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)

Nine of 35 patients with sickle hemoglobinopathies and cholelithiasis were found to have concomitant common bile duct (CBD) stones. We describe the diagnosis and management of these patients with CBD stones. Historical information, physical examination, and routine laboratory tests were unable to identify accurately the patients with CBD stones. Similarly, ultrasonography of the hepatobiliary system was an insensitive method for detecting CBD stones, as only 3 of 8 patients were correctly identified. In contrast, both an intraoperative cholangiogram and endoscopic retrograde cholangiopancreatography were sensitive procedures for detection of CBD stones. We conclude that CBD stones are relatively common in patients with sickle cell disease and cholelithiasis, and clinicians should have a high index of suspicion for their presence.
 ...
PMID:Diagnosis and management of common bile duct stones in patients with sickle hemoglobinopathies. 162 23

Interferon-gamma (IFN-gamma) has been shown to influence globin gene expression in cord blood and normal adult progenitor-derived erythroblasts. To explore the influence of IFN-gamma on fetal hemoglobin (HbF) synthesis in the hemoglobinopathies, erythroid progenitors (BFU-E, burst forming unit-erythroid) from patients with sickle cell anemia (SCA) and thalassemia were co-cultured with or without IFN-gamma. Hemoglobin content in progenitor-derived erythroblasts was assessed by radioligand assay (RIA). Co-culture of erythroid progenitors from 12 SCA patients with 200-400 U/ml of IFN-gamma resulted in a significant decrease in picograms of HbF and percent HbF per BFU-E-derived erythroblast. The mean decrease (+/- SEM) of picograms of HbF per cell and percent of HbF was by 42 +/- 9% and 35 +/- 8% of control cultures, respectively. Co-culture of erythroid progenitors from 10 patients with thalassemia major or thalassemia variant (HPFH/thalassemia, sickle/beta 0-thalassemia) with 200 U/ml IFN-gamma also resulted in a significant decrease in picograms and percent of HbF per BFU-E-derived erythroblast. IFN-gamma treatment also inhibited the enhancement in gamma-globin synthesis induced in culture by butyric acid. Erythroid progenitors from 2 patients with SCA, 1 patient with sickle/beta 0-thalassemia, and 1 patient with HbE/beta 0-thalassemia were co-cultured with IFN-gamma, L-alpha-amino-n-butyric acid, or both. HbF content (expressed as picograms HbF/cell) was decreased in samples co-cultured with IFN, increased in cultures with L-alpha-amino-n-butyric acid, but remained at control values in cultures treated with IFN plus L-alpha-amino-n-butyric acid. These data demonstrate that IFN-gamma is an environmental factor that influences gamma-globin gene expression in the beta hemoglobinopathies in vitro.
 ...
PMID:Interferon-gamma modulates fetal hemoglobin synthesis in sickle cell anemia and thalassemia. 170 29

During the past 15 years there have been remarkable advances in our understanding of the molecular biology of hemoglobin synthesis and the abnormalities in hemoglobinopathies and thalassemia. The globin genes were among the first mammalian structural genes that were cloned and the DNA sequence of the human globin gene clusters has since been completely delineated. During the last ten years, we have also learned of the many deletions and point mutations that give rise to hemoglobin-opathies and thalassemia. In addition, the sequences that control erythroid specific expression of the globin gene has also been revealed. These findings have contributed to our understanding of the pathophysiology of the diseases and have allowed the institution of accurate DNA diagnostic methods to be applied to prenatal diagnosis. As increased fetal hemoglobin synthesis is known to ameliorate the severity of the disease in disorders such as sickle cell anemia and thalassemia, agents which increase the level of fetal hemoglobin synthesis are being tested. Also, the discovery of DNA sequences and transacting factors which are responsible for high erythroid globin gene expression [4] may provide more effective means of gene therapy.
 ...
PMID:Molecular biology of hemoglobin: its application to sickle cell anemia and thalassemia. 172 57

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

Prior to recent advances in the field of molecular biology, prenatal diagnosis of hemoglobinopathies was accomplished by direct analysis of the gene product(s) in samples obtained by fetoscopy or, more recently, percutaneous umbilical blood sampling. The use of the polymerase chain reaction enables quicker diagnosis than with indirect or cumbersome Southern blot techniques. This case, reporting a couple at risk for fetal sickle cell disease, is a model for rapid prenatal diagnosis and demonstrates the capabilities which exist in the military health care referral system. Within 24 hours of a couple's presentation for consultation and accomplishment of chorionic villus sampling (CVS), preliminary results of both cytogenetic and sickle cell status of an at-risk fetus were determined. Final analysis was accomplished by 48 hours. The combination of early referral, early sampling by CVS, and application of advances in DNA laboratory technologies offers tremendous improvements for care heretofore unavailable as a complete "package" in the military. The implications and limitations for prenatal testing for single gene disorders within the military medical health care system will be discussed.
 ...
PMID:Molecular analysis and chorionic villus sampling (CVS): opportunities for rapid prenatal diagnosis in the military. 178 70

