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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

48 of 391 apparently healthy adult Saudi males had an AS hemoglobin pattern on electrophoresis, four subjects had an S pattern, and two subjects AC. A dithionite screening test lacked sensitivity and specificity in detecting hemoglobin S under the conditions of this study. A sickle cell trait frequency of 0.123 evidenced by hemoglobin electrophoresis correlates closely with previous studies of hemoglobinopathies in Saudi Arabs. The presence of four subjects with sickle cell disease in the study group provides further evidence of the "benign" nature of sickle cell disease in Saudi Arabia.
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PMID:Screening for abnormal hemoglobins in the middle east: new data on hemoglobin S and the presence of hemoglobin C in Saudi Arabia. 82 97

Seven patients had sickle cell trait (hemoglobin AS) and vasoproliferative retinopathy. The retinal abnormalities in these seven patients were indistinguishable from those seen in patients with clinically significant sickling hemoglobinopathies (sickle cell-hemoglobin C disease, hemoglobin S-thalassemia disease, and sickle cell anemia). All seven patients also had some evidence of associated systemic disease such as diabetes, syphilis, tuberculosis, or sarcoidosis. In the presence of an associated systemic disease, marked retinopathy can occur in the ordinarily benign condition of sickle cell trait.
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PMID:Proliferative retinopathy in sickle cell trait. Report of seven cases. 84 50

A total of 422 patients with sickle cell disorders have been observed for 3,442 patient years. During this period, 53 episodes of septicemia or meningitis occurred, indicating a risk of 12.5% from these infections for each individual. If only patients with SS hemoglobinopathy (sickle cell anemia) (323 patients) are considered, the risk was 15.2%. The case fatality ratios for sepsis and meningitis were 35% and 10%, respectively. Disease due to Streptococcus pneumoniae occurred, almost exclusively, among children with SS hemoglobinopathy who were less than 5 years of age. After the first decade, illnesses among patients with all types of sickle cell disorders were frequently associated with an identifiable source of infection, a chronic course, and frequent involvement of Gram-negative organisms.
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PMID:Bacterial meningitis and septicemia in sickle cell disease. 87 15

Sickle cell anemia is associated with an alarming attrition rate during pregnancy. The maternal morbidity rate, perinatal wastage rate, and the incidence of severe morbidity in both mother and child are elevated above acceptable limits. In most cases, these statistics have been compiled using conservative therapeutic modalities. In contrast, this report utilizes prophylactic partial exchange transfusion therapy in patients with severe sickle cell hemoglobinopathies. The protocol involves the introduction of 750-1000 cc of buffy coat, poor washed red cells exchanged with 1000-1500 cc whole blood during phlebotomy at 28 weeks' gestation and again prior to term. Thirty-six consecutive pregnant patients with sickle cell anemia have been managed in this fashion. The one maternal mortality occurred in a patient who did not complete the protocol. Major maternal morbidity and perinatal wastage rates were significantly decreased. Two cases of serum hepatitis occurred. It appears from these data that the use of prophylactic partial exchange transfusion in pregnant patients with severe sickle cell hemoglobinopathies can be of benefit. Further trials of this method seem justified by these results to assess completely the benefit-risk ratio of this procedure.
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PMID:The use of prophylactic partial exchange tranfusion in pregnancies associated with sickle cell hemoglobinopathies. 98 Feb 80

Formamide gel electrophoresis separates the mRNA fraction from reticulocyte polyribosomes of adult humans into two major RNA species with migratory rates identical to those of the alpha- and beta-globin mRNAs of the rabbit. That these two RNAs of human origin are the globin mRNAs is further supported by the deficiency of the presumed beta mRNA in reticulocyte polyribosomes of fetuses and premature infants, whose cells make gamma chains in preference to beta chains. The globin mRNAs of reticulocyte polyribosomes from patients with hematological disorders were estimated by scanning the stained formamide gels. In contrast to individuals with either hemolytic anemia without hemoglobinopathy or sickle cell anemia who had beta mRNA to alpha mRNA ratios of approximately one, a patient with Hb S-beta-thalassemia had a ratio of beta mRNA to alpha mRNA of 0.75 while two subjects with homozygous beta-thalassemia had severe deficiencies of beta mRNA. Conversely, a patient with alpha-thalassemia (Hb H disease) had a ratio of beta mRNA to alpha mRNA on reticulocyte polyribosomes of 6. These data provide further evidence of a quantitative deficiency of chain-specific globin mRNA in patients with the thalassemia syndromes.
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PMID:Further evidence of a quantitative deficiency of chain-specific globin mRNA in the thalassemia syndromes. 105 38

