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

Diagnostic tests for most common hemoglobinopathies and recent advances in structural analysis of variant hemoglobins are reviewed. Routine and newly introduced methods that apply to the diagnosis of sickle cell anemia, thalassemia and the hemoglobin E disorders are presented. A brief description of the clinical course for each of these disorders is given, and potential pitfalls in diagnosis are discussed. Application of high-performance liquid chromatography and various mass spectrometric techniques (electrospray ionization mass spectrometry, liquid secondary ion mass spectrometry, and tandem mass spectrometry) for evaluation of hemoglobinopathy is presented.
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PMID:Laboratory diagnosis of hemoglobinopathies. 195 28

The haploid nucleus of a human cell contains 3 X 10(9) base pairs. Organized in linear duplex, this DNA would stretch out to a length of some 90 cm. Thus, organization of chromosomes has been a major subject for pioneer cytogenetists. Long lasting controversies on the strandedness of chromosomes, together with newly developed banding techniques, led us to molecular cytogenetics. Next, the discovery of reverse transcriptase, restriction endonucleases, and other recombinant DNA methods have enabled us to isolate and characterize genes from any organism and to determine the DNA sequences and any encoded protein sequences. These new technologies have already helped us to understand many inherited diseases at a molecular level. In sickle cell anemia, thalassemia and in other mendelian disorders we can know their molecular defects by examining the DNA from peripheral leukocytes, without the need for complex biochemical assays or biopsies. Southern blot analysis using restriction endonuclease and a probe is a basic tool for molecular diagnosis. cDNA or DNA fragments are used as probes. Recently, synthesized oligonucleotide probes are available, if the DNA sequence of a gene is determined. In addition, restriction fragment length polymorphisms (RFLPs), play a very important role in the molecular diagnosis. Linkage analysis using RFLPs linked to the gene locus of a certain disease also permits the detection of the patients and carriers within families with genetic diseases of unknown cause. Starting with the genetic map and physical map, genes for cystic fibrosis and Duchenne muscular dystrophy have recently been isolated and cloned.
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PMID:[Recent advances in human molecular genetics]. 197 24

To determine the prevalence and characteristics of priapism associated with sickle cell hemoglobinopathic conditions we interviewed and examined 52 men with sickle cell anemia, 10 with sickle C disease, 3 with sickle B(+)-thalassemia and 19 with sickle cell trait. Of the men 20 with sickle cell anemia (38%) and 1 with sickle B(+)-thalassemia (33%) reported past priapism attacks. Average patient age at onset in the sickle cell anemia patients was 19 years (range 8 to 30 years). Four men had had only 1 attack. The average number of attacks per year in the remaining patients ranged from 1 to 52. Of the patients who reported multiple attacks the average duration of a typical episode and the duration of the longest self-limiting episode was 1.6 and 7.0 hours, respectively. Six patients had experienced 1 attack that persisted for longer than 24 hours. There were no significant differences between the clinical and hematological parameters of the sickle cell anemia patients who did and did not experience priapism or of the priapism patients who had and had not experienced episodes lasting greater than 24 hours. Six patients had been hospitalized for priapism and 4 were treated with a shunting procedure. Of the latter patients 2 were impotent but there was no significant alteration in the sexual function of the other study participants.
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PMID:Priapism associated with the sickle cell hemoglobinopathies: prevalence, natural history and sequelae. 198 2

We have previously determined that in African sickle cell anemia (SS) patients three different beta-like globin gene cluster haplotypes are associated with different percent G gamma (one of the two types of non-alpha chains comprising hemoglobin F [HbF]), mean percent HbF, and percent dense cells. We report now that in adult New York SS patients, the presence of at least one chromosome with the Senegal haplotype is associated with higher Hb levels (1.2 g/dL higher) than is found for any other non-Senegal haplotype (P less than .004). The percent reticulocytes and the serum bilirubin levels were lower in these patients. When the effect of alpha-gene number was analyzed by examining a sample of SS patients with concomitant alpha-thalassemia, the same results were obtained. Because the HbF level is significantly higher among the Senegal haplotype carriers in this sample, the inhibitory effect on sickling of this Hb variant may be one of the reasons for the haplotype effect. We conclude that the Senegal beta-like globin gene cluster haplotype is associated with an amelioration of the hemolytic anemia that characterizes sickle cell disease.
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PMID:The Senegal DNA haplotype is associated with the amelioration of anemia in African-American sickle cell anemia patients. 200 60

Prenatal diagnosis of thalassemia and sickle cell anemia using DNA analysis has been performed in Israel since 1982. Until recently the tests involved analysis of polymorphic markers linked to the beta-globulin gene (RFLP). This method is not suitable for many of the families at risk. The recently developed technique of gene amplification in vitro (PCR) facilitates direct identification of the genetic lesions (mutations) using minimal amounts of DNA. The diagnosis is rapid, reliable and unambiguous and can be made early in pregnancy. Our experience in prenatal diagnosis during the past year is reported. Of 14 diagnoses, 13 were made by direct identification of mutations following PCR.
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PMID:[Prenatal diagnosis of thalassemia: identification of mutations in conjunction with gene amplification in vitro]. 200 87

