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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Histochemical and light and electron microscopic studies of two eyes of a patient with homozygous sickle cell disease and angioid streaks demonstrated heavy calcification and breaks in Bruch's membrane. We were unable to demonstrate iron deposition by histochemical techniques or transmission electron microscopy. These studies suggest that calcification rather than iron deposition is the major factor leading to brittleness of Bruch's membrane in patients with hemolytic anemia and angioid streaks.
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PMID:Calcification of Bruch's membrane in angioid streaks with homozygous sickle cell disease. 380 Jul 52

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

Serum ferritin, aspartate aminotransferase (AST), alkaline phosphatase and hydroxybutyrate dehydrogenase (HBD) were studied during 21 vaso-occlusive crises in 12 adults with sickle cell disease (11 SS, 1 S beta degrees). The patients comprised three groups: those who had been untransfused (4), those who had received occasional exchange transfusion in crisis (3), and those who had been multiply transfused (5). Serum ferritin concentrations in crisis were compared with those of the steady state value. Rises in serum ferritin concentrations occurred in all crises in all groups. Although AST, alkaline phosphatase, and HBD rose, there was no correlation between these and log ferritin concentrations. The clinical impression was that the degree of rise in ferritin related to the severity of the particular crisis, and the above results showed that haemolysis and liver damage were not causally related to this rise. An estimate of serum ferritin cannot be used to assess the state of iron balance in sickle cell disease unless the patient is in the steady state. The considerable rise in serum ferritin concentration found in crisis, however, may be a useful marker of the extent of vaso-occlusion and tissue damage.
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PMID:Serum ferritin concentration in sickle cell crisis. 395 15

In autopsy studies of two sickle cell anemia (SCA) patients, iron was totally absent from all organs in one case in which the serum ferritin had been low, while the other patient demonstrated hepatic, splenic, and renal siderosis but no iron stores in the bone marrow. Serum ferritin had been very high in this case. These findings suggest that in SCA bone marrow biopsy may be an unreliable means to determine iron stores, but rather the ferritin level should be used.
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PMID:Compartmentalization of iron in sickle cell anemia--an autopsy study. 396 42

Iron absorption as measured by a faecal recovery method in young adult males living in a tropical zone was high, even in the absence of anaemia. There was an inverse relation between the iron absorption and the packed cell volume. The highest absorption was found in sickle cell anaemia patients, where the packed cell volume is the lowest. The incorporation of iron was also the fastest and greatest in this group. In the controls the iron absorbed accumulated in the marrow and the spleen on the first day; in the sickle cell anaemia group the spleen has an insignificant role in iron storage. The growing radioactivity in the liver parallels that of the heart in the group of sickle cell anaemia patients; however, it remains low in the spleen in the same group, implying a diminution of splenic blood flow. In the sickle cell haemoglobin C and the haemoglobin C patients, the liver and spleen have an intermediate position between that of the sickle cell anaemia group and the control group.
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PMID:Studies on iron metabolism in sickle cell anaemia, sickle cell haemoglobin C disease, and haemoglobin C disease using a large volume liquid scintillation counter. 542 47

The iron status in children with sickle cell anaemia has been studied in 45 patients. The mean haemoglobin level was 7.4 g/dl (s.d. 1.7) and the white cell count more than 11 X 10(9)/l in 35 (78%). Bone marrow examination showed depletion of iron stores of 21 (47%). The total iron binding capacity was elevated in most of the children and serum iron was below the normal mean level for age in 14 (31%) children. The possible causes of iron deficiency in some of these children include dietary deficiency, infections, malabsorption, blood loss through hookworm infestation and growth spurt. In the management of a child with sickle cell disease, iron administration is not recommended unless there is evidence of coexisting iron deficiency.
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PMID:Iron deficiency in sickle cell anaemia in Nigerian children. 618 85

A 47-year-old man with sickle cell anemia, chronic cor pulmonale, and congestive heart failure died following a short illness. A diagnosis of iron deficiency was established during life by usually accepted criteria including a low serum ferritin concentration. Autopsy showed no stainable iron in the bone marrow, liver, and the heart. Marked deposits of iron were seen in the kidneys and the atrophic spleen. These findings suggest that the serum ferritin concentration may not reflect the metabolically sequestered stores of iron in the spleen and the kidneys.
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PMID:Serum ferritin and sequestered stores of body iron. 619 14

