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

The effect of polytransfusion regimen is studied in two patients with thalassaemia major over a period of 74 and 56 months respectively. In both cases we have observed an improvement of the general condition in the growth as well as a reduction of hepatosplenomegaly and cardiomegaly. Furthermore a decrease of reticulocytes, erythroblasts and fetal hemoglobin values was obtained. The consequences of these frequent transfusions on iron storage metabolism are discussed. The advantage of giving HLA compatible blood is demonstrated by only a weal alloimmunization in one patient having received 77 HLA compatible transfusions and the lack of immunization in the second patient after 52 transfusions. In 6 other patients affected with thalassaemia major and 3 more with bone marrow aplasia, transfusion with incompatible HLA blood was followed by immunization of variable importance.
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PMID:Multiple transfusions of HLA compatible blood in thalassaemia major. 63 9

Hepatosplenomegaly accompanied with different intestinal troubles is more or less a marked clinical manifestations in children. The histopathological and histochemical changes were studied in biopsied materials taken from the sigmoidal and rectal tissues of 49 children. These children had schistosomiasis mansoni (26), schistosomiasis and amoebiasis (4), schistosomiasis and tuberculosis (TB.) (2), amoebiasis (4), thalassemia (6), acute myeloid leukaemia (AML) (1), mucopolysaccharidosis (1) and bacillary dysentery (5). The pathological changes were erosion ulceration hyperplasia, atrophy, crypt-abscess and fibrosis (mucosa) and oedema, congestion, cellular infiltration (Lamina propria). The chemical changes were the mucin secretion, deposition of collagen and fibrin and activity of the argentaffin cells. Not all the disease agent had the same effect, but changes were marked mainly in children with S. mansoni and/or E. histolytica.
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PMID:Histopathological and histochemical studies on the sigmoidal and rectal tissues of hepatosplenic children with gastro-intestinal troubles. 143 Dec 83

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

The "eradication of malaria" in Taiwan was announced by WHO in 1965. From 1966 to 1989, 919 malaria cases were detected in Taiwan. Of these cases, 803 were classified as imported malaria. During 1977 to 1989, our hospital collected 11 cases of imported malaria, 6 of Plasmodium falciparum (PF), including 1 suspicious case, 2 of Plasmodium vivax (PV), 1 of mixed infection (PF plus PV), and 2 unclassified. Most of the patients presented clinically with fever and chills. Hepatosplenomegaly was the most common abnormal finding during the physical examination. Jaundice and anemia occurred in the more severe cases. No cases had lymphadenopathy which is helpful in making a differential diagnosis. Six cases had thrombocytopenia which may be considered as an indirect sign in the diagnosis. The MCV levels were within normal limits in all of the cases. This may indirectly imply a potential protective effect against malaria infection in cases of congenital hemoglobinopathy such as thalassemia or G6PD deficiency. Initially, 10 cases were given "standard treatment", which consisted of chloroquine 450 mg qd for 2 days then 300 mg qd for 2 days and primaquine 15 mg qd for 2 weeks. Four cases of chloroquine resistance were encountered, all in cases with PF infection. Two cases were grade I delayed type resistance and were successfully treated with Fansidar, tetracycline and quinine. Two cases were grade II resistance and presented clinically as cerebral malaria. Intravenous quinine was given plus Fansidar and tetracycline. The cases were resolved without sequele or recurrence. None of the cases, except for 2, received chemoprophylaxis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Imported case of malaria in Taiwan: analysis of 11 cases]. 167 9

A study of the characteristics of childhood thalassemia was conducted at the Sub Department of Pediatric Hematology, Dr. Pirngadi Hospital from June 1979 to May 1989. There were 131 cases, consisting of 75 (57.25%) boys and 56 (42.75%) girls with an average of 12 admission every year. The predominant age group was 0-2 years, and the youngest was 3 months old. Javanese ethnic group appeared predominant in 36 (63.15%) cases. Clinical symptoms of anemia were found in 112 (85.49%), hepatomegaly in 91 (69.46%), hepatosplenomegaly in 84 (64.12%), without enlargement of organ in 17 (12.97%), and icterus in 6 (4.58%). Hb-Electrophoresis was done in 42 cases, revealing 26 (61.90%) with thalassemia major, 15 (35.71%) Hb E thalassemia, and 1 (2.20%) Hb H thalassemia. Hb value at the first admission in 65 (49.62%) was less than 5 g/dl, in 63 (48.09%) it was 5-10 g/dl and in 3 (2.29%) more than 10 g/dl.
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PMID:The pattern of thalassemia in children at the Department of Child Health, School of Medicine University of North Sumatera/Dr. Pirngadi Hospital, Medan. 178 Jan 65

