Page 781 - Williams Hematology ( PDFDrive )

756 Part VI: The Erythrocyte Chapter 48: The Thalassemias: Disorders of Globin Synthesis 757

94. Kazazian HH, Orkin SH, Boehm CD, et al: Characterization of a spontaneous mutation 128. Menzel S, Thein SL: Genetic architecture of hemoglobin F control. Curr Opin Hematol
to a beta-thalassemia allele. Am J Hum Genet 38:860, 1986. 16:179, 2009.
95. Sachs AB: Messenger RNA degradation in eukaryotes. Cell 74:413, 1993. 129. Wood WG, Weatherall DJ, Clegg JB: Interaction of heterocellular hereditary persistence of
96. Thermann R, Neu-Yilik J, Deters A, et al: Binary specification of nonsense codons by foetal haemoglobin with beta thalassaemia and sickle cell anaemia. Nature 264:248, 1976.
splicing and cytoplasmic translation. EMBO J 17:3484, 1998. 130. Gibbons RJ, Wada T: ATRX and X-linked (alpha)-thalassemia mental retardation
97. Thein SL: Is it dominantly inherited beta thalassaemia or just a beta-chain variant that syndrome, in Inborn Errors of Development, edited by Epstein CJ, Erickson RP, Wyn-
is highly unstable? Br J Haematol 107:12, 1999. shaw-Boris A, p 748. Oxford University Press, Oxford, 2004.
98. Adams JG, Steinberg MH, Boxer LA, et al: The structure of hemoglobin Indianapolis 131. Gibbons RJ, Wada T, Fisher CA, et al: Mutations in the chromatin-associated protein
[(beta112(G14) arginine]: An unstable variant detectable only by isotopic labeling. J ATRX. Hum Mutat 29:796, 2008.
Biol Chem 254:3489, 1979. 132. Nicholls RD, Fischel-Ghodsian N, Higgs DR: Recombination at the human alpha-
99. Coleman MB, Steinberg MH, Adams JG 3rd: Hemoglobin Terre Haute arginine beta globin gene cluster: Sequence features and topological constraints. Cell 49:369, 1987.
106. A posthumous correction to the original structure of hemoglobin Indianapolis. 133. Barbour VM, Tufarelli C, Sharpe JA, et al: Alpha-thalassemia resulting from a negative
Blood 76:57, 1990. chromosomal position effect. Blood 96:800, 2000.
100. Thein SL, Wood WG, Wickramasinghe SN, Galvin MC: Beta-thalassemia unlinked to 134. Tufarelli C, Stanley JA, Garrick D, et al: Transcription of antisense RNA leading to gene
the beta-globin gene in an English family. Blood 82:961, 1993. silencing and methylation as a novel cause of human genetic disease. Nat Genet 34:157, 2003.
101. Jones RW, Old JM, Trent RJ, et al: Major rearrangement in the human beta-globin gene 135. Wilkie AOM, Lamb J, Harris PC, et al: A truncated human chromosome 16 associ-
cluster. Nature 291:39, 1981. ated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG).
102. Baglioni C: The fusion of two peptide chains in hemoglobin Lepore and its interpreta- Nature 346:868, 1990.
tion as a genetic deletion. Proc Natl Acad Sci U S A 48:1880, 1962. 136. Hatton CS, Wilkie AO, Drysdale HC, et al: Alpha-thalassemia caused by a large (62 kb)
103. Ottolenghi S, Giglioni B, Pulazzini A, et al: Sardinian delta beta zero-thalassemia: a deletion upstream of the human alpha globin gene cluster. Blood 76:221, 1990.
further example of a C to T substitution at position –196 of the A gamma globin gene 137. Liebhaber SA, Griese E-U, Cash FE, et al: Inactivation of human alpha-globin gene
promoter. Blood 69:1058, 1987. expression by a de novo deletion located upstream of the alpha-globin gene cluster. Proc
104. Atweh GF, Zhu XX, Brickner HE, et al: The beta-globin gene on the Chinese delta Natl Acad Sci U S A 81:9431, 1990.
beta-thalassemia chromosome carries a promoter mutation. Blood 70:1480, 1987. 138. Embury SH, Miller JA, Dozy AM, et al: Two different molecular organizations account
105. Wainscoat JS, Thein SL, Wood WG, et al: A novel deletion in the beta globin gene com- for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest
plex. Ann N Y Acad Sci 445:20, 1985. 66:1319, 1980.
