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

Quantitative glycogen determinations can be made in single blood and bone marrow cells, using microspectrophotometry or microfluorometry after staining with variants of the periodic acid--Schiff (PAS) reaction. These PAS variant reactions generally do not indicate the presence of non-glycogen PAS-positive substances, known to be prevalent in various hematopoietic cells, possibly due to masking of reactive groups. The specificity of the reaction in blood cells was ascertained by alpha-amylase digestion, which removed more than 95% of the PAS-positive material. Calibration of the PAS reaction was undertaken with a microdroplet model of pure leukocyte glycogen. The glycogen amounts in the droplets were determined by microinterferometry, the droplets were stained with a variant PAS reaction, and the total extinction of the reaction product in the stained droplets was determined by microspectrophotometry. The extinction coefficient (k) was obtained from the equation k equals Etot divided by M where (Etot) is the total extinction as determined by microspectrophotometry and (M) the dry glycogen amount as determined by microinterferometry. The microinterferometric dry mass determinations were calibrated by X-ray absorption in order to obtain the absolute amounts of glycogen. For practical purposes a reference system was made of normal neutrophil leukocytes. The glycogen content in the reference neutrophils was first determined with the micromodel. These neutrophils, now with a known glycogen amount, were stained with the PAS reagents and measured microspectrophotometrically in parallel with cells containing an unknown glycogen amount. Alternatively, the staining was made with a fluorescent PAS reaction, and the glycogen content determined by microfluorometry. Both methods appeared suitable for determining the glycogen content of blood cells from patients with various diseases, though the microfluorometric method was preferable for measurements of small amounts of inhomogeneously distributed glycogen. The mean glycogen content of normal neutrophil leukocytes was found to be 13.6 times 10(-12) g. The content was increased in infectious diseases such as pneumonia and tonisillitis, as well as in polycythemia vera and myelofibrosis, while low amounts were found in untreated chronic myelocytic leukemia. In chronic myelocytic leukemia in remission, the glycogen content of mature neutrophils had completely normalized. Erythroblasts normally do not contain detectable amounts of glycogen. However, in certain diseases such as beta-thalassemia and Di Guglielomo's syndrome, appreciable amounts of glycogen accumulate in the erythropoietic precursor cells. In beta-thalassemia this was associated with an arrest in the proliferation of early polychromatic erythroblasts, which accumulate glycogen in the G1 phase of the cell cycle. In all these diseases quantitative glycogen determinations in the blood cells have diagnostic importance.
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PMID:Quantitative cytochemistry of glycogen in blood cells. Methods and clinical application. 107 52

HIV is efficiently transmitted through transfusion with HIV-infected blood. Accordingly, 203 multitransfused children with thalassemia attending the thalassemia clinic of the Charak Palika Hospital in New Delhi were screened for antibodies to HIV using ELISA and Western blot tests. 8.37% of the sample tested HIV-seropositive (HIV+). These 17 children were joined by 3 others referred from a neighboring state to constitute a group to be matched against 20 HIV-children for the purpose of comparing psychosocial aspects. The control group was matched for age, sex, educational level, and socioeconomic status with mean age 10.8 years ranging over 1-16 years. 4 members of the HIV+ sample were diagnoses as having clinical AIDS according to WHO criteria. The remaining 14 boys and 2 girls were HIV+, but asymptomatic. 25% were of lower class, 63.5% middle class, and 12.5% upper class. Of those with AIDS, 50% were diagnosed in their first year of life and 82% were diagnosed by year 3. Symptoms generally developed after 4-6 months of life. Lymphadenopathy and hepatomegaly tend to be visible at birth, while chronic diarrhea, prolonged fever, oral thrush, recurrent bacterial infections, and hepatosplenomegaly may also be presented. 7.1% of cases aged 2-3 years exhibited rocking and head banging problems worse than did control subjects. Furthermore, 28.5% had temper tantrums and 21.5% ground teeth. These children may have delayed developmental milestones as well as behavioral problems. The small sample size, however, precludes concluding that psychosocial differences exist between those with HIV/AIDS and those with thalassemia major. In fact, behavioral problems in these children were due to child illness and not of HIV-positivity, for children tend to be unaware of HIV/AIDS infections and its consequences. The author recommends that HIV+ children continue to attend school unless they can not control bodily secretions, have uncoverable oozing lesions, have unacceptable behaviors, or if there is extreme possibility of contracting infectious diseases at school. The author also stresses parents' and families' need for long-term medical and psychological care.
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PMID:Psycho-social aspects of HIV infection and AIDS in multiple transfused thalassemic children. 145 60

