22-27

  Chui, David H K ^a,c   Dover, George J ^b,d  

^a MCMASTER UNIVERSITY   (Canada)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^d JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN F; HEMOGLOBIN S; NUCLEOTIDE;

ALPHA THALASSEMIA; CHROMOSOMAL LOCALIZATION; DISEASE COURSE; FETUS; GENE CLUSTER; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HEMOGLOBIN SYNTHESIS; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MEDICAL GENETICS; MODULATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SICKLE CELL ANEMIA;

ADULT; ANEMIA, SICKLE CELL; CHILD; DATABASES, FACTUAL; GENE EXPRESSION REGULATION; GLOBINS; HUMANS; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0035139122     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200102000-00004     Document Type: Review

References (53)

1. Pathogenesis and treatment of sickle cell disease
2. Management of sickle cell disease
3. Pain in sickle cell disease: Rates and risk factors
4. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori
5. Natural history and determinants of clinical severity of sickle cell disease
6. Modulation of the phenotypic diversity of sickle cell anemia
7. Benign clinical course in homozygous sickle cell disease: A search for predictors
8. The Cooperative Study of Sickle Cell Disease: Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anemia
9. Rhabdomyolysis and hemolysis associated with sickle cell trait and glucose-6-phosphate dehydrogenase deficiency
10. A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry)
11. Recurrent acute splenic sequestration crisis due to interacting genetic defects: Hemoglobin SC disease and hereditary spherocytosis
12. Splenic sequestration associated with sickle cell trait and hereditary spherocytosis
13. Genetic influences on F cells and other hematologic variables: A twin heritability study
14. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
15. Origin of the beta S-globin gene in blacks: The contribution of recurrent mutation or gene conversion or both
16. Hematologically and genetically distinct forms of sickle cell anemia in Africa: The Senegal type and the Benin type
17. Localisation of cis regulatory elements at the β-globin locus: Analysis of hybrid haplotype chromosomes
18. The relative importance of the X-linked FCP locus and beta-globin haplotypes in determining haemoglobin F levels: A study of SS patients homozygous for beta S haplotypes
19. X-linked dominant control of F-cells in normal adult life: Characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome
20. An analysis of fetal hemoglobin variation in sickle cell disease: The relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age
21. Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23
22. An integrated map of human 6q22.3q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin
23. Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin
24. Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene
25. Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF
26. Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF
27. Erythroid Kruppel like factor: From fishing expedition to gourmet meal
28. FKLF, a novel Kruppel-like factor that activates human embryonic and fetal beta-like globin genes
29. Identification of a stage selector element in the human gamma-globin gene promoter that fosters preferential interaction with the 5 HS2 enhancer when in competition with the beta-promoter
30. Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein
31. Isolation and characterization of human NF-E4, the tissue restricted component of the stage selector protein complex
32. Hemoglobin switching in unicellular erythroid culture of sibling erythroid burst-forming units: Kit ligand induces a dose-dependent fetal hemoglobin reactivation potentiated by sodium butyrate
33. Selectively increased growth of fetal hemoglobin-expressing adult erythroid progenitors after brief treatment of early progenitors with transforming growth factor beta
34. Heterogeneity in the properties of burst-forming units of erythroid lineage in sickle cell anemia: DNA synthesis and burst-promoting activity production is related to peripheral hemoglobin F levels
35. Circulating activated endothelial cells in sickle cell anemia
36. Adhesive interactions of sickle erythrocytes with endothelium
37. Introduction: Anti-adhesion therapy in sickle cell disease
38. Blockade of adhesion of sickle cells to endothelium by monoclonal antibodies
39. Red blood cell surface adhesion molecules: Their possible roles in normal human physiology and disease
40. Monoclonal antibodies to alphaVbeta3 (7E3 and LM609) inhibit sickle red blood cell-endothelium interactions induced by platelet-activating factor
41. The use of transcranial ultrasonography to predict stroke in sickle cell disease
42. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography
43. Evidence for HLA related susceptibility for stroke in children with sickle cell disease
44. Homocysteine in sickle cell disease: Relation to stroke
45. Correlation of the C677T MTHFR genotype with homocysteine levels in children with sickle cell disease
46. Mortality in sickle cell disease: Life expectancy and risk factors for early death
47. Prediction of adverse outcomes in children with sickle cell disease
48. Hydroxyurea and sickle cell anemia: Clinical utility of a myelosuppressive "switching" agent. The multicenter study of hydroxyurea in sickle cell anemia
49. Hypoxia/reoxygenation causes inflammatory response in transgenic sickle mice but not in normal mice
50. Sickle cell anemia as an inflammatory disease
51. Electronic access to sequence alignments, experimental results, and human mutations, as an aid to studying globin gene regulation
52. Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web
53. An electronic database of human hemoglobin variants on the World Wide Web