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 authors report about one case of left branchial arterial thrombosis in a 6-year-old child with thalassemia-sickle cell disease. In their opinion, although this hemoglobinopathy usually causes microthrombosis, its existence at the same time as that of the brachial thrombosis does not seem to be a coincidence. The actual origin of this disease remains to be found, as well as the role that thrombocytosis may play. The authors emphasize the relative rarity of thrombolytic arterial diseases in African Negroes and advise practitioners to recognize them, because their diagnosis, often established late in our climates, has severe consequences.
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PMID:[Acute thrombosis of the brachial artery and beta-thalassemia-sickle cell anemia]. 161 6

Enlarged spleen, fever, increased susceptibility to infections, and thrombocytosis, are manifestations of iron deficiency which are relatively specific of pediatric patients. Iron deficiency anemia is part of everyday pediatrics. Patients are referred to the hematologist in the following situations: 1) Therapy is ineffective for one of the following reasons: the hypochromic anemia is not caused by iron deficiency (hemoglobinopathies); iron is less efficiently used because of transferrin deficiency or infectious, inflammatory or cancerous disease; iron therapy is inadequate either because of insufficient dosage or of suboptimal duration. 2) A relapse occurs in spite of adequate therapy. Before investigating the digestive tract, abnormal hemostasis. Osler-Weber-Rendu syndrome and pulmonary hemosiderosis should be considered. 3) Iron deficiency anemia is less common in adolescents. This condition, known as chlorosis, results mainly from increased needs, unbalanced diet, and onset of menses. In some cases no explanation is found but iron therapy leads to recovery. 4) Difficult problems arise in patients with complex anemias: iron deficiency with folic acid or vitamin B12 deficiency; hyposideremia complicating one of the hemoglobinopathies.
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PMID:[Iron-deficiency anemia. Hematologist's viewpoint]. 629 49

A patient with sickle cell beta+-thalassemia had thrombocytosis and erythrocytosis due to a myeloproliferative disorder best classified as polycythemia vera. RBC counts were 6 to 8 million/cu mm and the red cell mass was 33 ml/kg. A higher red cell mass and an increased hematocrit value were prevented probably by factors related to the hemoglobinopathy, such as microcytosis and hemolysis. The diagnosis of polycythemia vera in patients with sickle cell disease may be difficult to document and the association of these disorders has not been previously reported. This patient's high red blood cell and platelet counts did not result in recurrent vasoocclusive crises.
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PMID:Sickle cell thalassemia, thrombocytosis, and erythrocytosis. 722 49

Therapeutic erythrocytapheresis (TEA) has been used in different diseases such as polycythemia vera (PV), secondary erythrocytosis or hemochromatosis as a process of the less cumbersome but more expensive phlebotomy. TEA is preferred in emergency conditions such as thrombocytosis or in conditions such as porphyria cutanea tarda (PCT) or erythropoietic porphyria when plasma exchange (PEX) is often combined with TEA to reduce extracellular levels of uroporphyrin which contribute to plasma hyperviscosity. TEA is often combined with drug therapy that varies from etoposide in PV to EPO and desferoxamine which are used to mobilize and reduce iron stores in hemochromatosis. Benefits from this combination may be more long lasting than expected. Nonetheless for TEA, there is no standard protocol and, clinical experience with this therapy remains highly anecdotal. Therapeutic red cell-exchange (TREX) has been used with much interest over the years, starting with the management of hemolytic disease of the newborn and later used to correct severe anemia in thalassemia patients thereby preventing iron overload. It has also been used for the management of complications of sickle cell disease such as priapism, chest syndrome, stroke, retinal, bone, splenic and hepatic infarction or in preparation for surgery by reducing HbS to less than 30%. Automated apheresis has also favored the use of TREX in conditions such as paroxysmal nocturnal hemoglobinuria and aniline poisoning, arsenic poisoning, Na chlorate intoxications and CO intoxications, hemoglobinopathies, autoimmune hemolytic anemia, reactions due to ABO incompatibility, in preparation for ABO incompatible bone marrow transplantation or for preventing anti-D immunization after the transfusion of D(+) cells to D(-) recipients. Another field of application has been in the emergency management of intraerythrocytic parasite infections such as malaria and babesiosis. Application of TREX may be wide but its real use remains limited. In our personal experience, in 16 years, only 167 TREX procedures have been carried out in a total of 13,747 therapeutic procedures. This represents only 1.21% of the total.
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PMID:Clinical application of therapeutic erythrocytapheresis (TEA). 1083 21

Hemoglobinopathies are an important inherited disorder with a high prevalence in Thailand. Of several hemoglobinopathies, hemoglobin E (Hb) disorder (beta 26, GAG-AAG, Glu-Lys) is the most common. Coagulation disorders in these patients have also been proposed. Even though thrombotic risks in the patients with hemoglobin disorders from standpoints of platelet dysfunction and coagulation factors are controversial, they are in favor of thrombosis due to thrombocytosis. A study was performed in 57 healthy subjects to evaluate platelet count and platelet parameters in hemoglobin E carriers compared to values in healthy subjects. Classified by standard hemoglobin electrophoresis, there were 46 healthy subjects and 11 hemoglobin E carriers. There are no significant differences in platelet count and platelet parameters between the two groups (p > 0.05). Although there are reports that indicate the change in the quality of platelet in hemoglobin E disorders, no quantitative disorder was detected. There was no trend toward increased platelet count in the HbE carriers.
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PMID:Platelet count and platelet parameters in hemoglobin E carriers. 1524 88