5 α-Thalassaemia

Bailliere's Clinical Haematology

Volumn 6, Issue 1, 1993, Pages 117-150

  Higgs, Douglas R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEMOGLOBIN H;

ACQUIRED HEMOLYTIC ANEMIA; ALPHA THALASSEMIA; DISEASE COURSE; DISEASE SEVERITY; FETUS HYDROPS; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC HETEROGENEITY; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; PRENATAL DIAGNOSIS; PROTEIN STABILITY; REGULATOR GENE; REVIEW; RNA PROCESSING; STRUCTURAL GENE;

ALPHA-THALASSEMIA; BASE SEQUENCE; CONSENSUS SEQUENCE; GENE EXPRESSION REGULATION; GLOBINS; HEMOGLOBIN H; HEMOGLOBINS, ABNORMAL; HUMAN; HYDROPS FETALIS; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION;

EID: 0027308859     PISSN: 09503536     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0950-3536(05)80068-X     Document Type: Article

References (143)

1. Theta, zeta and epsilon globin messenger RNAs are expressed in adults
2. Acquired α-thalassaemia in preleukemia is due to decreased expression of all four α-globin genes
3. Survival of a hydropic infant with homozygous α-thalassaemia-1
4. The mosaic genome of warm-blooded vertebrates
5. Normal long-term survival with α-thalassaemia
6. Non-methylated CpG-rich islands at the human α-globin locus: implications for evolution of the α-globin pseudogene
7. +-thalassemia deletions
8. Elongation of the α-globin chain in a black family: interaction with HbG Philadelphia
9. Localisation of human α globin to 16p13.3-pter
10. Hydrops fetalis due to an unusual form of HbH disease
11. Embryonic ζ-globin chains in adults: a marker for α-thalassemia-1 haplotype due to a >17.5 kb deletion
12. Human embryonic ζ-globin chains in fetal and newborn blood
13. Can the product of the ϑ-gene be a real globin?
14. Haemoglobin Constant Spring—a chain termination mutant?
15. Haemoglobin Icaria, a new chain termination mutant which causes α-thalassaemia
16. anti3.7 type II: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination
17. Hemoglobin Koya Dora: high frequency of a chain termination mutant
18. Molecular basis for HbH disease in Italy: geographical distribution of deletional and non-deletional α-thalassemia haplotypes
19. Case of intrauterine death due to α-thalassaemia
20. The non-deletion α thalassaemia/mental retardation syndrome: further support for X linkage
21. Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype
22. HbH disease in American Blacks
23. Two different theta (ϑ)-globin gene deletions observed among black newborn babies
24. A new gene deletion involving the α2-, α1- and ϑ1-globin genes in a Black family with HbH disease
25. Abnormal RNA splicing causes one form of α-thalassemia
26. The rare α-thalassemia-1 of Blacks is a ζα-thalassemia-1 associated with deletion of all α- and ζ-globin genes
27. Long range genome structure around the human α-globin complex analysed by PFGE
28. Unusual features of CpG-rich (HTF) islands in the human α-globin complex: association with nonfunctional pseudogenes and presence within the 3′ portion of the ζ gene
29. Function of a new globin gene
30. Fil)
31. A large deletion encompassing the entire α-like globin gene cluster in a family of Northern European extraction
32. A newly-characterized α-thalassaemia-1 deletion removes the entire α-like globin gene cluster in an Italian family
33. Differences between two types of HbH disease, α-thalassemia 1/α-thalassemia 2 and α-thalassemia 1/Hb Constant Spring
34. Phenotype-genotype correlation in haemoglobin H disease in childhood
35. Hemoglobin inclusions in heterozygous α-thalassemia according to their α-globin genotype
36. Fetal hydrops in Sardinia: implications for genetic counselling
37. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
38. A newly defined X linked mental retardation syndrome associated with α-thalassaemia
39. Characterization of a newly discovered α-thalassaemia-1 in two Spanish patients with HbH disease
40. Characterization of a new α-thalassemia-1 deletion in a Spanish family
41. 125Leu-Pro is a novel cause of α-thalassaemia
42. Two different quadruplicated α-globin gene arrangements
43. Hydrops fetalis due to homozygosity for α-thalassemia-1, -(α)-20.5 kb: the first observation in a Turkish family
44. A previously undetected pseudogene in the human α-globin gene cluster
45. Alpha thalassemia caused by a large (62 kb) deletion upstream of the human α globin gene cluster
46. S1 nuclease analysis of α-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells
47. Molecular analysis of deletions in the human β-globin gene cluster: deletion junctions and locations of breakpoints
48. A gradient of sequence divergence in the human adult α-globin duplication units
49. α-Thalassemia
50. A novel α-globin gene arrangement in man
51. Detection of α-thalassemia in Negro infants
52. Highly variable regions of DNA flank the human α-globin genes
53. Genetic and molecular diversity in nondeletion HbH disease
54. α-Thalassaemia caused by a polyadenylation signal mutation
55. Clinical features and molecular analysis of acquired HbH disease
56. Independent recombination events between duplicated human α-globin genes: implications for their concerted evolution
57. α-Thalassaemia in British people
58. A review of the molecular genetics of the human α-globin gene cluster
59. A major positive regulatory region located far upstream of the human α-globin gene locus
60. Recombination within the human embryonic ζ-globin locus: a common ζ-ζ chromosome produced by gene conversion of the ψζ gene
61. Role of replication time in the control of tissue-specific gene expression
62. Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression.
63. Hemoglobin Evanston (α14 Trp→Arg): an unstable α-chain variant expressed as α-thalassemia
64. 1 globin gene
65. Hemoglobin Barts disease without hydrops manifestation
66. A new hypervariable marker for the human α-globin gene cluster
67. Nuclear scaffold attachment sites in the human globin gene complexes
