In an individual homozygous for G gamma-delta beta-thalassemia, a physical alteration in gamma-globin gene organization was detected by restriction enzyme mapping. The data indicated that the absence of A gamma-globin chains resulted from extension of the DNA deletion from the delta beta-globin gene region into the gamma-globin gene region rather than a functional disturbance of gamma-gene expression.
S H Orkin, B P Alter, C Altay
Title and authors | Publication | Year |
---|---|---|
A Long, Fulfilling Career in Human Genetics
HH Kazazian |
Annual Review of Genomics and Human Genetics | 2021 |
Genome-wide analysis of copy number variants in age-related macular degeneration
KJ Meyer, LK Davis, EI Schindler, JS Beck, DS Rudd, AJ Grundstad, TE Scheetz, TA Braun, JH Fingert, WL Alward, YH Kwon, JC Folk, SR Russell, TH Wassink, EM Stone, VC Sheffield |
Human Genetics | 2010 |
Molecular Characterization of a Novel 55.1 kb G γ( A γδβ) 0 -thalassemia Deletion in Two Canadian Families
I Voruganti, B Eng, JS Waye |
Hemoglobin | 2009 |
Thalassemia intermedia due to homozygosity for an Asian Indian (Aγδβ)° deletional inversion
A Nadkarni, R Surve, M Holay, A Dani, A Shrikhande, V Bharti, S Suryawanshi, R Colah⁎, K Ghosh |
Clinica Chimica Acta | 2007 |
The Thalassemia Repository (Ninth Edition; Part II)
TH Huisman, MF Carver |
Hemoglobin | 1998 |
Fetal hemoglobin levels in adults
J Rochette, JE Craig, SL Thein, J Rochette |
Blood Reviews | 1994 |
δβ Thalassemia and Hereditary Persistence of Fetal Hemoglobin
JA Bollekens, BG Forget |
Hematology/Oncology Clinics of North America | 1991 |
Molecular analysis of deletions in the human β-globin gene cluster: Deletion junctions and locations of breakpoints
PS Henthorn, O Smithies, DL Mager |
Genomics | 1990 |
Thai Gγ(Aγ δβ)°-Thalassemia and its Interaction with a Single γ-GLOBIN Gene on a Chromosome Carrying β°-Thalassemia
P Winichagoon, S Fucharoen, V Thonglairoam, P Wasi |
Hemoglobin | 1990 |
The Emerging Complexity of Genetic Control of Persistent Fetal Hemoglobin Biosynthesis in Adults
SH Boyer |
Annals of the New York Academy of Sciences | 1989 |
Molecular characterization of a novel form of (A gamma delta beta)zero-thalassemia deletion with a 3' breakpoint close to those of HPFH-3 and HPFH-4: insights for a common regulatory mechanism
NP Anagnou, T Papayannopoulou, AW Nienhuis, G Stamatoyannopoulos |
Nucleic Acids Research | 1988 |
Review: Thalassemia: Molecular Pathology and Management
MH Steinberg |
The American Journal of the Medical Sciences | 1988 |
Different molecular defects of Gγ (Aγδβ)°-thalassaemia in Thailand
S Fucharoen, P Winichagoon, S Chaicharoen, P Wasi |
European Journal of Haematology | 1987 |
(δβ)° Thalassemia of the southern italian type. its geographical origin and interaction with the sickle cell gene
RJ Trent, L Svirklys, MG Harris, DR Hocking, H Kronenberg |
Pathology | 1986 |
Homozygosity for a New Type of G γ( A γδβ)°-Thalassemia in a Malaysian Male
K Faridah, E George, RJ Trent, BJ Padanilam, HJ Huang, TH Huisman |
Hemoglobin | 1986 |
(Aγδβ)°-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA
PS Henthorn, O Smithies, T Nakatsuji, AE Felice, MB Gardiner, AL Reese, TH Huisman |
British Journal of Haematology | 1985 |
DNA polymorphism and molecular pathology of the human globin gene clusters
SE Antonarakis, HH Kazazian, SH Orkin |
Human Genetics | 1985 |
Clinical and Molecular Heterogeneity of ?, ?-Thalassemia in Sicily
G Schiliró, S Musumeci, MA Romeo, F Gregorio, A D'agata, R Testa, G Russo |
Annals of the New York Academy of Sciences | 1985 |
A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints
DL Mager, PS Henthorn, O Smithies |
Nucleic Acids Research | 1985 |
A novel deletion in δβ-thalassemia found in Japan
E Matsunaga, A Kimura, H Yamada, Y Fukumaki, Y Takagi |
Biochemical and Biophysical Research Communications | 1985 |
DNA polymorphism and molecular pathology of the human globin gene clusters
SE Antonarakis, HH Kazazian, SH Orkin |
Human Genetics | 1985 |