The possibility that myocardial ischemia may be associated with chest pain during painful crises was evaluated prospectively in 20 patients (11 women and nine men) with sickle cell disease (19 SS, 1 S beta + thalassemia). Sixteen of 20 (80%) had abnormal ECGs, 7 (35%) had transient ST-T wave changes, and 3 (15%) had persistent ST-T wave changes, both consistent with ischemia; 6 (30%) had nonspecific ST-T changes, and 4 (20%) had normal tracings. Serum enzymes (CK, SGOT, LDH) were abnormal in 16 of 19 (84%); 1 had CK-MB detected, (5%) and 1 had LDH1 to LDH2 reversal. All 10 Tc-99m pyrophosphate scans performed were negative; 4 of 6 (66%) thallium-201 scans had focal defects, and 5 of 8 (63%) radionuclide angiograms (MUGAs) had focal wall motion abnormalities. Three of 8 (38%) MUGAs showed cardiac dilation, diffuse hypokinesis, and reduced ejection fractions. Thus, myocardial damage may be a potentially serious complication of patients with sickle cell anemia who present with chest pain during painful crises. Studies are indicated to define the significance and pathophysiology of these observations.
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PMID:Sickle cell anemia: does myocardial ischemia occur during crisis? 203 80

This study was conducted on 429 blood samples collected from Saudi males and females from Al-Ula in the north-western province of Saudi Arabia in order to determine the frequency of the sickle cell gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency gene, and alpha- and beta-thalassaemia genes, and to investigate the pattern of their interactions. The frequency of the sickle cell gene was 0.0785, while that of the beta-thalassaemia gene was 0.1195. Heterozygous alpha-thalassaemia 2 (- alpha/alpha alpha) was encountered at a frequency of 0.121, while homozygous alpha-thalassaemia 2 (- alpha/- alpha) occurred at a frequency of 0.0046. HbH disease and hydrops fetalis were not encountered. One case with triple alpha-gene arrangement, alpha alpha alpha anti-3.7, was identified. The G6PD deficiency gene frequency was 0.08 and 0.032 in males and females, respectively. Several cases with 2 abnormal genes were encountered. The haematological and biochemical data from the patients with sickle cell disease suggest that the disease in this population is more severe in comparison with cases reported from the eastern population.
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PMID:Patterns of sickle cell, thalassaemia and glucose-6-phosphate dehydrogenase deficiency genes in north-western Saudi Arabia. 205 Mar 79

In 1989 we are continuing to move gene diagnosis over to the direct detection mode. We have sickle cell anemia, alpha-thalassemia, beta-thalassemia, Duchenne muscular dystrophy, Becker muscular dystrophy and cystic fibrosis moved to direct detection with hemophilia B and alpha-1-antitrypsin deficiency soon to be there. For indirect detection, we still have hemophilia A, and a comment on the genetics of hemophilia A is important. Remember that sickle cell anemia is caused by one mutation, while beta-thalassemia and cystic fibrosis have a finite number of alleles. Duchenne muscular dystrophy results from a different mutation for every affected individual, but most of these are deletions and can be directly detected. Hemophilia A is another X-linked disorder with almost every affected individual having a different mutation. That means that there probably are 100 ways to get beta-thalassemia and about 10,000 ways to get hemophilia A, so we need some really good novel techniques to detect these directly, and we are working hard on such techniques. I would not be surprised if hemophilia A moved into the direct detection category in the next year or so. We need to find the Huntington disease gene, and then it will move into the direct detection column. Neurofibromatosis is still in the indirect detection group but also may move very soon. Polycystic kidney disease is also still in the indirect detection column. This summarizes where prenatal and presymptomatic gene diagnosis stands in late 1989.
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PMID:Current status of prenatal diagnosis by DNA analysis. 209 48

In Italy sickle cell disease is mainly represented by sickle cell anemia (beta s/beta s) and sickle cell thalassemia (beta s/beta oth or beta s/beta+ th). Association of Hb S with other beta variants has been observed in other ethnic groups. Since some of these variants have electrophoretic mobility at alkaline pH similar to Hb S, they are frequently misinterpreted as Hb S in the homozygote state. This paper reports the first case of Hb S/Hb D-Los Angeles observed in Italy. The authors underline the need to perform accurate and specific tests in all patients with sickle cell disease and available relatives, in order to exclude combinations of Hb S with other beta hemoglobin variants.
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PMID:Unusual sickle cell disease observed for the first time in Italy: Hb S-Hb D Los Angeles. 209 63

Bone marrow transplantation is the treatment of choice for a number of genetic diseases. Recently, bone marrow transplantation has been increasingly used for erythroid disorders, such as thalassemia and sickle cell anemia. A number of inherited metabolic disorders (i.e., storage diseases, leukodystrophies, and the like) may be corrected with a marrow transplant. Successful correction of genetic diseases with allogeneic bone marrow transplantation lays the groundwork for the use of specific gene therapy.
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PMID:Bone marrow transplantation for genetic diseases. 211 18


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