The prevalence of iron deficiency anaemia during the first three decades of life was investigated in eighty-five patients with SS and SC haemoglobins. The parameters used were the haematocrit, serum iron, total iron binding capacity (TIBC), percentage saturation of transferrin and availability of iron in the bone marrow. The mean haematocrit values were similar throughout the three decades, but increased with age (r = 0.41). The mean serum iron was significantly lower (P less than 0.01) in the first decade than in the second or third decade. Females had lower serum iron in the first and second decades and higher values in the third decade than their male counterparts. The transferrin saturation was significantly lower (P less than 0.01) in the first decade than in the third decade. No haemosiderin was found in the marrow aspirates at a transferrin saturation of less than or equal to 15%. Of the eighty-five bone marrow aspirates studied for stainable iron, fifty-eight (68.2%) had nil iron. The data presented show that iron deficiency anaemia is a common finding in patients with haemoglobinopathies. The need to incorporate oral iron with folic acid and paludrine in the treatment of sickle cell disease is suggested.
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PMID:Iron studies in patients with sickle cell disease. 628 23

The indications and management of blood transfusion in the haemoglobinopathies have been reviewed. The sickle cell diseases that require transfusion support are sickle cell anaemia, sickle haemoglobin-C and -D diseases and sickle beta-thalassaemia. Homozygous beta-thalassaemia (Cooley's anaemia) is the major problem among the thalassaemias. The pathophysiology of the sickle cell disorders is largely based on the secondary effects of increased blood viscosity, whereas in the thalassaemias the defect is ineffective haematopoiesis. In the former the major problems occur as manifestations of vaso-occlusive crises with disseminated bone and abdominal pain, priapism, stroke and leg ulcers. Bone infarction and aseptic necrosis occur but the widespread bone changes, underdevelopment and haemochromatosis that complicate the thalassaemia are not prominent. Transfusion therapy in the sickle cell diseases is mainly episodic and is guided by the frequency of crises and the severity of vaso-occlusive complications. Partial exchange transfusion and the maintenance of haemoglobin A concentrations at 40 to 50 per cent is frequently indicated. In the thalassaemias, maintenance of haemoglobin levels is essential for normal growth and development. The problem of haemochromatosis is very serious. With hypertransfusion regimens the haemoglobin and haemotocrit are maintained above 12-13 g/dl and 35 per cent. The resulting benefit appears to be reduced blood volume, less iron turnover, and less intestinal iron absorption. The splenomegaly in these disorders is frequently associated with hypersplenism requiring well-timed splenectomy. Chronic and intensive chelation is necessary to prevent the ravages of iron overload. The availability of automated equipment for in vivo and ex vivo blood cell separation has brought new possibilities for improving the management of these haemoglobinopathies. It is feasible, but not as yet practical, to offer transfusions of neocytes (red cells with a mean age of 30 days) which have a 50 per cent longer survival than routine red cell preparations (mean age of 60 days). Neocytes can be prepared ex vivo from fresh routine blood donations using blood cell separator devices. The result is reduced transfusion requirements. A more recent suggestion for using the new technology is to remove the patient's oldest and most abnormal corpuscles on the basis of buoyant density and replacing them with neocytes . Thus the short-lived abnormal red cells would be removed before they could unload their iron. With automation it is possible to perform these procedures on an outpatient basis.
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PMID:Transfusion support for haemoglobinopathies. 637 80

Two 19-year-old men with sickle cell anemia and hypogonadism had hypothalamic dysfunction that responded to oral clomiphene therapy. The patients had no nutritional deficiencies or anatomic lesions known to result in the hypogonadism associated with sickle cell anemia. Their sickle cell disease was characterized by infrequent crises, severe hemolytic anemia, urinary iron loss, and iron deficiency. Partial hypothalamic hypogonadism was shown by low levels of testosterone, low to low-normal levels of luteinizing hormone and follicle-stimulating hormone, and a nearly normal rise in gonadotropin levels in response to exogenous gonadotropin releasing hormone. Treatment with oral clomiphene raised luteinizing hormone, follicle-stimulating hormone, and testosterone levels to normal, and induced puberty in both patients. Treatment was discontinued in one patient because of the onset of priapism, but was continued for 10 months without side effects in the other. Severe hypogonadism in patients with sickle cell anemia should be thoroughly evaluated and clomiphene therapy considered in patients with hypothalamic dysfunction.
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PMID:Clomiphene-responsive hypogonadism in sickle cell anemia. 641 55


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