Delta-Beta Thalassemia

10/01/2018 - "Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India."
09/01/2014 - "The hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia are heterogeneous disorders characterised by increased levels of fetal hemoglobin and high level of this Hb continues in adulthood. "
01/01/2013 - "Delta beta-thalassemia is an uncommon cause of markedly elevated fetal hemoglobin beyond fetal period. "
01/01/2013 - "Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin."
01/01/2008 - "delta beta-Thalassemia (delta beta-thal) and hereditary persistence of fetal hemoglobin (HPFH) are heterogeneous disorders characterized by elevated levels of Hb F in adult life. "

06/15/1994 - "Our earlier study of the beta-globin gene on this delta beta-thalassemia chromosome showed a promoter mutation in the TATA box. "
11/01/1987 - "In this study we characterize the mutant beta-globin gene from this delta beta-thalassemia chromosome. "
01/01/1994 - "The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis. "
10/01/1989 - "Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites."
09/01/1988 - "However, the 3' breakpoint was localized between two Pst I sites 4.7 kb 3' of the beta-globin gene, thus ending about 0.7 kb upstream from the 3' breakpoint of the Sicilian delta beta-thalassemia. "

09/15/1992 - "In the present study, a PCR method using three specific oligonucleotides has been developed for the identification of the Spanish (delta beta)zero-thalassemia in 100 patients with delta beta-thalassemia (99 heterozygotes with mild anemia, decreased mean corpuscular volume, and 5% to 15% HbF, and one homozygote with 100% HbF and thalassemia intermedia phenotype). "
05/01/1988 - "Population studies using oligonucleotides complementary both to the -117 G----A and -196C----T mutations and the corresponding normal sequences confirm the presence of these mutations only in HPFH and delta beta-thalassemia chromosomes and exclude these changes being common DNA polymorphisms."

04/01/2022 - "The different hemoglobin variants detected were HbD, HbE and HbS in heterozygous state, high HbF (with a differential diagnosis of HPFH heterozygous and delta-beta thalassemia heterozygous), HbE homozygous, HbQ heterozygous and HbJ heterozygous. "
09/01/2016 - "Delta beta thalassemia: a rare hemoglobin variant."
12/01/1981 - "Analysis of the hemoglobin genes proved that the affected family members are suffering from heterozygous gamma-delta-beta-thalassemia, as originally described by Kan et al. (1972)."
01/01/1990 - "Analyses of the hemoglobin of their parents and other siblings indicated that they inherited a delta beta-thalassemia gene from the father and a beta zero thalassemia gene from the mother. "
01/01/1977 - "Hematological evaluation of six members of this family that included in vitro hemoglobin synthesis suggests that beta-(or delta beta-) thalassemia, beta-silent thalassemia, and mild and severe alpha-thalassemia genes are present in different combinations. "

06/15/1994 - "We have cloned a 13-kb DNA fragment that includes the G gamma and the A gamma genes and the 3' A gamma enhancer element of this delta beta-thalassemia chromosome. "
01/16/1985 - "High molecular weight DNA from a Japanese individual homozygous for delta beta-thalassemia was analyzed by the blot hybridization technique of Southern. "
03/01/1981 - "Since the extent of DNA deletion in this family differs from that reported in another family, we conclude that gamma delta beta-thalassemia is heterogeneous at the molecular level."
03/01/1981 - "Heterogeneity of DNA deletion in gamma delta beta-thalassemia."
01/01/1980 - "In homozygous delta beta thalassemia DNA, there is deletion of all of the normal delta and beta gene fragments. "

06/15/1994 - "Considering the resulting two discrete phenotypes (ie, delta beta-thalassemia v HPFH), it can be hypothesized that the deleted sequences in the Italian HPFH-5 mutation may harbor regulatory elements that exert a negative control on the gamma-globin gene expression."
01/16/1985 - "But the novel deletion found in the present case of delta beta-thalassemia suggests that the above putative regulatory region does not have this effect on expression of the gamma-globin gene. "
01/01/1980 - "Retention of this fragment in delta beta thalassemia, but not in HPFH is consistent with a role for sequences in this region for limiting gamma globin gene expression. "
09/01/1979 - "Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia."
05/01/1988 - "Another hereditary condition characterized by increased HbF (alpha 2 A gamma 2) level and a mild thalassemia phenotype in Sardinia is associated with the -196C----T substitution in the A gamma-globin gene promoter (Sardinian delta beta-thalassemia). "