106. Kulozik A, Yarwood N, Jones RW: The Corfu delta beta zero thalassemia: A small deletion 139. Higgs DR, Old JM, Pressley L, et al: A novel alpha-globin gene arrangement in man.
acts at a distance to selectively abolish beta globin gene expression. Blood 71:457, 1988. Nature 284:632, 1980.
107. Fritsch EF, Lawn RM, Maniatis T: Characterization of deletions which affect the expres- 140. Goossens M, Dozy AM, Embury SH, et al: Triplicated alpha-globin loci in humans.
sion of fetal globin genes in man. Nature 279:598, 1979. Proc Natl Acad Sci U S A 77:518, 1980.
108. Orkin SH, Goff SC, Nathan DG: Heterogeneity of DNA deletion in gamma delta 141. Trent RJ, Higgs DR, Clegg JB, Weatherall DJ: A new triplicated alpha-globin gene
beta-thalassemia. J Clin Invest 67:878, 1981. arrangement in man. Br J Haematol 49:149, 1981.
109. Pirastu M, Kan YW, Lin CC, et al: Hemolytic disease of the newborn caused by a new 142. Higgs DR, Hill AVS, Bowden DK, Weatherall DJ: Independent recombination events
deletion of the entire beta-globin cluster. J Clin Invest 72:602, 1983. between duplicated human alpha globin genes: Implications for their concerted evolu-
110. Fearon ER, Kazazian HH Jr, Waber PG, et al: The entire beta-globin gene cluster is tion. Nucleic Acids Res 12:6965, 1984.
deleted in a form of gamma delta beta-thalassemia. Blood 61:1269, 1983. 143. Orkin SH, Goff SC, Hechtman RL: Mutation in an intervening sequence splice junction
111. Van der Ploeg LH, Konings A, Oort M, et al: gamma-beta-Thalassaemia studies show- in man. Proc Natl Acad Sci U S A 78:5041, 1981.
ing that deletion of the gamma- and delta-genes influences beta-globin gene expression 144. Higgs DR, Goodbourn SE, Lamb J, et al: Alpha-thalassaemia caused by a polyadenyla-
in man. Nature 283:637, 1980. tion signal mutation. Nature 306:398, 1983.
112. Curtin P, Pirastu M, Kan YW, et al: A distant gene deletion affects beta-globin gene 145. Thein SL, Wallace RB, Pressley L, et al: The polyadenylation site mutation in the alpha-
function in an gamma delta beta-thalassemia. J Clin Invest 76:1554, 1985. globin gene cluster. Blood 71:313, 1988.
113. Driscoll MC, Dobkin CS, Alter BP: Gamma delta beta-thalassemia due to a de novo 146. Pirastu M, Saglio G, Chang JC, et al: Initiation codon mutation as a cause of alpha
mutation deleting the 5′ beta-globin gene activation-region hypersensitive sites. Proc thalassemia. J Biol Chem 259:12315, 1984.
Natl Acad Sci U S A 86:7480, 1989. 148. Olivieri NF, Chang LS, Poon AO, et al: An alpha-globin gene initiation codon mutation
114. Tuan D, Feingold E, Newman M, et al: Different 3′ end points of deletions causing delta in a black family with HbH disease. Blood 70:729, 1987.
beta-thalassemia and hereditary persistence of fetal hemoglobin: Implications for the 148. Paglietti E, Galanello R, Moi P, et al: Molecular pathology of haemoglobin H disease in
control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A 80:6937, 1983. Sardinians. Br J Haematol 63:485, 1986.
115. Kendall AG, Ojwang PJ, Schroeder WA, Huisman TH: Hemoglobin Kenya, the product 149. Morlé F, Lopez B, Henni T, Godet J: alpha-Thalassaemia associated with the deletion of
of a gamma-beta fusion gene: Studies of the family. Am J Hum Genet 25:548, 1973. two nucleotides at position –2 and –3 preceding the AUG codon. EMBO J 4:1245, 1985.
116. Smith DH, Clegg JB, Weatherall DJ, Gilles HM: Hereditary persistence of foetal haemo- 150. Weatherall DJ, Clegg JB: The alpha-chain-termination mutants and their relationship to
globin associated with a gamma beta fusion variant, haemoglobin Kenya. Nat New Biol the alpha-thalassaemias. Philos Trans R Soc London B Biol Sci 271:411, 1975.