We report the clinical, hematological, and molecular findings observed in 32 Sicilian patients with sickle cell disease. None of our patients received regular blood transfusions and careful infectious disease prophylaxis was carried out for all. Haplotyping of beta S chromosomes was performed in all patients; all were homozygous for haplotype #19 (Benin). Gene mapping excluded the presence of an alpha-thalassemia in 13 of our patients; none of the relatives showed any evidence of the presence of alpha-thalassemia. Hb F levels were 11.8 +/- 5.9% with G gamma representing 39.6 +/- 3.6% of total gamma chain. Hb F levels were higher in females than in males (12.5 +/- 5.9% versus 9.7 +/- 6.5%) but the difference was not statistically significant. All patients, regardless of age and sex, were anemic with normal mean corpuscular hemoglobin concentration, high mean corpuscular volume and mean corpuscular hemoglobin, and mild reticulocytosis. Analysis of clinical manifestations suggests that our patients have a disease of moderate severity.
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PMID:Clinical, hematological, and molecular features in Sicilians with sickle cell disease. 148 18

A new technique is presented for funipuncture under ultrasound guidance using a biopsy guide and a 20/25-gauge needle combination. The 20-gauge needle was used for uterine entry and the 25-gauge needle for the actual cord puncture. The method was used for sampling fetal blood in 262 pregnancies with 264 fetuses (two sets of twins) between 17-39 weeks, at risk for beta-thalassemia, chromosomal disorders, TORCH infection, fetal hypoxia, and Rh-isoimmunization. Pure fetal blood was aspirated from 241 fetuses (91.3%), including the twins. The procedure lasted less than 5 minutes in 76.5% of the cases and less than 10 minutes in 90.1% of the cases. Intra-amniotic bleeding was seen in only 23.1% of the cases, and fetal bradycardia was not noted. Forty-four pregnancies were terminated after the diagnosis of genetic or infectious disease. Seven fetuses at risk for Rh-isoimmunization, found to be Rh-positive and anemic, were transfused immediately after blood sampling using the same needle. Of the 220 continuing pregnancies, there were 14 fetal losses (three before 28 weeks and 11 after 28 weeks or during the perinatal period). A probable etiology for the loss was found in 11 cases. These included one severely Rh-isoimmunized hydropic fetus who died in utero after transfusion at 26 weeks, one fetus who died in utero at 31 weeks following a car accident, and nine malformed newborns. The corrected rate for fetal losses probably related to the procedure was thus 0.9% before 28 weeks and 0.8% after 28 weeks. This new funipuncture technique seems to have several advantages over the freehand and/or biopsy-guided single-needle techniques.
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PMID:A new funipuncture technique: two-needle ultrasound- and needle biopsy-guided procedure. 264

Splenectomy was performed on 152 patients with thalassemia (thal), including 90 cases with Hb H disease, 48 cases with homozygous beta-thal, and 14 cases with Hb E-beta-thal. The therapeutic effect in Hb H disease was 83.3%, and 32.3% in Hb E-beta-thal and beta-thal. In Hb H disease, the hemoglobin (Hb) level increased 30 g/l in 14 of 29 cases. After splenectomy, the life-span (T1/2) of 51Cr RBC in Hb H and Hb E-beta-thal increased to 18.2 +/- 2.6 and 18.2 days, respectively. The number of inclusion (Heinz) bodies attached to the RBC membrane increased after surgery. The interdermal delayed supersensitivity reaction became negative in seven of 26 cases of Hb H disease; the IgG also decreased after surgery. The number of PAS positive foam cells in the spleen correlated to Hb level after surgery. Infection is a common complication.
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PMID:Treatment of the thalassemia syndrome with splenectomy. 320 2

To investigate the protective effects of beta-thalassemia against malaria, rodent malaria parasites were studied in C57BL/6J mice with beta-thalassemia, in mice in which the thalassemia had been transgenically corrected with the human beta A-globin gene, and in hematologically normal mice. In thalassemic mice, Plasmodium chabaudi adami infection was inhibited and peak parasitemia was variably delayed. In transgenically corrected mice, infection proceeded as in normal mice. Plasmodium berghei infection proceeded more rapidly in thalassemic mice, but survival was not different. Splenectomized normal mice displayed high-level parasitemia that peaked twice and persisted as a low-level parasitemia for more than 20 days after normal intact mice were free of all parasites. Splenectomized thalassemic mice showed a delay of 5 days in attaining peak parasitemia, but the parasitemia persisted as in normal splenectomized mice. Thus, for P. chabaudi, which displayed no preference for immature erythrocytes, beta-thalassemia offers enhanced resistance for the host. However, for P. berghei, which preferentially invades reticulocytes, thalassemia is not protective. The protective effects of the normal mouse spleen were observed, but the paradoxical facilitation of parasite growth by the thalassemic spleen is a new finding that will require further experimentation to explain. This new in vivo laboratory documentation of thalassemic protection against some rodent malaria parasites may serve as a useful model in further efforts to control this major infectious disease.
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PMID:Malaria in beta-thalassemic mice and the effects of the transgenic human beta-globin gene and splenectomy. 333 24

