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

A case of non-Hodgkin's lymphoma with leukemic spread in a patient affected with homozygous sickle cell disease is reported. This association has not been previously described. A correlation between the malignancy and the hemoglobinopathy could not be etiologically ascertained; therefore, an alternative explanation to a chance event cannot be offered.
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PMID:Non-Hodgkin's lymphoma associated with sickle cell disease: a case report. 368 85

The clinical course and therapy of femoral head necrosis after a minimal trauma in a 14 year old Turkish girl with sickle cell anemia is described. In this hemoglobinopathy one must be aware of complicated clinical courses even after minor accidents. The immediate start of therapy in an acute crisis and the early diagnosis of bone infarction and femoral head necrosis are necessary to avoid large bone defects.
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PMID:[Femur head necrosis in sickle cell anemia]. 370 93

Two hundred and forty-five patients with SS hemoglobinopathy were screened for alloimmunization; they had all been transfused previously. Their median age was 10 years. Nineteen patients (7.75%) were found to be sensitized to various red cell antigens. The median number of transfusions received by sensitized patients was 23 compared to three in the unsensitized group, indicating an increased risk with more transfusion exposures. Thirteen sensitized patients were re-exposed to transfusion and four (30%) developed new alloantibodies. Once immunized, the risk of developing more alloantibodies on re-exposure did not increase with increasing number of exposures. The most frequently observed alloantibody was anti-K, accounting for 38 percent of all instances. Anti-Lea and -Leb were next in frequency (24%); Rh antibodies were seen in 14 percent of cases. Children with sickle cell anemia who were multiply transfused had a low frequency of alloimmunization. Responders had an increased rate of further sensitization which did not increase with number of subsequent exposures. Phenotypically matched blood is probably not warranted in most patients receiving transfusions for sickle cell anemia.
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PMID:The incidence of development of irregular red cell antibodies in patients with sickle cell anemia. 370 43

Red cell distribution width (RDW), an electronically determined index of anisocytosis, was examined in 60 patients with sickle cell anemia (Hb SS), 28 patients with hemoglobin sickle cell (SC) disease, and seven patients with sickle cell-beta(+) thalassemia (S-thal). All patients were adults and in the steady state of their disease. The RDW was greater in sickle cell patients than in 39 healthy, age and race matched controls without hemoglobinopathy (Hb AA). Patients with sickle cell anemia had higher mean RDW than those with Hb SC disease or with S-thal. The mean RDWs in the latter two disorders were not significantly different. In SS patients, the RDW correlated significantly with the degree of anemia and reticulocytosis. A group of 18 SS patients was studied while in acute painful crisis. Their mean RDW was not different from that in the steady state. Mean WBC and red cell volume, however, were significantly higher during pain crisis.
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PMID:Red cell distribution width in sickle cell disease. 374 Jul 96

In 1982, under New York State's Newborn Screening Program, New York City identified 4,565 infants with trait hemoglobinopathies. Of the 3,200 families notified of the results, 1,531 (2,190 parents) were tested and counseled, resulting in 22 parents diagnosed with sickle cell disease and 39 couples found at risk for having a child with sickle cell disease. Amniocentesis was performed in 14 of the 28 at risk pregnant women and three of the four affected pregnancies were terminated. Despite the low follow-up rate, which was related to the degree of individual hospital persistence, the authors maintain that the screening provides benefits not only to newborns but also to parents with disease hemoglobinopathies and to those at risk, and that it fulfills an ethical obligation to present and future parents in their "right to know" and to be counseled.
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PMID:Newborn screening for hemoglobinopathies: the benefit beyond the target. 375 27

Will the development of safe, accurate prenatal diagnosis for Cooley's anemia result in a reduction in the unwanted birth of children with Cooley's anemia in the United States? Since detection of couples at risk only through the birth of an affected child will lead to a minimal reduction in the incidence of the disease, carrier screening will be necessary. A pilot project of prenatal hemoglobinopathy screening is being conducted in Rochester, New York, to answer the question "Should hemoglobinopathy carrier screening and genetic counseling of positives be part of routine prenatal care?" In the first 27 months of this study, 6,641 unselected pregnant women have been screened on the first prenatal visit, regardless of race and ethnic origin. Of these, 304 have been positive for some type of hemoglobinopathy. Of the 293 analyzed here, the proportion coming for counseling was 61% of the total group and 77% of the thalassemia trait subgroup. Of this number, the proportion wanting their mate tested was 98% of the total group and 100% of the thalassemia trait subgroup. The proportion of those counseled whose mate was actually tested was 60% for the total group and 70% for the thalassemia trait subgroup. The proportion of at risk couples wanting amniocentesis (mostly for detection of sickle cell disease) was 61%. We conclude that, when comprehensive hemoglobinopathy screening is incorporated into routine prenatal screening, the majority of positive women make an extra visit to receive an explanation, nearly all women coming for counseling want their mate tested, the majority of mates come for testing, and the majority of couples at risk want amniocentesis. Further, pregnant women with beta-thalassemia trait may be more inclined to act upon identification as a carrier than are positive women at large.
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PMID:Toward providing parents the option of avoiding the birth of the first child with Cooley's anemia: response to hemoglobinopathy screening and counseling during pregnancy. 386 Jan 40

