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

Sickle hemoglobinopathies include sickle cell disease, sickle-C disease, and sickle-beta thalassemia. Patients with these disorders commonly suffer a multitude of destructive events to vital organs, especially to the central nervous system, the spleen, the kidney, the lung, and the heart as a result of microvascular plugging by the sickled erythrocytes. Thoughtful preparation for anesthesia and operation, especially when directed by experienced individuals, can greatly reduce the hazard of inducing the sickle crises that formerly plagued individuals with sickle hemoglobinopathies who faced major operations under general anesthesia. The patient must be free of any acute illness, especially one involving the respiratory system. Adequate hydration preoperatively combined with avoiding perioperative hypoxia, hypothermia, and acidosis, the triggers for sickling, will go far toward avoiding sickle-induced complications. Modern transfusion therapy, consisting of multiple small transfusions of Hb A erythrocytes administered over several weeks prior to the operation, not only corrects the chronic anemia but suppresses erythropoiesis of cells containing Hb S in the patient's bone marrow and leaves him or her with a majority of cells containing Hb A. This provides a safety net in case a sickle-inducing insult occurs despite the best efforts to avoid one. Individuals with sickle hemoglobinopathies may require any of the operations common to all children, for example, herniorrhaphy, appendectomy, tonsillectomy, and circumcision, but a significant number will develop calcium bilirubinate cholelithiasis and possibly cholecystitis as a result of the continual increased load of bile salts resulting from the shortened lifespan of the cells containing Hb S. Also, although most individuals with Hb S will gradually suffer splenic infarction by late childhood, a significant number of infants will experience acute splenic sequestration crisis, a life-threatening entity, the recurrence of which is prevented by splenectomy. Several publications have demonstrated that such surgical procedures can be performed in large numbers of patients with sickle hemoglobinopathies without deaths and with minimal morbidity.
 ...
PMID:Surgical management of children with hemoglobinopathies. 144 Jan 54

While acute splenic sequestration and splenic infarction are commonly observed in infants and young children with sickle cell anemia, they are rarely experienced by adult hemoglobin S homozygotes because the recurrent splenic infarction that takes place during childhood is typically followed by scarring, atrophy, and splenic fibrosis. Both acute splenic sequestration and splenic infarction do remain relatively common in adults with the other sickle hemoglobinopathies. These episodes are almost certainly a consequence of the persistently enlarged and distensible spleens that often remain present in these conditions. In this report, the authors describe two adult patients with hemoglobin SC disease: one who developed acute splenic sequestration and one with splenic infarction. In neither case was there a history of recent air travel or exposure to altitude. The clinical course of these two syndromes is presented, and the hematologic, radiologic, and pathologic manifestations are discussed. Because they can sometimes be difficult to distinguish from one another, and because a failure to identify acute splenic sequestration can be catastrophic, these two entities must be included in the differential diagnosis for any hemoglobin SC patient who present with an unexplained fall in hemoglobin, left upper quadrant pain, unexplained fever, or symptomatic splenomegaly.
 ...
PMID:Case report: splenic infarction and acute splenic sequestration in adults with hemoglobin SC disease. 177 23

Splenic atrophy or evidence of hyposplenism occurs in as many as one third of all patients with S-C hemoglobinopathy. Yet there are few reports in the literature of clinically apparent splenic infarction in this disease. We describe four instances of acute splenic infarction in three patients with hemoglobin S-C disease which illustrate a wide spectrum of clinical manifestations and severity. Of particular interest were the observations of coincident occurrences of splenic sequestration and functional hyposplenism with splenic infarction, suggesting a close pathophysiological relationship among these syndromes.
 ...
PMID:Splenic infarction, splenic sequestration, and functional hyposplenism in hemoglobin S-C disease. 397 42

Surgical therapy of the acute abdomen often allows only limited time for differential diagnosis to confirm the indication for surgery. Under consideration of clinical aspects and case history both common and rare causes of an acute abdomen should be investigated without undue loss of time. Differential diagnostic considerations and eventual therapy are presented in the following case of a 25-year-old Afro-american who developed multiorgan failure after an initial course of lower-back pain. In addition to the clinical setting of an acute abdomen the patient presented with acute respiratory failure and laboratory signs of severe hemolysis in combination with newly detected splenomegaly. The indication for splenectomy was made following CT-proven complete splenic infarction due to repeated acute squestration. Histologic examination of the spleen together with hemoglobin electrophoresis confirmed the clinical assumption of unusually late primary manifestation of a sickle cell crisis. In the underlying case, the hemoglobinopathy was in fact the less common form of combined sickle-cell-beta-thalassemia. A ten-day course of intensive care therapy was necessary to treat ongoing multiorgan failure due to persistent sickle cell crisis. Current diagnostic and therapeutic procedures in connection with sickle cell crisis as a rare cause of an acute abdomen with the necessity for surgical intervention are presented.
 ...
PMID:[Differential diagnosis and therapy of acute abdomen in sickle cell crisis. A rare case in visceral surgery]. 1074 38

