Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prenatal diagnoses of the genetic disorders alpha, beta thalassemia, HbS, Hb Lepore, hemophilia and cystic fibrosis were sought in 88 cases. Six unsuccessful attempts at diagnosis resulted from DNA polymorphisms which were only 50% informative (four cases) and prenatal diagnoses which had been undertaken before it was known whether DNA polymorphisms in family studies were informative (two cases). The most frequent indications for prenatal diagnosis were the hemoglobinopathies although requests for exclusion of cystic fibrosis formed the majority during 1989. Strong linkage disequilibrium between the cystic fibrosis defect and its associated DNA polymorphisms facilitated detection of this disorder. Late presentations among patients with beta thalassemia and hemophilia and the necessity for more specialised genetic counselling were the commonest problems encountered.
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PMID:Experience of a molecular genetics service in prenatal diagnosis by DNA analysis. 224 30

Splenectomy for massive splenomegaly and hypersplenism carries a significant morbidity and mortality. We have used partial splenic embolization (PSE) as an effective alternative to splenectomy. Ten PSE procedures were performed on nine patients without mortality and with minimal morbidity. The age of the patients ranged from 8 months to 32 years (mean 14 years). The causes of splenomegaly and hypersplenism included cystic fibrosis with cirrhosis (2), tyrosinemia and cirrhosis (1); thalassemia (1), hemophilia with Human Immune Deficiency Virus infection (2), chronic hepatitis with portal hypertension (1), malignant histiocytosis (1), and Wiskott-Aldrich Syndrome (1). All procedures were performed under local anesthesia with sedation. A percutaneous femoral artery approach to the splenic artery was used to deliver Ivalon sponge particles (280-800 microns) into the spleen. Splenic infarction was assessed by postembolization angiograms. All of the patients except one demonstrated improvement of hematologic parameters. In one patient, however, cytopenia improved only after a second embolization. In the total series, there was an early mean rise of 8,600/mm3 in the leukocyte count (range 2,900-14,900) and 212,000/mm3 in the platelet count (range 30,000-718,000). Follow-up ranged from 4 months to 7 years. Improvement of the blood picture has been persistent in seven of the eight patients who showed initial improvement. Transient procedural complications included fever (5), pleural effusion (2), pneumonia (1), and splenic abscess (1). One patient had paralytic ileus lasting for 10 days and one patient developed a streptococcal peritonitis 3 weeks after embolization. No patient developed pancreatitis or vascular compromise of other abdominal viscera.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Partial splenic embolization. An effective alternative to splenectomy for hypersplenism. 226 5

There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We describe here two families seeking prenatal diagnosis for CF which present unusual counselling problems. The first is an extended family in which there is no living affected member with CF; the second, a consanguinous marriage at risk both for cystic fibrosis and beta-thalassaemia. In both cases first trimester chorionic villus sampling and DNA haplotype analysis predicted that the fetus is a carrier for CF, and in the doubly affected family a carrier for beta-thalassaemia as well. Both pregnancies resulted in live births and subsequent immunoreactive trypsin estimations were both in the normal range.
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PMID:Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes. 358 40

Abnormal haemoglobins produce a variety of anaemias which range in effect from being very mild to lethal. The most common of these are the sickle cell disorders and thalassaemias. In London, thalassaemia affects 3.5% of the Maltese population, 2.5% of the Italian population and 1.5% of the West Indian population respectively. Seventeen per cent of the Cypriot population carry a thalassaemia gene. Sickle cell disease occurs in 500:100,000 people in Britain's black population but is not exclusive to people of Afro-Caribbean origin. The gene is carried by 1 in 10 people. Sickle cell disease is statistically more prevalent among the host population than is phenylketonuria (10-12:100,000), hypothyroidism (20:100,000) and cystic fibrosis (62-63:100,000) in the general population. Although these diseases are routinely screened for at birth, there is no general strategy among district health authorities for sickle cell screening. It has been shown that of 76 health districts with a 3+% ethnic minority population, 30 of which have an ethnic minority population of 'over 10%', only 6 have a comprehensive health care policy for people with sickle cell disease.
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PMID:Sickle cell disease: implications for nursing care. 364 62

Ribs and vertebrae of 8 children and young adults aged from 17 months to 24 years with juvenile-onset diabetes mellitus, 4 with diabetes secondary to cystic fibrosis and 2 with diabetes secondary to thalassemia major, were analyzed for osteoporosis by a point-count morphometric method. The mean ratio of bone spicule to marrow space in cancellous bone of ribs of patients with juvenile-onset diabetes mellitus or with diabetes mellitus secondary to cystic fibrosis or thalassemia was 55% that of 10 control patients. The lengths of the zones of proliferating and mature cartilage cells in costal epiphyses of patients with juvenile-onset diabetes mellitus were also below normal. The ratio of bone spicule to marrow space of vertebrae of the diabetic patients was not significantly different from control values. The data confirm clinical reports that osteoporosis is a regular feature of juvenile-onset diabetes mellitus and suggest that the degree of bone matrix and mineral deficiency in such patients is greater than is usually considered.
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PMID:Osteoporosis in juvenile-onset diabetes mellitus: morphometric and comparative studies. 382 40

