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)

Sickle cell disease displays a unique progression in the Eastern province of Saudi Arabia, where splenomegaly with hypersplenism is noted with high frequency in the adolescent and adult patients. The late persistence of splenomegaly although likely reflects the milder progression of sickle cell disease in this region; nevertheless, it predisposes the patients to increased morbidity. The present study documents the characteristic clinicopathological features of splenomegaly associated with sickle cell disease in the Al-Hassa region of Eastern province Saudi Arabia. Forty-four cases of sickle cell disease patients in whom splenectomy was performed during 1999-2003 were studied. The hemoglobinopathy profiles of the patients (age range 5-42 years) comprised sickle cell anemia (8 cases), sickle cell anemia with high fetal hemoglobin (23 cases), and sickle cell-beta degrees thalassemia (13 cases). All patients had manifestations of hypersplenism and 39 patients experienced episodes of minor-type sequestration crisis. Splenectomy was effective in ameliorating the hematological abnormalities in all cases, without any major complications in the follow-up period. The splenectomy specimens showed moderate-to-marked enlargement in most cases, with histological features of fibrocongestive splenomegaly and prominent Gandy-gamma body formations. Micro-infarcts in 27 cases and gross infarctions in 9 cases were evident. The relationship of persistent splenomegaly with higher fetal hemoglobin levels and splenic hypofunction is examined along with the significance of splenectomy in these cases.
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PMID:Fibrocongestive splenomegaly in sickle cell disease: a distinct clinicopathological entity in the Eastern province of Saudi Arabia. 1598 Dec 25

Sickle cell disease is one of the common hemoglobinopathies in the world. It can affect any part of the body and one of the most common and an early organ to be affected in SCA is the spleen. It is commonly enlarged during the first decade of life but then undergoes progressive atrophy leading to autosplenectomy. This however is not the case always and sometimes splenomegaly persist necessitating splenectomy for a variety of reasons including acute splenic sequestration crisis, hypersplenism, massive splenic infarction and splenic abscess. Splenic complications of SCA are known to be associated with an increased morbidity and in some it may lead to mortality. To obviate this, splenectomy becomes an essential part of their management. This review is based on our experience in the management of 173 children with various splenic complications of SCA necessitating splenectomy.
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PMID:Splenic complications of sickle cell anemia and the role of splenectomy. 2208 6

Splenectomy is therapeutic for a large host of conditions. It is a consequence of expanding the list of disorders and liberalizing the indications for splenectomy in many diseases. Red blood cells disorders: autoimmune hemolytic anemia, hereditary spherocytosis, hemoglobinopathies and thalassemia are prone to splenectomy after failure of medical therapy. A variety of thrombocytopenic disorders are improved by splenectomy, and the most common indication for splenectomy is ITP (idiopathic thrombocytopenic purpura). Splenectomy is successful in reversing hypersplenism in a spectrum of disease called myeloproliferative disorders. Relief of symptoms from splenomegaly is also achieved, but it does not affect the inexorable course of the disorder. The role of splenectomy in white blood cells disorders (leukemias and lymphomas) is only palliative and facilitates chemotherapy. Splenectomy in patients with hemathologic disorders imparts a risk of fulminant and life threatening infection "overwhelming postsplenectomy sepsis" that can be obviated by appropriate treatment. Although splenectomy for hemathologic disorders is only therapeutic and not curative, the relief of symptoms and for some disorders facilitation of chemotherapy leads to better quality of life and longer survival.
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PMID:Splenectomy for haematological disorders. 2479 4

Approximately 5-10% of patients with end-stage renal disease (ESRD) exhibit hyporesponsiveness to erythropoiesis-stimulating agents (ESAs), defined as a continued need for higher than 300 IU/kg/week doses of epoetin or a 1.5 mg/kg/week dose of darbepoetin. ESA hyporesponsiveness contributes to the morbidity, mortality and health-care economic burden of ESRD patients. The most common causes of ESA resistance are absolute or functional iron deficiency and inflammation. Maintaining adequate iron stores is clearly accepted as the most important strategy for reducing the ESA requirement and for enhancing ESA efficacy. Recent clinical studies have shown that iron administration to ESRD patients is associated with an increased risk of infection and atherosclerosis. ESA hyporesponsiveness due to chronic inflammation in ESRD patients has been reported to be improved by a number of interventions, including the use of biocompatible hemodialysis membranes, ultrapure dialysate, ascorbic acid therapy, vitamin E supplementation, and statin therapy. Other causes of ESA hyporesponsiveness include inadequate dialysis, hyperparathyroidism, angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, primary bone marrow disorders, myelosuppressive agents, hemoglobinopathies, hemolysis, and hypersplenism. This article summarizes the common causes of ESA hyporesponsiveness and the proposed therapeutic interventions.
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PMID:Erythropoiesis-stimulating agent hyporesponsiveness in end-stage renal disease patients. 2602 17