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

We have described a a 23-year-old black woman with sickle cell beta-thalassemia who had a urinary tract infection and who was incidentally found to be pancytopenic. Although her anemia was categorized as "normocytic, normochromic" by an electronic particle counter, evaluation of the pancytopenia confirmed unsuspected pernicious anemia. Greater vigilance and a higher index of suspicion are crucial for early diagnosis of pernicious anemia in patients with other known hemoglobinopathies.
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PMID:Pancytopenia caused by unsuspected pernicious anemia complicating sickle cell beta-thalassemia. 173 95

In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling, can support prevention and control programs for thalassemia.
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PMID:Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies. 194 58

Infection is a major complication and the leading cause of death in thalassemia, especially E-beta thalassemia. The spectrum of infections in E-beta thalassemia include mild and severe infections, therapy-related infections such as Yersinia enterocolitica infection associated with desferrioxamine (DFO) therapy, and transfusion-transmitted disease, as well as unique infections such as with pythiosis. Prospective studies in Thailand indicate that patients with E-beta thalassemia had more frequent episodes of both mild and severe infections. The former included upper respiratory tract infection, acute gastroenteritis, cutaneous abscess, and gingivitis. Severe infections occurred more commonly in patients with splenectomy and included septicemia, pneumonia, biliary tract infection, salmonellosis, and urinary tract infection. Responsible organisms were Escherichia coli (26%), Klebsiella pneumoniae (23%), Salmonella (15%), and Streptococcus pneumoniae (13%). Other organisms included Pseudomonas, Staphylococci, Burkholderia pseudomallei (melioidosis), and Aeromonas. Patients undergoing DFO therapy are at risk for Y. enterocolitica infection which may be localized to mesenteric nodes and tonsils or occur as a generalized form such as septicemia. Recently, we have seen a unique infection so-called vascular pythiosis. Patients usually presented with clinical features of vascular occlusion of lower limbs from ascending arteritis and thrombosis. The causative organism, Pythium insidiosum, is fungus-like, in the kingdom Stramenopila, and in the class Oomycetes. The mortality rate is high and the only effective treatment has been early amputation or possibly immunotherapy. The predisposing factors of infections in thalassemia include splenectomy, iron overload, anemia, and granulocyte dysfunctions. General management of infections in thalassemia consist of prevention, i.e., immunization with pneumococcal and hepatitis vaccines, oral penicillins especially in patients with splenectomy, removal of predisposing factors such as gallstones, iron overload, and appropriate antibiotics.
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PMID:Infections in E-beta thalassemia. 1113 34

The microorganisms, outcome of infections and the risk factors were evaluated in 39 patients with beta-thalassemia who received frequent blood transfusions. Among these patients, thirteen developed 22 episodes of infections, and bacteremia accounted for 72.7% (16/22) of all infections. Three patients developed meningitis, two patients had liver abscesses, three patients had soft tissue infections, one patient had a urinary tract infection and one patient had lobar pneumonia. Interestingly, a large proportion of the patients were infected by Gram-negative bacteria. Patients who were implanted with intravascular catheters were most susceptible to bacterial infection (1.70 episodes/patient) (P = 0.0069). So were patients with ferritin levels over 2,000 ng/mL (1.18 episodes/patient) (P = 0.028). The frequency of bacterial infections in patients with splenectomies (1.08 episode/patient) was also significantly higher than that of the average patient (P = 0.025). In conclusion, three major risk factors for bacterial infection were identified in this group of patients: intravascular catheterization, high serum ferritin levels (> or = 2,000 ng/mL) and splenectomy. The infection rate of these patients (0.45 episode/100 patient-year) is about 20-fold higher than that of general pediatric patients (0.023 episode/100 patient-year).
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PMID:Bacterial infection in patients with transfusion-dependent beta-thalassemia in central Taiwan. 1119 38

With the introduction of screening programmes for haemoglobinopathies (HbP), more women will be aware of their HbP status. The genetic risk for women who are carriers of HbP is well known. However, midwives and obstetricians need to know whether there are other risks involved in the pregnancies of women who are carriers of HbP. The objective of this study was to investigate the hypothesis that being a carrier of HbP has no consequences for the health of pregnant women and the outcome of their pregnancies. A systematic search was carried out until August 2008 in the Cochrane Library, Medline, EMBASE and CINAHL databases. All references were inspected to identify further studies. The authors of key publications were contacted for any unpublished research. Selection of studies was made on the basis of the following criteria: Cohort and case-control studies, pregnant women with a singleton pregnancy, exposure: HbAS or thalassaemia minor and the following outcomes: urinary tract infection (UTI), anaemia, (pre-)eclampsia, gestational diabetes, premature labour, low birth weight, intrauterine growth retardation, miscarriage, neonatal death, low Apgar score, neural tube defects. Quality assessment and data extraction were carried out by two researchers. A total of 780 subjects were identified of which nine were included in the study. A protective effect of sickle cell trait was found for premature birth, low Apgar score and perinatal mortality rate. No significant effect was found for low birth weight, growth retardation, UTI or high blood pressure. The risk of anaemia and bacteriuria was increased. In conclusion, the risks amongst pregnant HbP carriers are low. Midwives and obstetricians need to be aware of the risk of anaemia and UTI.
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PMID:Maternal and perinatal outcomes amongst haemoglobinopathy carriers: a systematic review. 2094 75