The weights of the spleens of series of patients with various disorders of children dating from birth or early infancy and causing splenomegaly, with or without cirrhosis of the liver, were analyzed. The linear regression equation for spleen weight versus age in months for each disease was derived, and the rate constants from these equations were adjusted for the age range of the patients in each group. The original data of Coppoletta and Wolbach were used for normal values. The rates of splenic growth of appropriate entities for which the regression equation could be computed fell into three groups, with adjusted rate constants (growth of spleen in grams per month) of 6.53-6.95 (biliary atresia, thalassemia, and cirrhosis following neonatal hepatitis), 2.30-2.62 (cirrhosis of alpha-1-antitrypsin deficiency, infantile polycystic disease, and spherocytosis), and 1.06-1.11 (cystic fibrosis and idiopathic thrombocytopenic purpura). These classes of splenic growth rates are approximately 10, 3.7, and 1.6 times the normal growth rate (0.67 g/mo). Rate constants could not be computed for the categories cirrhosis following viral hepatitis and hemolytic anemia other than spherocytosis and sickle cell anemia, and the numbers of patients with splenic vein obstruction, cirrhosis with the cholestatic syndrome of parenteral alimentation, hypoplastic anemia with hemosiderosis, tyrosinemia, Byler's disease, congenital hepatic fibrosis, and Wilson's disease were too few for analysis. The significance of the finding of classes or "quantum groups" of splenic growth rates in disorders of children, dating from birth or early infancy and causing splenomegaly, is uncertain. Comparable data on adequate series of patients with other appropriate disorders will be necessary.
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PMID:Splenic growth rates in cirrhotic and other splenomegalic diseases of childhood. 384 62

In order to gain understanding of some of the problems of genetic counseling for a severe recessive disease in England, a Greek Cypriot extended family including 87 living members and known to be transmitting a beta-thalassaemia gene was investigated for the extent and the sources of their knowledge about thalassaemia. 42% of members tested carried beta-thalassaemia trait: nearly half were already aware of this, but only 10% of the non-carriers were aware of their status. The study illustrated many of the difficulties in conveying accurate counselling to a whole community and the need for active involvement of all health workers, especially general practitioners. This study is also relevant to the approaching possibility of genetic counseling for cystic fibrosis.
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PMID:Thalassaemia as a model of recessive genetic disease in the community. 610 48

Cystic fibrosis gene mutations can vary in frequency between different ethnic populations. However, there is a rising trend of ethnic intermarriage in the United States, a situation suggesting that differences in specific mutation frequencies currently apparent in Europe may not persist for long in this country. Therefore, limited mutation screens targeted at specific ethnic groups and risk calculations based on data from more homogeneous European populations may not be appropriate in the United States. The genetic consequences of ethnic admixture are also likely to extend to other recessive diseases (e.g., Tay-Sachs, thalassemia), which, in the past, have been limited largely to particular ethnic, racial, or religious subgroups, with implications for public health agencies overseeing newborn screening programs for genetic diseases and for clinical genetics programs offering population-based carrier-detection programs, carrier risk assessment, and counseling.
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PMID:Ethnic intermarriage and its consequences for cystic fibrosis carrier screening. 749 2

The current state of molecular diagnosis of some common genetic diseases, including cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B, phenylketonuria, and thalassaemia, in Russia and elsewhere in the former USSR is reviewed. Data on carrier detection and prenatal diagnosis are presented and some objective problems and obstacles hampering efficient molecular diagnosis in Russia are discussed. The necessity for molecular diagnosis of some other inherited diseases (for example, von Willebrand's disease, Martin-Bell syndrome, polycystic kidney disease, Huntington's disease, and myotonic dystrophy) is stressed. The need for establishing new diagnostic centres dealing with the most common diseases, as well as rare genetic diseases, is substantiated. Perspectives on the implementation of new molecular methods and new technical approaches (preimplantation embryo diagnosis, fetal cells selected from maternal blood) are briefly outlined.
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PMID:Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. 844 19

1) Uniparental disomy (UPD) results from the exceptional derivation of a pair of the offspring chromosome from one parent only and has been documented thus far for chromosomes 2, 4, 5, 6, 7, 11, 13, 14, 15, 20, 21, 22 both X's and the XY pair. Its consequences on the phenotype may result from three potentially harmful effects, namely isodisomy, interference with genomic imprinting and, occasionally the vestigial aneuploidy from which UPD may have originated. 2) In isodisomy, the uniparental pair is partially or entirely homozygous, through the duplication of a same chromosomal DNA template, thus bringing about an increased risk of recessive disorders. As a result, conditions such as cystic fibrosis, a type of osteogenesis imperfecta, thalassemia alpha or beta, retinoblastoma, rod monochromacy, etc., have now been reported. 3) Duplication of both homologues of a parental pair in a diploid genome is called heterodisomy. Both iso- and heterodisomy may also cause disruption of the genomic imprints normally modifying the differential expression of some maternal and paternal genes or gene sequences needed for eugenic growth and development, in the course of normal biparental inheritance. Such a disturbance can be one of the causes of congenital clinical entities as well defined as Angelman, Prader-Willi or Beckwith-Wiedemann syndromes and some new syndromes, for instance for UPD 7 mat, UPD 14 mat and, probably also 14 pat. 4) All in all, UPD can cause morbidity or lethality by altering imprinting processes, mimicking certain deletions or duplications, generating recessive disorders or prompting malignant tumor development. 5) In the clinical field, UPD occasionally upsets some mendelian tenets of traditional inheritance, and raises, the question of the evolutional role plaid by genomic imprinting (GI). An hypothetical opinion is that one of GI potential side effects is a biased intergenerational preferential display or skip of parental features. This could be so because some of the inherited genes or gene domains only gain maternal or paternal expression in the offspring, as a function of their parental imprint.
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PMID:[Uniparental disomy: a review of causes and clinical sequelae]. 854 Jun 83


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