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)

In the past three years 42 patients with heterozygous beta-thalassemia have been observed in our clinic. This group included 39 foreign and three German patients. A ratio of the MCV and the number of erythrocytes below 14 and normal serum iron level distinguish between the hereditary anemia and iron deficiency anemia. The diagnosis is confirmed by haemoglobin electrophoresis. For recognition of the most frequent type in Europe - the heterozygous beta-thalassemia - the demonstration of an elevated HbA2 level by simple microcolumn technique is sufficient. Ten out of 42 patients have been operated because of cholelithiasis. Five additional persons revealed gall bladder stones by ultrasonography. The high incidence of 36% in relatively young patients probably is due to longstanding hemolysis, which produces usually radiolucent pigment stones. Therefore attempts to dissolve gall bladder stones in patients with thalassemia do not seem to be rewarding.
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PMID:[Diagnosis of heterozygous beta-thalassemia]. 707 13

A family suggesting cosegregation of beta-thalassemia minor and bipolar affective disorder was reported. The monogenic hereditary anemia was surveyed over three generations in this family, and three patients with the beta-thalassemia and the bipolar affective disorder were observed over two generations. The localization of a gene responsible for bipolar affective disorder was discussed on the basis of previous reports.
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PMID:Bipolar affective disorder associated with beta-thalassemia minor. 778 63

Thalassemia, a hereditary anemia, has been a major public health problem in Thailand and Southeast Asia for decades, yet the prevalence of thalassemia in Thailand is not decreasing due to lack of awareness of this disease in Thai population, which implied that genetic counseling was a failure. We determined the problems and obstacles in thalassemia counseling in Thailand and proposed the possible solutions in order to deliver genetic counseling and services to the communities more efficiently. A survey in thalassemia services was carried out in 12 hospitals; 9 in Bangkok, 3 in the North, Northeast, and South of Thailand respectively, by using questionnaire designed to assess the healthcare system, characteristics of target population, methods of genetic counseling, knowledge and attitudes of counselors, thalassemia support group, and researches in thalassemia, in a cross-sectional descriptive research design. The main problems in genetic counseling for thalassemia in Thailand are the followings; thalassemia problems not visible to the administrators, unorganized teamwork and services, lack of knowledge and inadequate numbers of counselors, lack of thalassemia support group, and inadequate researches in thalassemia prevention and control. The possible solutions are proposed. This study has pointed out the unseen problems and obstacles, along with the solutions in genetic counseling, given correctly, will help create awareness of thalassemia impact on health and socioeconomics in the Thai population. Thus, genetic counseling, with well-established guidelines, is a critical component for the success of prevention and control of thalassemia in Thailand.
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PMID:Genetic counseling for thalassemia in Thailand: problems and solutions. 1155 98

Alpha-thalassemia is a common hereditary anemia due to decreased or absent synthesis of alpha-globin chains. The most common causes of alpha-thalassemia are deletions that remove one or both functional alpha-globin genes, with a small proportion of cases involving nondeletional mutations of the alpha2- or alpha1-globin genes. Herein, we describe a single-tube multiplex amplification refractory mutation system (ARMS) assay for rapid detection of six of the most common and severe nondeletional alpha-thalassemia mutations. These alleles are found predominantly among southeast Asian populations, and are associated with the most severe forms of hemoglobin (Hb) H disease or Hb H hydrops fetalis.
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PMID:Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay. 1196 May 79

Beta-thalassemia, the most common hereditary anemia in the Mediterranean area, results from over 200 causative mutations in the beta-globin locus. The aim of this study was to validate a denaturing high-performance liquid chromatography (dHPLC)-based assay for postnatal and prenatal molecular diagnosis of beta-thalassemia in Southern Italy. Sixty beta-thalassemic patients, affected either by thalassemia intermedia or thalassemia major, were analyzed in a blind study. We also carried out prenatal molecular diagnosis in 12 couples at-risk for having affected offspring. Chorionic villi samples were subjected to dHPLC analysis upon molecular characterization of the parental beta-globin alleles. Direct sequence analysis was used to validate each result, showing an accuracy rate of 100% for dHPLC. Overall, our protocol was able to identify the responsible mutations in all 96 analyzed subjects (including 12 prenatals in at-risk pregnancies), detecting the eight most common mutations in Southern Italy. Three rare mutations (one of which, reported here for the first time) that standard mutation detection methods failed to reveal, were also identified. dHPLC assay proved to be a reliable, rapid, and sensitive method for detecting both common and rare mutations within the beta-globin gene. Because of this property our protocol has the potential to be implemented for mutational screening in different areas of high prevalence for beta-thalassemia.
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PMID:Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy. 1464 6