Genetic markers have recently been found to be much more polymorphic than expected. Such extensive human polymorphisms may be partly explained by a number of genetic and environmental factors, including infectious diseases. Malaria, which was very widespread in the past and still poses a problem in many countries today, is a good candidate for research. The association between malaria and glucose-6-phosphate dehydrogenase (G6PD) deficiency is well-known, but more should be done to determine the mechanisms responsible for this positive correlation and to confirm that malaria is a strong selective factor for many other genotypes also. The present paper refers to a WHO project on genetic markers and susceptibility to infectious diseases, which is concerned mainly with G6PD deficiency and the following genetic markers: haemoglobinopathies, including the beta-thalassaemia trait and ABO, Rh, MN, Duffy, secretory types (Ss), and human leukocyte antigens (HLA). Since malaria was eradicated in Bulgaria many years ago, human populations from this country, living at different altitudes above sea-level, were used as a model for analysis of the malaria hypothesis. The data for G6PD deficiency confirm that malaria was a selective factor in lowland areas where malaria infection was more frequent in the past. It is, moreover, apparent that in addition to malaria some other factors also play a selective role.
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PMID:Frequency of glucose-6-phosphate dehydrogenase deficiency in relation to altitude: a malaria hypothesis. 696 37

Although study of the thalassemias has focussed on possible cure or amelioration by genetic techniques, considerable progress has been made in understanding the underlying pathobiology of these diseases. Better control of childhood infectious diseases has led to a clearer understanding of the frequency and clinical severity of some of these disorders. The striking differences between alpha- and beta-thalassemia are now well documented and the role of oxidant attack in the pathobiology is becoming clearer. Some authors believe that severe beta-thalassemia induces a hypercoagulable state that could be partially caused by scrambling of the phospholipid bilayer of affected erythrocytes. There is growing appreciation that double heterozygosity for hemoglobin E/beta-thalassemia, while causing variable anemia, can produce a clinical condition as severe as Cooley's anemia (beta-thalassemia major). Anemia severity may be related to the extent of oxidant attack on the unstable hemoglobin E. Studies of the hemoglobin Constant Spring variants demonstrate the consequences of accumulating excess unmatched beta globin as well as the unique alpha CS. Studies on marrow erythroid precursors in the beta-thalassemias have already shown accelerated programmed cell death and abnormal assembly of membrane proteins. Such studies in the future will likely further delineate the underlying differences between alpha- and beta-thalassemias.
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PMID:Pathobiology of thalassemic erythrocytes. 910 22

The case of a young man affected by homozygous beta-thalassemia is reported who had serologic findings of a prior HBV infection and who presented with clinical and biochemical acute HBV infection probably caused by HBV reactivation after allogeneic bone marrow transplantation. The patient's clinical history suggests that HBV can persist without serological findings of HBsAg and HBV-DNA in persons previously infected by HBV and that HBV reactivation can occur 2 years after allogeneic bone marrow transplantation, as a result of immunosuppressive therapy or an HCV activation.
Infection
PMID:Clinical and biochemical reactivation of HBV infection in a thalassemic patient after bone marrow transplantation. 950 84

Thalassemias and the hemoglobinopathies such as Hemoglobins S, C and E, are now a global problem. They have spread through migration from their native areas in the Mediterranean, Africa and Asia and are now endemic throughout Europe, the Americas and Australia. Comprehensive control programs in recent years have succeeded in limiting the numbers of new births and prolonging life in affected individuals. Such programs have been successful in a minority of countries and have little global impact. Over 300,000 infants with major syndromes are born every year and the majority die undiagnosed, untreated or under-treated. Countries may be divided into three general categories according to the services available: A. Endemic Mediterranean countries. In these long-established prevention programs have succeeded in achieving 80%-100% prevention. Specialized clinics able to provide optimum treatment. B. Areas of the developed, industrialized world where prevalence is increasing because of migration. These countries have the means to provide adequate control but have problems in reaching immigrant groups with different cultural background. C. Countries of the developing world where the provision of services is hampered by economic difficulties, other health priorities due to high infant mortality from infectious diseases, and religious/cultural constraints.
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PMID:Global epidemiology of hemoglobin disorders. 966 47


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