Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

We report the cases of 38 children with transfusion-associated HIV infection: 18 hemophiliacs and 2 patients with Von Willebrand disease, 6 with hemoglobinopathies, 8 with malignant diseases or aplastic anemia, 2 transfused during neonatal period and 2 during a surgical operation. Two groups with a different prognosis were found: In group A [hemophilia and Von Willebrand disease (n = 20)] 17 patients were asymptomatic or only with lymphadenopathy; 3 reached stage IV and none died. In group B [Others (n = 14)] 2 patients were asymptomatic, 4 reached stage IV and 8 died, 4 of them directly from AIDS. The difference between both groups was statistically significant. Prognosis of HIV infection is particularly severe in patients with leukemia, malignant tumors and aplastic anemia.
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PMID:[Infection by the HIV virus and transfusions. Study of 38 pediatric cases]. 259 49

An immunologic and virologic work-up was undertaken in 425 symptom-free multitransfused patients with hemophilias or hemoglobinopathies living in France. Patients were entered into five groups according to the type of blood product they received: local factor VIII, a mixture of local and imported factor VIII, imported factor IX, local factor IX, washed red blood cells. The overall prevalence of IgG antibodies to the lymphadenopathy-associated virus (LAV) was 45%. The highest rate was observed in hemophiliacs who received factor VIII concentrates prepared from plasma collected mainly on the American continent; intermediary values were found for hemophilic patients treated with local factor VIII or factor IX concentrates; and the lowest values were found for those who were treated with washed red blood cells. Lymphadenopathy, decreased skin hypersensitivity reactions, relative lymphopenia, and altered ratio of T lymphocyte subsets occurred at significantly higher rates in patients positive for LAV antibody, although such abnormalities were also encountered in LAV serologically negative patients. A correlation between treatment intensity and immunologic disturbances was found in patients infused with factor VIII preparations, irrespective of their positive or negative LAV antibody status. This study has shown the prominent role of LAV in the occurrence of immunologic disturbances in multitransfused patients. However, allogenic or altered proteins present in factor VIII but not in factor IX concentrates seem to play a role of immunocompromising agents. The interplay between LAV and additional factors possibly leading to acquired immunodeficiency syndrome remains to be analyzed.
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PMID:Immunologic and virologic status of multitransfused patients: role of type and origin of blood products. By the AIDS-Hemophilia French Study Group. 299 80

Although sarcoidosis has occasionally been associated with hemoglobinopathies, its association with dermatomyositis is extremely rare. A 24 y/o African American male with hemoglobin SC disease developed proximal weakness. He had heliotrope rash, muscle weakness, elevated serum CK, myositis by EMG, and no malignancy. A muscle biopsy confirmed dermatomyositis. Two years later, he was hospitalized with constitutional and respiratory symptoms and parotid enlargement. Chest X-ray and CT scan showed diffuse micronodular infiltration in both lungs and mediastinal lymphadenopathy. A transbronchial lung biopsy revealed non-caseating granulomata consistent with sarcoidosis. AFB and fungal stains and cultures were negative. Thus, in this case, sarcoidosis developed after or in association with dermatomyositis. A review of world's literature showed five other non-identical cases of dermatomyositis associated with sarcoidosis.
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PMID:Sarcoidosis and dermatomyositis in a patient with hemoglobin SC. A case report and literature review. 1095 67

Sickle cell disease (SCD) is a well known hemoglobinopathy with usual manifestations including anemia, hyperbilirubinemia, and vasoocclusive complications. Despite presence of mild splenomegaly in early phase of the disease, lymphadenopathy is not an often finding of SCD. We introduce an undiagnosed case of SCD who presented in third decade of his life with multiple cervical lymphadenopathies and mild splenomegaly persistent for about five years. Histopathologic examination of the resected lymph nodes showed expansion of the mantle cell layers of secondary follicles as well as several monomorphic mantle cell nodules. To rule out possibility of a malignant process involving lymph nodes, an immunohistochemical panel was ordered which was in favor of benign mantle cell hyperplasia. Immunoglobulin gene rearrangement study showed no clonal bands and confirmed benign nature of the process. Respecting mild abnormalities on Complete Blood Count, peripheral blood smear was reviewed revealing some typical sickle red blood cells as well as rare nucleated red blood cells. Solubility test for hemoglobin (HB) S was positive. Hemoglobin electrophoresis confirmed diagnosis of homozygous HbS disease.
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PMID:Mantle Cell Hyperplasia of Peripheral Lymph Nodes as Initial Manifestation of Sickle Cell Disease. 2787 69