delta-Thalassemia

A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.

Also Known As:

Networked: 34 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	beta-Thalassemia (Cooley's Anemia)
2.	alpha-Thalassemia
3.	Thalassemia
4.	Neoplasms (Cancer)

Experts

1.	Dutly, Fabrizio: 2 articles (01/2010 - 01/2005)
2.	Frischknecht, Hannes: 2 articles (01/2010 - 01/2005)
3.	Komori, Toshiaki: 1 article (05/2015)
4.	Nakamura, Terukazu: 1 article (05/2015)
5.	Yamashiro, Yasuhiro: 1 article (05/2015)
6.	Inaba, Tohru: 1 article (05/2015)
7.	Hirose, Yuri: 1 article (05/2015)
8.	Fujita, Naohisa: 1 article (05/2015)
9.	Nanbu, Akira: 1 article (05/2015)
10.	Shimotsuma, Masao: 1 article (05/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to delta-Thalassemia:

1.	delta-GlobinsIBA 12/15/1991 - "Screening for molecular defects that cause delta-thalassemia or unstable delta-globin by PCR amplification and restriction enzyme digestion will lead to correct diagnosis of beta/delta-thalassemia compound heterozygotes and improved genetic counseling." 08/01/1988 - "In this study, we used cloning and sequence analysis to define the molecular defect in two delta-thalassemia genes, one associated with reduced output of delta-globin chains (delta +thal) from a Sardinian and the other with a complete suppression of delta-chain production from the affected locus (delta zerp thal) from a Southern Italian. " 01/01/2005 - "Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene." 11/01/2003 - "delta-Globin gene activation has been proposed as a potential therapeutic tool for the cure of delta-thalassemia (thal). " 01/01/1997 - "Scanning method to identify the molecular heterogeneity of delta-globin gene especially in delta-thalassemias: detection of three novel substitutions in the promoter region of the gene."
2.	hemoglobin NYUIBA 11/01/1969 - "In members of one of the families in the present study, the visual estimations of normal Hb A(2) and of Hb NYU on starch-gel electrophoretic patterns suggested the presence of delta-thalassemia. " 02/01/2011 - "Known variants such as Hb A2-Babinga, Hb A2-Sphakia, Hb A2-Fitzroy, Hb A2-Flatbush, Hb A2-NYU, Hb A2-Grovetown, HbA2-Yialousa, Hb A2-Indonesia and several delta-thalassemia mutations were found together with 13 new mutations and two new polymorphisms, while Hb Lepores were regularly observed. "
3.	Starch (Cornstarch)IBA 11/01/1969 - "In members of one of the families in the present study, the visual estimations of normal Hb A(2) and of Hb NYU on starch-gel electrophoretic patterns suggested the presence of delta-thalassemia. "
4.	Oxyhemoglobins (Oxyhemoglobin)IBA 04/15/1970 - "[Preliminary study of the oxyhemoglobin dissociation curve in some cases of beta- and beta delta-thalassemia]."
5.	hemoglobin A2'IBA 01/01/1992 - "Subjects with less than 1.3% Hb A2, some of whom might be also carriers for delta-thalassemia determinants, had high G gamma values (54-70%). " 09/21/1989 - "Thus, the 'delta-thalassemia' is caused by the presence of an Hb A2 variant that is considered to be unstable to a similar extent as is Hb Köln, its beta chain counterpart." 01/01/1980 - "Six families with delta-thalassemia have been found in Japan, in which 10 individuals are delta-thalassemia homozygotes with complete deficiency of Hb A2 and 18 individuals are heterozygotes with low levels of Hb A2. " 01/01/2005 - "Two new delta-globin gene mutations have been detected: one leads to a fairly stable Hb A2 variant differing electrophoretically only minimally from normal Hb A2, and the second causes a delta(+)-thalassemia (thal) phenotype." 04/08/2015 - "We describe a novel delta-thalassemia mutation causing decreased hemoglobin (Hb) A2 levels associated with Hb Watts, variant Hb resulting from a trinucleotide deletion in Spain. "
6.	beta-Globins (beta Globin)IBA 01/01/2006 - "The new delta-thalassemia defect HBD c.-118C->T (d -68 C->T) has no homology on the beta-globin gene (HBB, MIM# 141900). " 08/01/1983 - "We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. " 03/01/1994 - "The classical phenotype of heterozygous beta-thalassemia may be modified by a number of environmental and genetic interacting factors--among which the most relevant are: (1) coinheritance of alpha-thalassemia, which may normalize the red blood cell indices; (2) the presence of a mild beta-thalassemia mutation; (3) cotransmission of delta-thalassemia which may reduce the increase of HbA2 typical of heterozygous beta-thalassemia to normal values and (4) the presence of a silent mutation which can be defined only by imbalanced beta-globin chain synthesis. "
7.	Hemoglobins (Hemoglobin)IBA 01/01/2010 - "Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles." 01/01/1965 - "Interaction between genes for delta thalassemia and hereditary persistence of foetal hemoglobin." 04/08/2015 - "We describe a novel delta-thalassemia mutation causing decreased hemoglobin (Hb) A2 levels associated with Hb Watts, variant Hb resulting from a trinucleotide deletion in Spain. "
8.	Fetal Hemoglobin (Hemoglobin F)IBA 01/01/1981 - "For diagnosis of beta- and beta delta-thalassemia in the first year of life the physiological changes of hemoglobin F and A2 levels occurring in this age group have to be considered. " 06/01/1971 - "Homozygous delta-thalassemia first discovered in Japanese family with hereditary persistence of fetal hemoglobin." 05/01/2015 - "[Testicular Tumor in a Patient with Delta Thalassemia Complicated with Hereditary Persistence of Fetal Hemoglobin]."
9.	DNA (Deoxyribonucleic Acid)IBA 09/01/1994 - "Heterogeneous "mild" beta-thalassemia mutations as well as coexisting delta-thalassemia were found in silent type I and type II beta-thalassemia carriers which, without chain synthesis and DNA investigations, would have escaped detection." 08/01/1988 - "The definition of delta-thalassemia defects in each high-risk area facilitates identification of double heterozygotes for delta- and beta-thalassemia by DNA analysis and may thus improve genetic counseling." 09/01/1992 - "To elucidate the significance of the mutation in delta-globin gene expression, we investigated the genotype of three delta-thalassemia homozygotes and 58 normal individuals using dot blot hybridization of the polymerase chain reaction (PCR)-amplified DNA. "
10.	Codon (Codons)IBA 11/01/2001 - "Observation of the codon 27 (GCC-->TCC) delta-thalassemia allele in cis to the IVS-I-6 (T-->C) beta-thalassemia allele in a family from West Sicily." 01/01/1992 - "A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin." 01/01/1989 - "Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family."