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Hemoglobin
international journal for hemoglobin research
Volume 13, 1989 - Issue 7-8
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Original Article

α Thalassemia

S. A. Liebhaber Howard Hughes Medical Institute Departments of Human Genetics and Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104
Pages 685-731 | Received 05 Jul 1989, Accepted 20 Oct 1989, Published online: 07 Jul 2009

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Hassan Abolghasemi, Sharareh Kamfar, Azita Azarkeivan, Mehran Karimi, Bijan Keikhaei, Fahimeh Abolghasemi, Mohammad H. Radfar, Peyman Eshghi & Samin Alavi. (2022) Clinical and genetic characteristics of hemoglobin H disease in Iran. Pediatric Hematology and Oncology 39:6, pages 489-499.
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J. J. David Ho, G. Brett Robb, Sharon C. Tai, Paul J. Turgeon, Imtiaz A. Mawji, H. S. Jeffrey Man & Philip A. Marsden. (2013) Active Stabilization of Human Endothelial Nitric Oxide Synthase mRNA by hnRNP E1 Protects against Antisense RNA and MicroRNAs. Molecular and Cellular Biology 33:10, pages 2029-2046.
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Amine Zorai, Salem Abbes, Claude Préhu, Souheil Omar, Nathalie Gerard, Raouf Hafsia, Bouaziz Asma, Fethi Guemira & Kousay Dellagi. (2003) Hb H Disease Among Tunisians: Molecular Characterization of α‐Thalassemia Determinants and Hematological Findings. Hemoglobin 27:1, pages 57-61.
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Amy Yuk-Yin Chan, Edmond Shiu-Kwan Ma, Wing-Yan Au, Eudora Yu-De Chow & Li Chong Chan. (2002) DETECTION OF A SMALL NOVEL DELETION IN THE α-GLOBIN GENE AND TYPE II −α3.7 DELETION BY HETERODUPLEX FORMATION. Hemoglobin 26:3, pages 311-316.
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John S. Waye, Barry Eng, Margaret Patterson, Manuel D. Carcao, Lebe Chang, Nancy F. Olivieri & David H. K. Chui. (2001) IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE. Hemoglobin 25:4, pages 391-396.
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K. Kyriacou, A. Kyrri, E. Kalogirou, Ph. Vasiliades, M. Angastiniotis, P. A. Ioannou & M. Kleanthous. (2000) Hb Bart's Levels in Cord Blood and α-Thalassemia Mutations in Cyprus. Hemoglobin 24:3, pages 171-180.
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J. S. Waye, L. Walker, D. H. K. Chui, J. Lafferty & M. Kirby. (2000) Homozygous HB Sallanches [α104(G11)CYS→TYR] in a Pakistani Child with HB H Disease. Hemoglobin 24:4, pages 355-357.
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Zuoren Wang, Nancy Day, Panayiota Trifillis & Megerditch Kiledjian. (1999) An mRNA Stability Complex Functions with Poly(A)-Binding Protein To Stabilize mRNA In Vitro. Molecular and Cellular Biology 19:7, pages 4552-4560.
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E. Paglietti, S. Barella, S. Satta, C. Perra, A. Cao & R. Galanello. (1998) HB Sassari [α126(H9)ASPHIS] Results from a GACCAC Mutation in the α1-Globin Gene. Hemoglobin 22:1, pages 65-67.
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M. L. Ribeiro & G. P. Tamagnini. (1997) Hemoglobin Disorders in Macao. Hemoglobin 21:3, pages 271-279.
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Stephen A. Liebhaber, Zhibin Wang, Faith E. Cash, Bob Monks & J. Eric Russell. (1996) Developmental Silencing of the Embryonic ζ-Globin Gene: Concerted Action of the Promoter and the 3′-Flanking Region Combined with Stage-Specific Silencing by the Transcribed Segment. Molecular and Cellular Biology 16:6, pages 2637-2646.
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M. J. Peres, L. Romão, H. Carreiro, I. Picanço, L. Batalha, H. A. Magalhães, M. C. Martins & J. Lavinha. (1995) Molecular Basis of A-Thalassa in Portugal. Hemoglobin 19:6, pages 343-352.
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Z-H. Lu & M. H. Steinberg. (1994) A new αααANTI-3.7 α-globin allele. Hemoglobin 18:6, pages 445-448.
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G. Fioretti, M. De Angioletti, L. Paganol, G. Lacerra, A. Viola, C. De Bonis, A. Scarallo & C. Carestia. (1993) DNA Polymorphisms Associated with HB D-Los Angeles β121(GH4)GLU→GLN] in Southern Italy. Hemoglobin 17:1, pages 9-17.
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X-J. Wen, S. Liang, Q. Jin & W-X. Lin. (1992) The Nondeletional Types of HB H Disease in Guangxi. Hemoglobin 16:1-2, pages 45-50.
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Maher Albitar, Makoto Katsumata & Stephen A. Liebhaber. (1991) Human α-Globin Genes Demonstrate Autonomous Developmental Regulation in Transgenic Mice. Molecular and Cellular Biology 11:7, pages 3786-3794.