Hemoglobinopathy S, Depranocytosis or Sickle Cell Disease is the most common hemoglobinopathy in the world. In its heterozygous form (Sickle Cell Trait), it affects 8% of the black population in the U.S. and 25% of the black population in Africa, and is found less frequently in the Mediterranean area, India, Middle East and Latin America. The basic alteration is a substitution of glutamic acid by valin in the sixth position of the beta globin chain, which causes polymerization at low oxygen tension thereby distorting the structure of erythrocytes and increasing blood viscosity, which, in turn, generates obstructions of the capillary arterial blood flow to different areas of the body thus causing microinfarctions. Although Splenic Infarction is rare, it is recognized as a serious complication of Heterozygous Sickle Cell Disease (Sickle Cell Trait). We present the case of a 21 year-old mestizo male patient who came in with an acute case of abdominal pain after arriving to work in the Casapalca mining city (located in the Peruvian Andes at 4200 m.a.s.l.) and was referred to our Hospital in Lima for exams. We present the case because it is an unusual cause of acute abdominal pain, and because this condition is rare in Peru and there are few publications about it.
 ...
PMID:[Acute abdominal pain due to splenic infarction in a patient with heterozygous sickle cell disease exposed to high altitude]. 1721 89

beta-Thalassemia major and sickle cell disease (SCD) are among the most common hereditary disorders worldwide. The supportive treatment of beta-thalassemia major requires chronic, life-long RBC transfusions, which cause progressive iron overload and the potential for impaired endocrine, cardiac and hepatic function. The phenotype of thalassemia major is reliably predicted by its genotype. In contrast, SCD is a variable genetic disease caused by a single amino acid substitution in the beta chain of human hemoglobin. Manifestations of SCD are quite varied, but generally result from the tendency of Hb S to irreversibly polymerize under physiologic stressors such as hypoxemia and acidosis. The polymerization causes perturbations in the erythrocyte integrity that promote vaso-occlusion and which manifest as clinical events such as severe painful episodes, acute chest syndrome, splenic infarction, stroke and avascular necrosis of target joints. The only cure proved for these disorders is correction of the genetic defect by allogeneic hematopoietic cell transplantation (HCT). We illustrate the pediatric experience of HCT for hemoglobinopathies and discuss how these results affect future therapeutic decisions in children who inherit these disorders.
 ...
PMID:Hematopoietic cell transplantation for thalassemia and sickle cell disease: past, present and future. 1805 30

There are contradictory reports about the effects of obstructive sleep apnea (OSA) on clinical vaso-occlusive events in sickle hemoglobinopathies. The discourse has focused on the possible effects of OSA-associated hypoxemia on hemoglobin S (HbS) polymerization. Advances in understanding the pathogenesis of sickle vaso-occlusion and the physiologic consequences of OSA suggest that the potential for interaction exceeds simple hypoxemia. HbS polymerization, red cell-endothelial cell interactions, hypercoagulability, neutrophil activation and vasoactive factors constitute the multi-pathway model of sickle cell vaso-occlusion. These processes are abnormal in OSA and theoretically these abnormalities may initiate or potentiate vaso-occlusion. If this hypothesis is correct, OSA may convert the clinically benign genetic carrier state of sickle cell trait to a clinically overt disease. Reported clinical events in sickle cell trait are usually related to exposure to relative hypoxia, and are limited to the spleen and renal medulla. Studies to compare the prevalence of events (splenic infarction and hematuria) in sickle cell trait with and without OSA, as well as their relationship to exposure to environmental hypoxia will be a first step in verifying this hypothesis.
 ...
PMID:Pathophysiologic considerations for the interactions between obstructive sleep apnea and sickle hemoglobinopathies. 1913 28

This article highlights the exertional-sickling collapse syndrome in athletes with sickle cell trait (SCT). It covers all aspects of this syndrome, including pathophysiology, new research on microcirculatory changes, clinical features, differential diagnosis, prevention, and treatment. Also covered in this article are other clinical concerns for athletes with SCT, including lumbar myonecrosis, splenic infarction, hematuria, hyposthenuria, and venous thromboembolism. The final section offers practical points on athletes with sickling hemoglobinopathies more serious than SCT.
 ...
PMID:Sickle cell considerations in athletes. 2165 47

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.
 ...
PMID:Splenic complications of sickle cell anemia and the role of splenectomy. 2208 6

Splenic abscess is an uncommon but potentially life-threatening disease that generally occurs in patients with neoplasia, immunodeficiency, hemoglobinopathies, trauma, metastatic infection, splenic infarction and diabetes. Splenic abscess should be considered in a patient with fever, left upper abdominal pain, and leukocytosis. Splenectomy has been the gold standard treatment for splenic abscess, however, burdened by high morbidity rate related clinical conditions of the patient. With the recent development of minimally invasive techniques and percutaneous US- or CT-guided procedures, the placement of a drainage has achieved excellent results with resolution of the disease in a high percentage of cases with low morbidity and negligible mortality. Percutaneous drainage is indicated for uniloculated or biloculated abscesses and for high risk surgical patients. It is a reliable technique with a high rate of therapeutical success and low costs compared to surgery. Other advantages include avoiding risks of intra-abdominal spillage and perioperative complications and saving time, along with a better patient compliance and an easier nursing care. The authors describe a case of splenic abscess treated by percutaneous US-guided drainage. Our results suggest that ultrasound-guided percutaneous drainage is a safe and feasible alternative to surgery in the treatment of splenic abscesses. In addition, it allows spleen preservation.
 ...
PMID:The role of percutaneous US-guided drainage in the treatment of splenic abscess. Case report and review of the literature. 2261 37


1 2 Next >>