Many complex forces are at work during adolescence which can contribute to the occurrence of anemia. Careful consideration of the entire patient should enable a physician to identify the unusual as well as the more common causes of anemia in this age group. Anemia in teenage girls is primarily due to menstrual iron loss. In boys, borderline diets and the demands of rapid growth predominate as causative factors. Hemoglobinopathies (thalassemia, sickle cell disease), G6PD deficiency, infectious mononucleosis, and illicit drug use account for small proportions of cases.
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PMID:Anemia in adolescence. 2. Hemoglobinopathies and other causes. 110 36

Acute illness characterized by fever, cough, chest pain and pulmonary infiltrates on chest film is characteristic of patients witb sickle cell anemia and with sickle-C disease. The underlying hemoglobinopathy is usually recognized in the former, but because patients with sickle-C disease as a rule have less severe anemia and fewer, less severe crises their abnormal hemoglobin may not be detected until adolescence or adulthood. Acute pulmonary illness in such patients may therefore present a diagnostic dilemma for the unwary. Two cases are presented to highlight this point. Pulmonary angiographic findings in patients with sickle cell states might add information about the pathogenesis of this disorder since vascular occlusion appears to play a major role. Pulmonary angiograms in the two patients we describe documented the presence of localized abnormalities of perfusion. In one, the presence of filling defects in medium-sized arteries suggests intravascular thromboembolism.
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PMID:Hemoglobin S-C disease presenting as acute pneumonitis with pulmonary angiographic findings in two patients. 112 91

Strategies for the treatment of sickle cell anemia and beta-thalassemia are founded on the knowledge that these disorders result from structural or functional defects in an adult gene for which an intact fetal counterpart exists. During the past decade, several pharmacologic agents have been investigated for their potential to ameliorate sickle cell anemia and beta-thalassemia by increasing the synthesis of fetal hemoglobin in adults. Progress in understanding globin gene regulation is now being combined with advances in retrovirus-mediated gene transfer, and the once-distant goal of providing gene therapy for hemoglobinopathies is rapidly approaching reality.
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PMID:Future prospects for treatment of hemoglobinopathies. 834 83

Liver changes in patients with sickle cell anemia, for some authors, is a common finding and is hot in relation with the severity of the anemia. The grade of liner disfunction or malfunction is related with ischemia and, there exists probable, slowing of intrahepatic circulation secondary to sinusoidal obstruction due to masses of sickle cells and to the hypertrophy of Kupffer cells. In this paper, clinical morphologic and ultrastructural findings of 21 cases of SS and SA, hemoglobinopathies are presented. Sixty percent were females and forty percent were males with ages between 18 and 46 years. The most frequent microscopic findings were sinusoid distention followed by hypertrophy of Kupffer cells and inflammation. Areas of necrosis, fatty changes and iron deposits were also seen.
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PMID:[Sickle-cell anemia. The liver lesions. A clinical, morphological and ultrastructural study of 21 cases]. 134 Aug 23

The splenic function measured by the counts of "pitted" erythrocytes has been assessed in 87 patients with sickle cell disease (59 homozygotes for hemoglobin S (SS), 14 double heterozygotes for Hb S and beta zero thalassemia (S/beta zero thal), 4 S/beta+ thal and 10 SC patients) in Southeast Brazil. Results showed a progressive increase in pit counts according to age. The reduction pattern in the splenic function was similar for the SS, S/beta zero thal and S/beta+ thal patients, and over the age of 12 almost all patients presented counts compatible with severe splenic hypofunction. Patients with SC hemoglobinopathy presented slower development of hyposplenism and lower levels of pit counts even in advanced ages. Except for S/beta+ thal patients, the developmental pattern of hyposplenism was not different from that reported among patients in the United States and Jamaica.
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PMID:Pattern of splenic phagocytic function in Brazilian patients with sickle cell disease. 134 Oct 23


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