06/15/1994 - "In this report, we describe the results of our study of the fetal globin domain of this delta beta-thalassemia chromosome. "
06/15/1994 - "We have previously described a unique type of delta beta-thalassemia in a Chinese family characterized by increased expression of the G gamma and A gamma fetal globin genes in the absence of a large deletion in the beta-globlin gene cluster. "
02/15/1994 - "The in vivo expression of the globin genes of the beta cistron in gamma-, delta-, and delta beta-thalassemia heterozygotes."
01/16/1985 - "Some explanations of expression of fetal type globin genes in this delta beta-thalassemia are discussed."
06/01/1975 - "Human globin gene analysis for a patient with beta-o/delta beta-thalassemia."

06/01/1983 - "We have used restriction endonuclease mapping to study a deletion involving the beta-globin gene cluster in a Mexican-American family with gamma delta beta-thalassemia. "
09/01/1988 - "Extensive restriction endonuclease mapping defined the 5' breakpoint within the IVS II of the delta-globin gene, between positions 775 to 781 very similar to the 5' breakpoint of the Sicilian delta beta-thalassemia. "
10/01/1986 - "Restriction endonuclease mapping analyses were made of DNA from a few members of a Macedonian family with hematological characteristics of delta beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains (average 59.5%). "
03/01/1981 - "By restriction endonuclease mapping, gene cloning, and DNA sequencing we have determined the region of DNA that is deleted in a family with gamma delta beta-thalassemia. "
01/10/1984 - "Unique bands are seen when cellular DNA from this patient is digested with a variety of restriction endonucleases and hybridized with a probe specific for the delta IVS 2. Extensive analysis of the Israeli delta beta thalassemia DNA as well as material from an Italian delta beta thalassemia homozygote with enzymes which cleave more frequently in delta IVS 2 has localized the 5' end of the deletion to a 107-base pair region within delta IVS 2. This region contains a unique repetitive sequence (TG)4 which has been reported to be a specific recognition signal for recombination and may be involved in the formation of these mutant genes. "

03/15/1994 - "Thirteen individuals from this group were shown to be heterozygous for the 13.4-kb Sicilian deletion, two were heterozygous for the 100-kb Chinese G gamma(A gamma delta beta)zero deletion, four were heterozygous for the Turkish form of inversion-deletion delta beta thalassemia, and three were heterozygous for the Asian-Indian form of inversion-deletion G gamma(A gamma delta beta)zero thalassemia. "
07/01/1981 - "High pressure liquid chromatography (HPLC) was applied to the HbF isolated from blood of numerous black patients with beta-thalassemia trait or homozygosity, G gamma-delta beta-thalassemia trait, G gamma A-gamma HPFH heterozygosity, or the G gamma-[delta+ beta+]-HPFH condition. "
06/01/1983 - "We describe the clinical and hematological findings in a 5-year-old boy with G gamma A gamma delta beta thalassemia, a G gamma A gamma heterocellular form of HPFH, beta(0) thalassemia, and albinism. "
06/01/1983 - "Unusual combination of genetic defects in a Sicilian boy: G gamma delta beta thalassemia, G gamma A gamma heterocellular HPFH, beta (0) thalassemia, and albinism."
02/01/1995 - "The molecular study was focused on the type of the deletion and the status of G gamma-XmnI polymorphism, whereas the biochemical approach was centered on the G gamma/A gamma ratio as well as the frequency of the A gamma T chain in the fetal hemoglobin of 19 delta beta-thalassemia heterozygotes and 3 homozygotes. "

09/01/1993 - "A mother with HPFH and another mother with delta-beta thalassemia with false positive result of the acid-elution test are described and the need for an extension of the clinical and laboratory study in families with hereditary HbF disorder is stressed."
06/01/2002 - "The cellular distribution of hemoglobin F is important for evaluating persistently elevated hemoglobin F levels, such as in hereditary persistence of fetal hemoglobin (HPFH) or delta/beta-thalassemia, and for differentiating homozygous hemoglobin S (or hemoglobin S-beta(0)-thalassemia) from hemoglobin S-HPFH, traditionally done by using the Kleihauer-Betke (K-B) acid elution test. "