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 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

We compared routine coagulation markers in six sickle cell trait carriers ((SCT, or AS hemoglobinopathy)--the heterozygous form of sickle cell anemia) and six subjects with normal hemoglobin before and after a prolonged and intense exercise. Blood was sampled at rest and at the end of the entire exercise test to measure coagulation markers (prothrombin time, activated partial thromboplastin time, plasma fibrinogen and antithrombin III activity), hematocrit (Hct) and yield stress (tau(y)). Results obtained at the end of exercise were corrected by the percent change in plasma volume. Blood coagulation markers, Hct and tau(y) were not different between the two groups at rest. Exercise did not change prothrombin time, antithrombin III activity and plasma fibrinogen, decreased activated partial thromboplastin time and increased Hct and tau(y) in the two groups. These parameters were not significantly different between the two groups at the end of exercise, except for plasma fibrinogen which was slightly higher in SCT carriers but in the normal range values. The results have been discussed in relation with some cases of exercise-related sudden death in SCT carriers, reported in several studies. Therefore our results show that the increased risk for clinical complications in certain SCT carriers during exercise seems to be unrelated to higher blood coagulation activity.
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PMID:Effects of strenuous exercise on blood coagulation activity in sickle cell trait carriers. 1809 54