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S. Liang, X-J. Wen & W-X. Lin. (1991) Detection of the HB Quong SZE Mutation in a Chinese Family by Selective Amplification of the α2-Globin Gene and Restriction Map Analysis with MSP I. Hemoglobin 15:6, pages 535-540.
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J. W. Smit, K. Deggeller, R. Y. J. Tamninga, J. B. Wilson, B. B. Webber & T. H. J. Huisman. (1991) Hb Fukuyama or α2β277(EF1)HIL→TYR Observed in an Indonesian Female. Hemoglobin 15:4, pages 331-333.
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. (1990) Low Quantities of Hb Boyle Heights or α26(A4)ASP→Oβ2 Observed in Three Members of a Caucasian Family. Hemoglobin 14:6, pages 637-640.
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W. Zhao, J. B. Wilson, B. B. Webber, A. Kutlar, G. P. Tamagnini, B. Kuan & T. H. J. Huisnan. (1990) Hb Hekinan Observed in Three Chinese from Macau; Identification of the Gag→Gat Mutation in the αl-Globin Gene. Hemoglobin 14:6, pages 627-635.
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Oded Gilad, Orna Steinberg-Shemer, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Hannah Tamary & Joanne Yacobovich. (2020) Alpha-Thalassemia Carrier due to –α<sup>3.7</sup> Deletion: Not So Silent. Acta Haematologica 143:5, pages 432-437.
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Ozge Ozalp Yuregir, Akif Ayaz, Sinem Yalcintepe, Sezin Canbek, Didar Yanardag Acik, Basak Taburoglu Yilmaz & Tugce B. Balci. (2015) Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey. Indian Journal of Hematology and Blood Transfusion 32:4, pages 454-459.
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Naghmeh NezhatMohammad Taghi Akbari. (2012) Detection of Deletions/Duplications in α-Globin Gene Cluster by Multiplex Ligation-Dependent Probe Amplification. Genetic Testing and Molecular Biomarkers 16:7, pages 684-688.
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Roswitha Dickerhoff. (2007) Regarding Luecke T, Pfister S, Duerken M. Neurodevelopmental outcome and haematological course of a long‐time survivor with homozygous alpha‐thalassaemia: Case report and review of the literature. Acta Paediatr 2005;94:1330–3. Acta Paediatrica 95:8, pages 1017-1018.
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Matthew J Bizzarro, Eve Colson & Richard A Ehrenkranz. (2004) Differential diagnosis and management of anemia in the newborn. Pediatric Clinics of North America 51:4, pages 1087-1107.
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John S. Waye, Barry Eng, Margaret Patterson, Lynda Walker, Manuel D. Carcao, Nancy F. Olivieri & David H.K. Chui. (2001) Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases. American Journal of Hematology 68:1, pages 11-15.
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Delia C. Tang, Suthat Fucharoen, Ivan Ding & Griffin P. Rodgers. (2001) Rapid differentiation of five common α-thalassemia genotypes by polymerase chain reaction. Journal of Laboratory and Clinical Medicine 137:4, pages 290-295.
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Christof Dame & Sandra E. Juul. (2000) THE SWITCH FROM FETAL TO ADULT ERYTHROPOIESIS. Clinics in Perinatology 27:3, pages 507-526.
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S. L. Rhodes, M. Plonczynski, A. Harrell, J. Li, S. Safaya, J. C. Files & M. H. Steinberg. (1999) Double Heterozygosity for the Codon ?? 39 C-to-T Nonsense Mutation and a Triplicate ??-Globin Gene Locus Can Cause ???Dominantly??? Inherited ??-Thalassemia Intermedia. The American Journal of the Medical Sciences 317:5, pages 341.
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S.L. Rhodes, M. Plonczynski, A. Harrell, J. Li, S. Safaya, J.C. Files & M.H. Steinberg. (1999) Double Heterozygosity for the Codon β 39 C-to-T Nonsense Mutation and a Triplicate α-Globin Gene Locus Can Cause "Dominantly" Inherited β-Thalassemia Intermedia. The American Journal of the Medical Sciences 317:5, pages 341-345.
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STEPHEN A. LIEBHABER & J. ERIC RUSSELL. (1998) Expression and Developmental Control of the Human alpha-Globin Gene Cluster. Annals of the New York Academy of Sciences 850:1 COOLEY'S ANEM, pages 54-63.
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Lemuel J. Bowie, Poluru L. Reddy & Kenneth R. Beck. (1997) Alpha Thalassemia and Its Impact on Other Clinical Conditions. Clinics in Laboratory Medicine 17:1, pages 97-108.
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Murat O. Arcasoy & Patrick G. Gallagher. (1995) Hematologic disorders and nonimmune hydrops fetalis. Seminars in Perinatology 19:6, pages 502-515.
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Chris Pászty, Narla Mohandas, Mary E. Stevens, Jeanne F. Loring, Stephen A. Liebhaber, Catherine M. Brion & Edward M. Rubin. (1995) Lethal α–thalassaemia created by gene targeting in mice and its genetic rescue. Nature Genetics 11:1, pages 33-39.