Support from the national sickle cell disease program in the United States is resulting in significant advances in health care. Ten regional comprehensive sickle cell centers provide a variety of management strategies. An example is the inauguration of neonatal diagnosis for sickle hemoglobinopathies, with parental education and the utilization of special follow-up clinics for affected infants. The administration of prophylactic antibiotics and improved vaccines for control of life-threatening infection is enhancing survival in infants and children. A number of antisickling agents are under preliminary clinical investigation in adult patients. Bone marrow transplantation represents another potential method for management of selected types of sickle cell disease. The results of a national cooperative study on the clinical course of the disease, which was inaugurated in 1978, is providing new information that will be helpful to clinicians and health planners. The federally funded sickle cell centers have effectively utilized interdisciplinary personnel to provide comprehensive medical care, psychosocial support, and patient education. These centers serve as models or bridges whereby the fruits of research activity can be more readily applied to the care of patients. This comprehensive approach, no doubt, can contribute to improvement in the survival of and quality of life for patients. There is, however, a need to continue national support for research efforts to attain a definitive cure for this serious, painful, and disabling illness, which affects about 50,000 people in the United States and many more in other countries. Currently, many families of affected patients are unable to cope personally with socioeconomic problems imposed by the long-term nature of this illness, insufficient income, inadequate insurance coverage, and escalating costs of health care. Clearly, there is a need for additional state and/or federal programs to provide supplements for the medical expenses incurred by persons with long-term handicapping diseases of genetic origin.
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PMID:Advances in the treatment of sickle cell disease in children. 390 8

Most pathologic studies of liver disease in sickle cell anemia and its variants were performed retrospectively on autopsy specimens, and, because of the prominent histologic features of intrasinusoidal sickling and Kupffer cell erythrophagocytosis, hepatic dysfunction was attributed to the intrahepatic sickling of erythrocytes in this hemoglobinopathy. We compared the liver histology from 19 patients who had liver biopsies to the autopsy specimens from 32 patients who succumbed to the complications of the hemoglobinopathy. In the former, nine patients had histological evidence of viral hepatitis. Four of these patients had both serological and immunohistochemical evidence of hepatitis B surface antigen. The features of biliary tree obstruction were found in two cases and alcoholic cirrhosis and sarcoid granuloma in one case each. Only one patient, who had recovered from septic shock, showed ischemic necrosis. In five patients incidentally biopsied during cholecystectomy, no significant lesions were found. Fourteen of the autopsy specimens showed ischemic necrosis, a result which was significantly different from the biopsy group. Ten cases had no significant morphologic changes other than heavy iron deposits. There were two cases with chronic active hepatitis, two with diffuse fibrosis, and one case each of cirrhosis, acute viral hepatitis, cholestasis, and giant cell hepatitis. Intrahepatic sickling and erythrophagocytosis were seen in almost all specimens and did not correlate with liver disease or transaminase elevation. Other than the patient with septic shock, ischemic necrosis was found only in postmortem material. These histological features may represent red cell destruction rather than the etiology of liver disease in these patients.
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PMID:Pathological spectrum of liver diseases in sickle cell disease. 394 29

We examined the extent to which the intracellular polymerization of sickle hemoglobin (HbS) can account for the severity of anemia and of vaso-occlusive manifestations in the various sickling syndromes. Polymer formation in sickle cell disease depends principally on the intraerythrocytic hemoglobin composition and concentration. In our studies, the polymer fraction in sickle red cells was determined from reported mean values for hemoglobin composition and mean corpuscular hemoglobin concentration (MCHC) in 12 groups of patients with sickle hemoglobinopathies (homozygotes for HbS, with and without coexistent alpha-thalassemia or various forms of the hereditary persistence of fetal hemoglobin [HPFH], beta+-, beta 0-, and delta beta-thalassemia, and heterozygotes for HbS with HbA). The calculated HbS polymer fractions at full deoxygenation and at physiologic oxygen saturation values were closely correlated with mean blood hemoglobin concentrations. In addition, polymer fraction correlated with the ranking of the sickling syndromes by vaso-occlusive severity. We find that polymer fraction accounts for about 80% of the variability in hemolytic and clinical severity. The method of analysis presented here provides a quantitative and systematic means of assessing the role of polymer formation in the pathophysiologic manifestations of the sickling syndromes. Our results support the hypothesis that the intracellular polymerization of HbS is the primary determinant of the severity of both anemia and clinical symptomatology in the sickle hemoglobinopathies.
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PMID:Hemoglobin S polymerization: primary determinant of the hemolytic and clinical severity of the sickling syndromes. 396 46

The red blood cell distribution width index (RDW) was determined in a group of anemic male patients and normal male blood donors. Elevated mean RDW values were found in the anemic patients, with the highest value seen in sickle cell anemia, sickle cell-beta thalassemia, sickle cell trait, beta-thalassemia trait, and iron deficiency in decreasing order of magnitude. The mean RDW of the normal male subjects was 11.3. It was found that the RDW was proportional to the reticulocyte count, with the highest values in the patients with the highest reticulocyte count (sickle cell anemia). One clinical value of the RDW therefore may lie in its capacity for reflecting active erythropoiesis. For example, patients with normal or near-normal hemoglobin and with high RDWs may be suspected of having an elevated reticulocyte count that may indicate a hemoglobinopathy, such as sickle cell trait or thalassemia trait.
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PMID:Red blood cell distribution width index in some hematologic diseases. 396 61


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