The authors have identified six Southeast Asian patients ranging in age from 14 to 21 years with hemoglobin E-beta(0) thalassemia and a coagulopathy involving von Willebrand factor (vWF). These patients had normal or only slightly decreased plasma clotting factor levels. The activated partial thromboplastin time was prolonged in four of the patients. The abnormal feature common to all patients was a qualitative loss of high molecular weight multimers of vWF by crossed immunoelectrophoresis (vWF:CIE). Plasma vWF antigen concentration (vWF:Ag) and ristocetin cofactor activity (vWF:RCo) also were decreased and bleeding time prolonged in three patients. Epistaxis was present in two. No family history of increased bleeding tendency was present in any patient. Coagulation parameters and vWF:CIE were normal in two first-degree relatives without this hemoglobinopathy. vWF abnormalities and clinical manifestations were greatest in those patients with the most severe anemia and hepatosplenomegaly. These six patients appear to have an acquired abnormality of vWF, although they lack the clinical characteristics of acquired von Willebrand disease. While the etiology of this abnormality is unclear, the authors speculate that proteolysis of vWF secondary to extramedullary hematopoiesis or loss through high cardiac output shear stress in these anemic patients may be involved.
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PMID:Abnormality of von Willebrand factor in patients with hemoglobin E-beta (0) thalassemia. 210 77

There were altogether 68 patients suffered from beta-thalassemia in the Veterans General Hospital from 1979 to 1986. However only 18 patients had abnormal roentgenologic findings. They were 7 males and 11 females. Their ages ranged from 8 months to 47 years with an average of 13 years. Clinically beta-thalassemia was divided into 3 types: 1) thalassemia major, 2) thalassemia intermediate, 3) thalassemia minor. The osteoporosis, hepatosplenomegaly, and extramedullary hematopoiesis with pseudo-tumor formation. We concluded that the roentgenologic manifestation of the patient was more in patients with major or intermediate type.
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PMID:[The relationship of clinical severity and roentgenologic findings in beta thalassemia]. 227 71

Clinical, hematologic and hemoglobin composition data on the first case of Hb 0-Arab in association with beta 0-thalassemia in Yugoslavia are reported here. The propositus was a 26-years-old female from Strumica who was admitted to the hospital for several times because of anemia, hepatosplenomegaly, occasional abdominal pains, malaise and fatigue. Laboratory results presented: Hb 10.0 g/dl, RBC 3.84.10(12)/L, PCV 0.260 l/l, MCV 68 fl, MCH 26 pg, reticulocyte count 1.8%, anisopoikilocytosis, polychromasis, numerous target cells, total bilirubin 2.1 mg/dl, (indirect 1.7 mg/dl), serum-Fe 32.3 microM/L. A starch gel electrophoresis of hemolysate provided evidence for the presence of abnormal hemoglobin (approximately 85%) and Hb F (approximately 15%); the Hb A was absent. Familial screening showed her father was heterozygous for the abnormal hemoglobin, whereas the mother was heterozygous for beta-thalassemia. In vitro biosynthesis disclosed a total absence of beta globin and reduced synthesis of beta x x and gamma globin. The alpha/beta x + gamma-globin ratio was 1.77 (normal, 1.0 + 0.1). Amino acid analysis revealed that lysine substituted for glutamic acid at the position one hundred twenty-one of the beta chain (= Hb 0-Arab or beta 121 Glu----Lys).
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PMID:[Hemoglobin O Arab in interaction with beta 0-thalassemia]. 273 98

Different degrees of severity of anemia are presented in three siblings with homozygous beta-thalassemia. II-1, the most severely affected one, is splenectomized and needs frequent blood transfusion, while II-4 has mild anemia and never receives transfusion. II-3 has moderate anemia and mild jaundice and hepatosplenomegaly. Restriction endonuclease DNA mapping revealed the alpha-thalassemia-2 genes in II-3 and II-4 and no alpha-thalassemia-2 haplotype in II-1. Furthermore, II-4, who is mildly affected, is homozygous for alpha-thalassemia-2 whereas II-3 is an alpha-thalassemia-2 heterozygote. These observations indicate that concomitant inheritance of alpha-thalassemia can decrease the severity of beta-thalassemia.
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PMID:Different severity of homozygous beta-thalassemia among siblings. 359 99

Double heterozygosis condition for hemoglobin variants induce clinical syndromes known as intermediate thalassemias. Their diagnosis is often of certain difficulty because of their low frequency and heterogeneity of clinical expressions. We report a case of a 4 year child admitted to our medical center with a story of hepatosplenomegaly. An appropriate hematological study on patient's family permitted a diagnosis of double heterozygosis for Hb Lepore and beta-thalassemia. Results of hematological investigation are reported.
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PMID:[Hematologic characterization and analysis of genetic transmission in a case of double heterozygosity Hb Lepore/beta-thalassemia]. 383 15


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