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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical spectrum of HbH disease varies from a benign disorder to a severe anemia which is blood-transfusion dependent. Heterogeneity at the clinical level is now being understood in terms of the underlying molecular defects. In this study a mild phenotype found in a group of patients with HbH disease is associated with two types of alpha-thalassemia. These are: alpha+-thalassemia (-alpha 3.7/) and alpha 0-thalassemia (--SEA/). In contrast, a second group with more severe HbH disease has a non-deletional alpha-thalassemia defect instead of alpha+-thalassemia (genotype alpha alpha T/--SEA). In the majority of cases, the basis for non-deletional alpha-thalassemia is Hb Constant Spring.
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PMID:A molecular marker associated with mild hemoglobin H disease. 276 43

We have determined the molecular characteristics of alpha-thalassemia in 12 HbH subjects from Taiwan by restriction endonuclease mapping with alpha- and zeta-specific probes. We have found four types of defects in the alpha-thalassemia-2 genetic determinant: -alpha 3.7 type I; -alpha 4.2; alpha CS alpha; and alpha alpha T. All HbH subjects carried the --SEA genotype in the alpha-thalassemia-1 determinant. At least two different subtypes of --SEA genotype were observed in this study.
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PMID:The molecular basis of HbH disease in Taiwan. 282 23

Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the - alpha 3.7 type I/--SEA genotype. Variations are observed in the size of the zeta polymorphic fragments.
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PMID:Molecular characterization of HbH disease in the Cuban population. 300

The presence of minute amounts of embryonic zeta-globin chains in adult hemolysates is a marker for carriers of alpha-thalassemia-1 resulting from (--SEA/) deletion. Recently, we developed a murine monoclonal antihuman embryonic zeta-globin chain antibody, 8E8. By using this antibody, we have now established a slot-blot immunobinding assay for the rapid detection of zeta-globin chains in adult hemolysates. zeta-globin chains were found to be present in 30 blood samples obtained from individuals who were carriers of alpha-thalassemia-1. In another 30 blood samples from individuals who were not carriers of the (--SEA/) deletion, zeta-globin chains were not detected. This simple diagnostic test can be used in appropriate populations to identify those couples at risk of conceiving fetuses afflicted with the Hb Bart's hydrops fetalis syndrome due to homozygous alpha-thalassemia.
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PMID:A novel monoclonal antibody based diagnostic test for alpha-thalassemia-1 carriers due to the (-SEA/) deletion. 317 41

A murine hybridoma cell line secreting monoclonal anti-human embryonic zeta-globin chain antibody has been established. Using this monoclonal antibody, a slot blot immunobinding assay for the detection of zeta-globin chains in adult hemolysates has been developed. This simple test can identify individuals who are alpha-thalassemia-1 carriers due to the (-SEA/) deletion. It is proposed that this test should be made generally available in Southeast Asia and Southern China, in order to identify couples who are at risk of begetting fetuses afflicted with homozygous alpha-thalassemia.
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PMID:Potential application of a new screening test for alpha-thalassemia-1 carriers. 320 89

The molecular basis of seven Chinese patients in Taiwan with hemoglobin H disease was investigated and was found to be heterogeneous in the mutation type. They were alpha-thalassemia-1 mutation combined with hemoglobin Constant Spring, an undetermined nondeletion form of alpha-thalassemia and a deletion form of alpha-thalassemia-2 mutations. The alpha-thalassemia-1 mutation was shown to be the --SEA type I haplotype.
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PMID:Molecular analysis of hemoglobin H disease in Taiwan. 340 10

The cord blood of 1,207 randomly selected neonates from the Cape Coloured population of South Africa was analysed for the presence of Hb Barts. 40 individuals (3.3%) had detectable Hb Barts levels with values ranging from 1.1 to 7.3%. Restriction enzyme analysis of DNA from subjects with Hb Barts showed that 85% of the cases studied had the genotypes -alpha 3.7/alpha alpha or -alpha 3.7/-alpha 3.7. The observed frequency of the -alpha/alpha alpha genotype was much lower than the expected frequency which suggests that this genotype is often not associated with detectable levels of Hb Barts. Mapping of the sigma-globin locus in three subjects with HbH disease revealed the presence of the--SEA/alpha-thalassaemia determinant in this population.
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PMID:Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population. 392 31

We have studied nearly 100 patients with beta-thalassaemia major and 60 patients with Hb H disease who were attending the Haematology Clinic of Guangxi Medical College. Treatment of the patients was limited and only a few patients with beta-thalassaemia major received blood transfusion(s). As a result, the severe anaemia has led to early death at 3-4 years for beta zero-thalassaemia homozygotes, and 8-12 years for beta(+)-thalassaemia homozygotes. Four beta-thalassaemia alleles are responsible for nearly 90% of all beta-thalassaemia chromosomes. This information has resulted in the initiation of a prenatal testing programme at the local level. The patients with Hb H disease maintained a haemoglobin level of 6-10 g/dl and early death was infrequently observed. The --SEA deletion was the major type of alpha-thalassemia-1, while three smaller deletions (-2.7, -3.7 and -4.2 kb) and two nondeletional alpha-thalassaemia determinants (Hbs Constant Spring and Quong Sze) were the alpha-thalassaemia-2 types.
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PMID:Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization. 751 67

We present an analysis of the thalassemic alleles observed in Mexican mestizos. In 18 unrelated patients with mild to severe hemolytic anemia we saw 16 with beta-thal and two with alpha-thal and identified 25 chromosomes with 14 different alleles (10 for beta-thal), predominating the Mediterranean type (seven beta-thal and two alpha-thal). The most common mutation was the nonsense Cd 39 observed in seven chromosomes (28%); the other mutants were three Asian alleles, one beta-thal Indian (IVS-1 nt 5 G-->C), two Southeast Asian alpha-thal (-SEA and the -FIL), one Kurdish Jew (-28 A-->C) and one Mexican (Cd 11 -T). These findings suggest a marked molecular heterogeneity in the thalassemia genes in Mexico.
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PMID:[Thalassemic alleles in Mexican mestizos]. 761 Feb 81

In many developing countries the haemoglobinopathies (thalassaemias and sickle-cell disorder) are so common that they provide a convenient model for working out a genetic approach to control of chronic childhood diseases. At present, about 250 million people (4.5% of the world population) carry a potentially pathological haemoglobinopathy gene. Each year about 300,000 infants are born with major haemoglobinopathies. Haemoglobinopathy control programmes, based on WHO approaches and recommendations, have been established in different countries in all WHO Regions and have been successful in management of the problem. Following WHO recommendations the health burden of hereditary anaemias could be significantly reduced. This article summarizes the presentations and discussion made at a joint WHO/TIF (Thalassaemia International Federation) meeting, held in Cyprus in April 1993, and reviews the experience of programmes in several countries for the control of haemoglobinopathies in the world.
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PMID:Prevention and control of haemoglobinopathies. 761 70


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