We have provided a global review of the current applications of newer modalities, particularly MR imaging, as applicable to the major manifestations of sickle cell disease, the most common hemoglobinopathy. There is a need for well-designed prospective longitudinal studies utilizing MR imaging to gain further insight into the pathophysiology of this intriguing disease. Additionally, MR imaging, because of lack of ionizing radiation, is ideally suited for long-term sequential studies and may thus provide an objective means for monitoring response to therapy.
 ...
PMID:Noninvasive diagnostic imaging in hemoglobinopathies. 186 20

Epidemiological studies have shown a consistent downward trend in the incidence and mortality of stroke in industrialized communities. There are however no reports on the pattern of stroke in Saudi nationals and expatriates in Saudi Arabia. The types and etiologies in 372 subjects (262 Saudis, 110 non-Saudis) are described. Males outnumbered females in the ratios of 2.2:1 and 8.2:1 for Saudis and non-Saudis, respectively. The frequency of stroke increased steadily with age until the 7th decade in Saudis but dropped sharply after the 6th in expatriates. The frequency of stroke types in Saudis was ischemic (61%), hemorrhagic (17%) and unspecified (22%) as against 46, 47, and 7% respectively in non-Saudis. Intracerebral hemorrhage was more frequent than subarachnoid hemorrhage (SAH) and was encountered more often in Saudis than in non-Saudis; SAH was 3 times more common in expatriates than in Saudis. The major predisposing factors for stroke were hypertension, diabetes mellitus, and cardiac disorders. Abnormal hemoglobinopathies, especially sickle cell anemia, were rare. The differences observed in the age and sex distribution and in the stroke pattern between Saudi nationals and expatriates most likely reflect the demographic structure existing in Saudi Arabia.
 ...
PMID:Stroke in a tertiary hospital in Saudi Arabia: a study of 372 cases. 186 67

Beta-thalassemia major and sickle cell disease are genetic disorders of red blood cells, caused by abnormal hemoglobin. These hemoglobinopathies affect males and females equally. Both are chronic disorders requiring lifelong treatment for affected individuals and education and support for them and their families. Special nursing considerations for the care of women facing the unique challenges of these disorders will be discussed.
 ...
PMID:Beta-thalassemia major and sickle cell disease. 193 81

Diagnostic tests for most common hemoglobinopathies and recent advances in structural analysis of variant hemoglobins are reviewed. Routine and newly introduced methods that apply to the diagnosis of sickle cell anemia, thalassemia and the hemoglobin E disorders are presented. A brief description of the clinical course for each of these disorders is given, and potential pitfalls in diagnosis are discussed. Application of high-performance liquid chromatography and various mass spectrometric techniques (electrospray ionization mass spectrometry, liquid secondary ion mass spectrometry, and tandem mass spectrometry) for evaluation of hemoglobinopathy is presented.
 ...
PMID:Laboratory diagnosis of hemoglobinopathies. 195 28

The pediatric patient with sickle cell disease risks having a vasoocclusive episode during adenotonsillectomy under general anesthesia. With proper patient selection and appropriate perioperative management, adenotonsillectomy can be accomplished safely in children with sickle cell disease. We review the management of 10 children with sickle hemoglobinopathies who had adenotonsillectomy. Indications for surgery were recurrent streptococcal infections in four and obstructive sleep apnea in six of these children. No complications resulted from any of these procedures, and the mean length of postoperative hospitalization was 2.4 days. The principal feature of preoperative management was the transfusion of red blood cells to suppress the patient's endogenous erythropoiesis and to reduce the concentration of sickle cell hemoglobin to less than 30%. Though a prospective, multi-institutional clinical trial will ultimately be required to settle the issue of the safest preoperative management of children with sickle cell disease, balancing the risks of transfusion-related complications against anesthesia-related complications, our experience supports the operative safety of hypertransfusion therapy in children with sickle cell disease.
 ...
PMID:Adenotonsillectomy in children with sickle cell disease. 199 Apr 54


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>