246:184, 1973. 151. Liebhaber SA, Coleman MB, Adams JG 3rd, et al: Molecular basis for nondeletion
117. Collins FS, Stoeckert CJ, Serjeant GR, et al: G gamma beta+ hereditary persistence of alpha-thalassemia in American blacks. Alpha 2(116GAG—UAG). J Clin Invest 80:154, 1987.
fetal hemoglobin: Cosmid cloning and identification of a specific mutation 5’ to the G 152. Liebhaber SA, Kan YW: A Thalassemia caused by an unstable alpha-globin mutant. J
gamma gene. Proc Natl Acad Sci U S A 81:4894, 1984. Clin Invest 71:461, 1983.
118. Giglioni B, Casini C, Mantovani R, et al: A molecular study of a family with Greek 153. Sanguansermsri T, Matragoon S, Changloah L, Flatz G: Hemoglobin Suan-Dok (alpha 2
hereditary persistence of fetal hemoglobin and beta-thalassemia. EMBO J 3:2641, 1984. 109 (G16) Leu replaced by Arg beta 2): An unstable variant associated with alpha-tha-
119. Gelinas R, Endlich B, Pfeiffer C, et al: G to A substitution in the distal CCAAT box of lassemia. Hemoglobin 3:161, 1979.
the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. Nature 154. Honig GR, Shamsuddin M, Zaizov R, et al: Hemoglobin Petah Tikva (alpha 110 ala
313:323, 1985. replaced by asp): A new unstable variant with alpha-thalassemia-like expression. Blood
120. Tate VE, Wood WG, Weatherall DJ: The British form of hereditary persistence of fetal 57:705, 1981.
hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5’ 155. Honig GR, Shamsuddin M, Vida LN, et al: Hemoglobin Evanston (alpha 14 Trp—Arg).
to the A gamma globin gene. Blood 68:1389, 1986. An unstable alpha-chain variant expressed as alpha-thalassemia. J Clin Invest 73:1740,
121. Gilman JG, Huisman TH: DNA sequence variation associated with elevated fetal G 1984.
gamma globin production. Blood 66:783, 1985. 156. Weatherall DJ, Higgs DR, Bunch C, et al: Hemoglobin H disease and mental retarda-
122. Marti HR: Normale und Abnormale Menschliche Haemoglobin. Springer-Verlag, Berlin, tion: A new syndrome or a remarkable coincidence? N Engl J Med 305:607, 1981.
1963. 157. Wilkie AO, Buckle VJ, Harris PC, et al: Clinical features and molecular analysis of the
123. Dover GJ, Smith KD, Chang YC, et al: Fetal hemoglobin levels in sickle cell disease and alpha thalassemia/mental retardation syndromes: I. Cases due to deletions involving
normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood chromosome band 16p13.3. Am J Hum Genet 46:1112, 1990.
80:816, 1992. 158. Wilkie AO, Zeitlin HC, Lindenbaum RH, et al: Clinical features and molecular analysis
124. Craig JE, Rochette J, Fisher CA, et al: Dissecting the loci controlling fetal haemoglobin of the alpha-thalassemia/mental retardation syndromes: II. Cases without detectable
production on chromosomes 11p and 6q by the regressive approach. Nat Genet 12:58, abnormality of the alpha globin complex. Am J Hum Genet 46:1127, 1990.
1996. 159. Gibbons RJ, Suthers GK, Wilkie AO, et al: X-linked alpha-thalassemia/mental retar-
125. Garner C, Silver N, Best S, et al: Quantitative trait loci on chromosome 8q influences dation (ATR-X) syndrome: Localization to Xq12–21.31 by X-inactivation and linkage
the switch from fetal to adult hemoglobin. Blood 104:2184, 2004. analysis. Am J Hum Genet 51:1136, 1992.
126. Menzel S, Garner C, Gut I, et al: A QTL influencing F cell production maps to a gene 160. Gibbons RJ, Picketts DJ, Villard L, Higgs DR: Mutations in a putative global transcrip-
encoding a zinc-finger protein on chromosome 2p15. Nat Genet 39:1197, 2007. tional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syn-
127. Uda M, Galanello R, Sanna S, et al: Genome-wide association study shows BCL11A drome). Cell 80:837, 1995.
associated with persistent fetal hemoglobin and amelioration of the phenotype of 161. Gibbons RJ, Bachoo S, Picketts DJ, et al: Mutations in transcriptional regulator ATRX
beta-thalassemia. Proc Natl Acad Sci U S A 105:1620, 2008. establish the functional significance of a PHD-like domain. Nat Genet 17:146, 1997.

Kaushansky_chapter 48_p0725-0758.indd 756 9/18/15 2:58 PM