Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002878 (hemolytic anemia)
 7,530 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three delta beta-thalassemia homozygotes were found in a Mexican family. Both parents and two sibling had heterozygous delta beta-thalassemia with about 10% Hb F, mild microcytosis and mild hypochromia, while three siblings were normal. Hb F, which was the only Hb component in the homozygotes, had equal quantities of Ggamma and Agamma chains as in BgammaAgamma-delta beta-thalassemia. The homozygotes had comparable erythrocytic indices which were about the same as those of the heterozygotes. However, two were clinically and hematologically healthy but the third had a severe chronic hemolytic anemia and a more severe in vitro chain synthesis imbalance than her homozygous sisters. Comparison of these cases with other GgammaAgamma-delta beta-thalassemia homozygotes and with GgammaAgamma-HPFH homozygotes indicates the possibility that the proliferation of F-cell precursors may be defective in delta beta-thalassemia.
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PMID:Delta beta-thalassemia in a Mexican family: clinical differences among homozygotes. 75 May 52

Details are given of a study of blood samples from 24 patients with Hb H disease from different Mediterranean countries and from the Far East. Four different types of alpha-thal-1 (--) were observed, namely -(alpha) (approximately 20.5-kb deletion); --MED-I (approximately 17.5-kb deletion); --MED-II (greater than 26.5-kb deletion); and --SEA (approximately 18-kb deletion, in Orientals only). The alpha-thal-2 was mainly of the deletion type (16 with the 3.7-kb deletion; 1 with the 4.2-kb deletion), while 4 of the 7 patients with a nondeletional type had the five-nucleotide deletion at the donor splice site of the first intron of the alpha 2 gene. All patients had a mild-to-moderate hemolytic anemia; no significant differences in hematology were observed between the groups. Hb A2 was decreased to about one-third of the normal level. The Hb H formation varied considerably and its quantitation was not always satisfactory. Patients with Hb H disease due to any alpha-thal-1 combined with a nondeletional alpha-thal-2 had the highest Hb H levels and a more marked anemia. The zeta chain production was small and absent in patients with the MED-II type of alpha-thal-1 because this deletion included the zeta and psi zeta genes. The highest zeta chain levels were present in the four patients with the SEA type of alpha-thal-1. The gamma chain production was increased, particularly in patients with a mutation of C----T at position -158 to the G gamma globin gene. This gamma chain was primarily present as Hb Bart's (or gamma 4) and only about 15% was recovered as Hb F or alpha 2 gamma 2. The evaluation of the rate of gamma chains produced in these patients was greatly facilitated by data from one patient who had Hb H disease and a heterozygosity for the A gamma-beta+-HPFH. The low levels of Hb A2 and of Hb F (relative to Hb Bart's) can be explained by a decreased affinity of alpha chains for delta and gamma chains as compared with beta chains in conditions of severe alpha chain deficiency.
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PMID:The levels of zeta, gamma, and delta chains in patients with Hb H disease. 256 76

We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, and includes the entire beta-globin gene cluster and two upstream olfactory receptor genes. Comparison of the sequences of the deletion junction with those of the flanking normal DNA suggests that the deletion results from a non-homologous recombination event. The insertion of 16 'orphan' nucleotides in the deletion junction creates a perfect inverted repeat of 12 nucleotides, forming a 12-bp stem with a four-nucleotide loop that could have contributed to the illegitimate recombination. The 3' breakpoint is located within an L1 family repeat that contains a perfect 160-bp palindrome, and is in close proximity to the 3' breakpoints of five other deletions in the beta cluster - Indian (HPFH-3), Italian (HPFH-4) and Vietnamese GgammaAgamma (deltabeta) degrees HPFH, German and Belgian Ggamma (Alphagammadeltabeta) degrees thalassaemia.
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PMID:A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family. 1451 Sep 59