68. Molecular characterization of a hypervariable region downstream of the human α-globin gene cluster
69. Characterization of the major regulatory element upstream of the human α-globin gene cluster
70. Identification of a nondeletion defect in α-thalassemia
71. Haemoglobin Bart's hydrops syndrome in Greece
72. Correlation of clinical phenotype to genotype in haemoglobin H disease
73. Molecular characterisation of severe α-thalassemias causing hydrops fetalis in Taiwan
74. Acute lymphoblastic leukemia with brilliant cresyl blue erythrocytic inclusions—acquired hemoglobin H?
75. α-thalassemia in India: its interaction with sickle cell disease
76. The levels of ζ, γ, and δ chains in patients with HbH disease
77. +-thalassemia deletion with the breakpoints in the α2-globin gene and in close proximity to an Alu family repeat between the ψα2- and ψα1-globin genes
78. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease
79. The chromosomal arrangement of human α-like globin genes: sequence homology and α-globin gene deletions
80. The gene for ϑ-globin is transcribed in human fetal erythroid tissues
81. Globin gene expression in erythroid human fetal liver cells
82. Survival of an infant with homozygous α-thalassemia
83. Homozygous α-thalassemia: clinical presentation, diagnosis and management. A review of 46 cases
84. Differentiation of the mRNA transcripts originating from the α1- and α2-globin loci in normals and α-thalassemics
85. Compensatory increase in α1-globin gene expression in individuals heterozygous for the α-thalassemia-2 deletion
86. Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis
87. 116GAG→UAG
88. Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.
89. The molecular basis of α-thalassaemia in a South African population
90. Boundaries of gene conversion within the duplicated human α-globin genes. Concerted evolution by segmental recombination
91. An initiation codon mutation (AUG→GUG) of the human α1-globin gene: structural characterization and evidence for a mild thalassemia phenotype
92. α-Thalassaemia associated with the deletion of two nucleotides at position −2 and −3 preceding the AUG codon
93. α-thalassemia due to the deletion of nucleotides −2 and −3 preceding the AUG initiation codon affects translation efficiency both in vitro and in vivo
94. 0-thalassemia due to recombination between the α1-globin gene and an AluI repeat
95. Recombination at the human α-globin gene cluster: sequence features and topological constraints
96. An α-globin gene initiation codon mutation in a Black family with HbH disease
97. The duplicated human α-globin genes: their relative expression as measured by RNA analysis
98. Mutation in an intervening sequence splice junction in man
99. Haemoglobin switching in human embryos: asynchrony of ζ-α and ε-γ-globin switches in primitive and definite erythropoietic lineage
100. Initiation codon mutation as a cause of α-thalassemia
101. Haemoglobin Bart's hydrops foetalis in Thailand
102. Homozygous haemoglobin Constant Spring: a need for revision of concept
103. Gene deletions in a α thalassaemia prove that the 5′ ζ locus is functional
104. Transcriptional interference and termination between duplicated α-globin gene constructs suggests a novel mechanism for gene regulation
105. The structure of a human α-globin pseudogene and its relationship to α-globin gene duplication
106. The structure of the human ζ-globin gene and a closely linked, nearly identical pseudogene
107. α-thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural genes
108. Human α-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the ζ-globin gene
109. Clustering of hypervariable minisatellites in the proterminal regions of human autosomes
110. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
111. Dysfunctional α-globin gene in hemoglobin H disease in blacks
112. 109(G16)LEU-ARGβ2): an unstable variant associated with α-thalassemia
113. Translational profiles of α1-, α2-, and β-globin messenger ribonucleic acids in human reticulocytes
114. Haemoglobin Bart's hydrops fetalis syndrome in an infant of Greek origin and prenatal diagnosis of alpha-thalassemia
115. The molecular basis for the haemoglobin Bart's hydrops fetalis syndrome in Cyprus
116. In vivo footprinting of the human α-globin locus upstream regulatory element by guanine/adenine ligation-mediated PCR
117. Human embryonic ζ-globin chain expression in deletional α-thalassemias
118. The polyadenylation site mutation in the α-globin gene cluster
119. A new triplicated α-globin gene arrangement in man
120. Molecular defects in 2 examples of severe HbH disease
121. 0 thalassaemia defect in the South African population
122. Unexpected relationships between four large deletions in the human β-globin gene cluster
123. A novel deletion of the entire α-globin gene cluster in a British individual
124. α Thalassaemia in two Spanish families
125. Cis-acting sequences regulating expression of the human α globin cluster lie within constitutively open chromatin
126. Immunologic diagnosis of α-thalassemia traits
127. Identification of an extensive ζ-α globin gene deletion in a Chinese individual
128. Abnormal haemoglobins in the neonatal period and their relationship to thalassaemia
129. The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome
130. Hemoglobin H disease and mental retardation. A new syndrome or a remarkable coincidence?
131. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3
132. n
133. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin complex
134. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16
135. HbH disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly A mutation
136. α-globin gene organisation and prenatal diagnosis of α-thalassaemia in Chinese
137. A novel α-thalassemia-2 (−2.7 kb) observed in a Chinese patient with HbH disease
138. Rapid duplication and loss of genes coding for the α chains of hemoglobin