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Ana Villegas, Jesus Sanchez, Dolores L. Carreno, Paloma Ropero, Fernando A. Gonzalez, Domingo Espinos, Maria A. Penalver & Matilde Lozano. (2006) Molecular characterization of a new family with α‐Thalassemia‐1 (—— MA mutation) . American Journal of Hematology 49:4, pages 294-298.
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J. G. Chang, T. C. Liu, S. S. Chiou, J. T. Chen, T. P. Chen & C. P. Lin. (1994) Rapid detection of −α 4.2 deletion of α-thalassemia-2 by polymerase chain reaction. Annals of Hematology 69:4, pages 205-209.
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E. Baysal & T. H. J. Huisman. (2006) Detection of common deletional α‐thalassemia‐2 determinants by PCR. American Journal of Hematology 46:3, pages 208-213.
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A. Cao, R. Galanello & M.C. Rosatelli. (1994) Genotype-phenotype correlations in β-thalassemias. Blood Reviews 8:1, pages 1-12.
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D. Williamson, R.W. Carrell & H. Lehmann. 1994. Scientific Foundations of Biochemistry in Clinical Practice. Scientific Foundations of Biochemistry in Clinical Practice 420 445 .
Linda M. Sandhaus & Florence G. Harvey. (1993) Laboratory Methods for the Detection of Hemoglobinopathies in the Community Hospital. Clinics in Laboratory Medicine 13:4, pages 801-816.
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M. A. Clürük, E. Baysal, R. B. Gupta, S. Sharma & T. H. J. Huisman. (2008) An IVS‐I‐117 (G→A) acceptor splice site mutation in the α 1‐globin gene is a nondeletional α‐thalassaemia‐2 determinant in an Indian population. British Journal of Haematology 85:1, pages 148-152.
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James H. Ireland, Hong‐Yuan Luo, David H. K. Chui, Berbie Chu, Juliet Yuen & Y. Edward Hsia. (2006) Detection of the (– SEA ) double α‐globin gene deletion by a simple immunologic assay for embryonic ζ‐globin chains . American Journal of Hematology 44:1, pages 22-28.
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Antonio Cao & Maria Cristina Rosatelli. (1993) 9 Screening and prenatal diagnosis of the haemoglobinopathies. Baillière's Clinical Haematology 6:1, pages 263-286.
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A. D. Adekile & T. H. J. Huisman. (1993) Hb F in sickle cell anemia. Experientia 49:1, pages 16-27.
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K. M. McKie, L.‐H. Gu, Y.‐C. Gu & T. H. J. Huisman. (2006) Postnatal changes in the quantities of globin chains and hemoglobin types in two babies with Hb H disease. American Journal of Hematology 42:1, pages 86-90.
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D. Williamson, J. V. Langdown, T. Myles, C. Mason, J. S. Henthorn & S. C. Davies. (2008) POLYCYTHAEMIA AND MICROCYTOSIS ARISING FROM THE COMBINATION OF A NEW HIGH OXYGEN AFFINITY HAEMOGLOBIN (Hb LUTON, α89 His→Leu) AND α THALASSAEMIA TRAIT. British Journal of Haematology 82:3, pages 621-622.
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M. De Angioletti, G. Lacerra, C. Castaldo, R. Cutolo, C. de Bonis, G. Buonanno & C. Carestia. (1992) ααααanti-3.7 type II: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination. Human Genetics 89:1, pages 37-41.
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Y. J. Fei, J. C. Liu, E. L. D. WalkerIIIIII & T. H. J. Huisman. (2006) A new gene deletion involving the α2‐, α1 ‐, and 81‐globin genes in a black family with Hb H disease. American Journal of Hematology 39:4, pages 299-303.
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Patricia E. Berg & Alan N. Schechter. 1992. Molecular Genetic Medicine. Molecular Genetic Medicine 1 38 .
Jing‐Bo Zhao, Lin Zhao, You‐Jun Fei, Jin‐Cai Liu & Titus H. J. Huisman. (2006) A novel α‐thalassemia‐2 (−2.7‐kb) observed in a chinese patient with Hb H disease. American Journal of Hematology 38:3, pages 248-249.
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Paolo Fortina, Irma Dianzani, Anna Serra, Enrico Gottardi, Giuseppe Saglio, Loredana Farinasso, Antonio Piga, Vilma Gabutti & Clara Camaschella. (2008) A newly‐characterized α‐thalassaemia‐1 deletion removes the entire α‐like globin gene cluster in an Italian family. British Journal of Haematology 78:4, pages 529-534.
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Martin H. Steinberg. (1991) The Interactions of α -Thalassemia with Hemoglobinopathies. Hematology/Oncology Clinics of North America 5:3, pages 453-473.
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Dimitris Loukopoulos. (1991) Thalassemia: genotypes and phenotypes. Annals of Hematology 62:5, pages 145-150.
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Dimitris Loukopoulos. (1991) Thalassemia: genotypes and phenotypes. Annals of Hematology 62:4, pages 85-94.
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