Thalassemia is the most common hereditary anemia throughout the world. Survival in its most severe long-term form, beta-thalassemia major, has significantly risen in the last decades. Cardiac morbidity-heart failure and dysrhythmias-is still the most common cause of mortality in these patients. We describe herein a case of myocardial infarction with normal coronary arteries in a 48-year-old patient with beta-thalassemia and no other recognized risk factors for coronary artery disease. Thromboembolic phenomena, a known situation in these patients, occur at a frequency of 4-5%. However, as far as we know, this is the first report in the literature of myocardial infarction in association with beta-thalassemia. With the notable improvement in the life expectancy of thalassemia patients, ischemic heart disease may become an important complication encountered in these patients.
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PMID:Myocardial infarction in a patient with beta-thalassemia major: first report. 1469 33

Beta-thalassemia is a hereditary anemia that is quite prevalent in Lebanon. Most patients with beta-Thalassemia are treated and followed up mostly at a multidisciplinary center, located in the suburban area of Beirut: the Chronic Care Center (CCC), operational since 1994. We will review the experience with beta-Thalassemia accumulated through this institution. Four hundred and twenty five patients, aged 2 to 68 years are followed up at the CCC. Sixty four percent have thalassemia major (TM) while 36% have thalassemia intermedia (TI). Lebanese patients with TM receive periodic packed red cell transfusions to maintain a pre-transfusional hemoglobin level of 10 gm/dl at all times and desferrioxamine is the standard iron chelator in use. Since 1994, 12 patients with TM have died from complications of their disease, with heart failure being responsible for the majority of deaths. The incidence of cardiac, endocrinologic, and infectious complications will be reviewed. Finally, both current and prospective preventive measures will be discussed, specifically educational campaigns and premarital screening. The effects of prevention are starting to show as the number of newly diagnosed disease is diminishing.
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PMID:Beta-thalassemia: the Lebanese experience. 1689 58

Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phosphorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diagnosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up.
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PMID:Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. 1897 85

Chronic blood transfusions are necessary for patients with hereditary anemia such as thalassemia, and for patients with myelodysplastic syndrome (MDS) who become anemic and transfusion-dependent. A common consequence of chronic transfusion is iron accumulation that can lead to organ damage. While there is general agreement regarding the value of iron chelation therapy to reduce the detrimental effects of iron overload in thalassemia major, the same is not true for MDS. The malignant nature of the disease and the relatively high cost of iron chelation therapy make cost-effectiveness an issue of great concern. Furthermore, the positive assessment of a drug's cost-effectiveness in one country does not necessarily justify its use in another country. More prospective studies are needed to identify the best iron chelator for patients with MDS as well as to identify those patients who will benefit most from iron chelation therapy.
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PMID:Iron chelation therapy for patients with myelodysplastic syndrome. 1981 80

The discovery of alpha-hemoglobin stabilizing protein (AHSP), a chaperone for free alpha-hemoglobin (alpha-Hb), has provided a satisfactory solution to the perplexing problem of balanced globin levels for Hb production in erythroid cells in the face of a two-fold excess of alpha-globin to beta-globin gene dosage. Unmatched alpha-Hb is unstable and precipitates onto membranes, where the released heme exerts oxidative damages resulting in ineffective erythropoiesis and hemolytic anemia, the underlying causes of pathology in the hereditary anemia of beta-thalassemia. The interaction of alpha-Hb with AHSP involves surfaces normally employed in binding to beta-Hb. However, a conformational change to the AHSP-bound alpha-Hb results in an oxidized heme, but in a pocket that is now less exposed to the outside environment, thereby protecting against both peroxide-induced heme loss and iron-induced redox reaction. Studies in both mice and humans indicate that reduction in AHSP can result in hematological pathology. Conversely, alpha-Hb variants that are compromised in their ability to bind with AHSP produce beta-thalassemia-like symptoms. Disease conditions like some forms of thalassemia that are directly associated with AHSP structural and/or functional defects can now be included within the category of chaperonopathies.
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PMID:Alpha-hemoglobin stabilizing protein: molecular function and clinical correlation. 2003 1


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