Restriction endonuclease gene mapping studies of an Indian (Aγδβ)°-thalassaemia, previously identified asGγ-HPFH
T Nakatsuji, JG Gilman, PK Sukumaran, TH Huisman |
British Journal of Haematology | 1984 |
(Aγδβ)° thalassaemia: similarity of phenotype in four different molecular defects, including one newly described
RJ Trent, RW Jones, JB Clegg, DJ Weatherall, R Davidson, WG Wood |
British Journal of Haematology | 1984 |
Progress in Nucleic Acid Research and Molecular Biology
FS Collins, SM Weissman |
Progress in nucleic acid research and molecular biology | 1984 |
The thalassemias: molecular mechanisms of human genetic disease
RA Spritz, BG Forget |
The American Journal of Human Genetics | 1983 |
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man
D Tuan, E Feingold, M Newman, SM Weissman, BG Forget |
Proceedings of the National Academy of Sciences | 1983 |
Thalassemia: Recent insights into molecular mechanisms
MH Steinberg, JG Adams |
American Journal of Hematology | 1982 |
The control of globin and other eukaryotic genes
O Smithies |
Journal of Cellular Physiology | 1982 |
Proceedings of the 1981 Laurentian Hormone Conference
PK Siiteri, JT Murai, WJ Raymoure, RW Kuhn, GL Hammond, JA Nisker |
Proceedings of the 1981 Laurentian Hormone Conference | 1982 |
Heterogeneity of DNA deletion in gamma delta beta-thalassemia
SH Orkin, SC Goff, DG Nathan |
Journal of Clinical Investigation | 1981 |
beta zero thalassemia in Sardinia is caused by a nonsense mutation
RF Trecartin, SA Liebhaber, JC Chang, KY Lee, YW Kan, M Furbetta, A Angius, A Cao |
Journal of Clinical Investigation | 1981 |
Major rearrangement in the human β-globin gene cluster
RW Jones, JM Old, RJ Trent, JB Clegg, DJ Weatherall |
Nature | 1981 |
Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia
RW Jones, JM Old, RJ Trent, JB Clegg, DJ Weatherall |
Nucleic Acids Research | 1981 |
The Molecular Basis of Mutant Hemoglobin Dysfunction
DR Harkness |
The Molecular Basis of Mutant Hemoglobin Dysfunction | 1981 |
A case of homozygous δ thalassemia not due to a deletion of the δ globin structural gene
JT Wilson, LB Wilson, Y Ohta |
Biochemical and Biophysical Research Communications | 1981 |
Genetic Engineering
P Little |
Genetic Engineering | 1981 |
Homozygous G γλβ thalassaemia
J Matthews, D ROWLANDS, J Wood, W Wood |
Clinical & Laboratory Haematology | 1981 |
Clinical and Hematological Evaluation of two δ 0 δ 0 - Thalassemia Homozygotes
G Dincol, C Altay, M Aksoy, A Gurgey, AE Felice, TH Huisman |
Hemoglobin | 1981 |
Advances in Human Genetics 11
H Harris, K Hirschhorn |
1981 | |
Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin
D Tuan, MJ Murnane, JK deRiel, BG Forget |
Nature | 1980 |
Globin Chain Electrophoresis: a New Approach to the Determination of theGγ/Aγ Ratio in Fetal Haemoglobin and to Studies of Globin Synthesis
BP Alter, SC Goff, GD Efremov, ME Gravely, TH Huisman |
British Journal of Haematology | 1980 |
Partial deletion of the α-globin structural gene in human α-thalassaemia
SH Orkin, A Michelson |
Nature | 1980 |
SPECIFIC ABNORMALITIES OF GLOBIN GENE ORGANIZATION IN THE THALASSEMIA SYNDROMES
SH Orkin |
Annals of the New York Academy of Sciences | 1980 |
Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene
SH Orkin, R Kolodner, A Michelson, R Husson |
Proceedings of the National Academy of Sciences | 1980 |
Clinical Implications of Recent Advances in Hemoglobin Disorders
SM Hanash, DL Rucknagel |
Medical Clinics of North America | 1980 |
Contemporary Hematology/Oncology
J LoBue, AS Gordon, R Silber, FM Muggia |
1980 | |
Disorders of Human Hemoglobin
A Bank, JG Mears, F Ramirez |
Science | 1980 |
Evolution of the Hemoglobin S and C Genes in World Populations
YW Kan, AM Dozy |
Science | 1980 |
The molecular basis of disorders of human hemoglobin synthesis
F Ramirez, JG Mears, A Bank |
Molecular and Cellular Biochemistry | 1980 |
A Comparison of the Homozygous States forGγ andGγAγ δβ Thalassaemia
AB Amin, NL Pandya, PP Diwin, PD Darbre, C Kattamis, A Metaxatou-Mavromati, JM White, WG Wood, JB Clegg, DJ Weatherall |
British Journal of Haematology | 1979 |