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

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

We report a case of erythrocytosis in a patient with end-stage renal failure on chronic hemodialysis. The patient with polycystic kidney disease had an average Hb level of 10 g/dl while on hemodialysis for 3 years. He developed erythrocytosis (Hb 17.6 g/dl) following a cadaveric renal transplantation. No signs suggesting polycythemia vera were found. Nonrenal causes of secondary erythrocytosis such as anoxia, hemoglobinopathies or tumors were excluded. Angiography showed renal artery occlusion of the native kidney. Serum erythropoietin level was 85 U/l (normal 52 +/- 31 U/l) as measured by 3H-thymidine uptake. It is suggested that ischemia caused by the renal artery thrombosis stimulated the erythropoietin production in the native polycystic kidney.
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PMID:Erythrocytosis associated with renal artery thrombosis in a patient with polycystic kidney disease on hemodialysis. 211 27

Sickle cell retinopathy in its advanced form is complicated by preretinal neovascularization, vitreous hemorrhage, and retinal detachment. Treatment of neovascularization can be performed with photocoagulation. Complications such as retinal breaks, retinal detachments, and choroidally fed neovascularization may result from such treatment. The risks vs. the benefits of various types of photocoagulation are currently being evaluated. Cryotherapy also may be used to treat neovascularization. It is currently being used in eyes with media that are too hazy to permit photocoagulation. It is used commonly during scleral buckling and vitrectomy procedures. In eyes with decreased visual acuity secondary to prolonged vitreous hemorrhage, pars plana vitrectomy can be utilized to produce optically clear media. Complications (including erythrocyte-induced glaucoma), however, may be severe. Retinal detachment can be treated by scleral buckling, but the markedly increased risk of anterior segment ischemia in patients with sickle cell hemoglobin necessitates preoperative, intraoperative, and postoperative prophylactic measures to minimize the risk of this potentially devastating complication. In eyes with retinal detachment with cloudy media and severe vitreous traction, combined scleral buckling and vitrectomy may be necessary. These eyes are extremely fragile, and a successful result is currently obtained in only about 50% of such cases. Hyphemas in patients with sickle cell hemoglobinopathies, whether traumatically or surgically induced, may have devastating effects on the eye. If elevated IOP results decreased vascular perfusion of the eye may cause irreversible damage to the retina and optic nerve. Most antiglaucoma medications, when used in the sickle cell patient, have a narrow margin of safety. Therefore, early surgical intervention for the treatment of sickle cell hyphemas is currently being evaluated.
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PMID:Diagnosis and management of ocular complications of sickle hemoglobinopathies: Part V. 242 44

Ten patients (11 eyes) with sickle-C hemoglobinopathy with complications of proliferative sickle retinopathy were treated using pars plana vitrectomy with or without the use of a scleral buckle. Postoperative visual acuity was improved in ten of 11 cases. Three cases of retinal detachment were managed by internal vitreoretinal techniques alone without the use of a scleral buckle. Although exchange transfusions were used in only five of the 11 cases, no cases of recognized anterior segment ischemia occurred during the postoperative course of these patients. Because of exchange transfusion risks and awareness of intraoperative and postoperative measures to reduce this complication, the use of exchange transfusions probably should be discontinued as prophylaxis for vitreoretinal surgery in these patients.
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PMID:Pars plana vitrectomy in the management of complications of proliferative sickle retinopathy. 319 May 40

Eighteen patients (19 eyes) with sickling hemoglobinopathies underwent vitrectomy or scleral buckling operations. The indications for surgery were tractional or rhegmatogenous retinal detachment or vitreous hemorrhage. The retina was reattached in all four patients with rhegmatogenous detachments requiring scleral buckling surgery but no vitrectomy. All had excellent visual acuity postoperatively. Four of the five patients with vitreous hemorrhage requiring vitrectomy without buckling had substantial improvement in visual acuity. In ten patients with vitreous hemorrhage with either preexisting or iatrogenic retinal breaks, rhegmatogenous detachment, or tractional detachment, the rate of improvement in visual acuity was only 50%. Problems associated with vitreous or retinal surgery in patients with sickling hemoglobinopathies include iatrogenic retinal breaks, intraocular bleeding and secondary glaucoma, anterior segment ischemia, and systemic sickling.
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PMID:An update on vitrectomy surgery and retinal detachment repair in sickle cell disease. 707 71

The authors studied 31 cases of coronary artery disease with normal or minimally diseases coronary arteries in black Africans, 29.8% of 104 coronary patients undergoing coronary angiography in this series. These 31 cases comprised 16 cases of infarction, 10 cases of angina, 3 ventricular aneurysms and 2 cases of silent ischemia in diabetic patients. Twenty-five patients were men (80.6%). There were 6 women (19.3%) two of whom presented in the post-partum period. The average age of these patients was 45 years (males: 47.7 years; females: 41.8 years). The following risk factors were noted: smoking (60%), hypertension (25.8%), obesity (29%), diabetes (12.9%), serum cholesterol (average 2.15 g/l), serum triglycerides (average 1.25 g/l). The risk index per patient was 1.29. In comparison with coronary patients with angiographic coronary lesions (n = 73), the patients with normal angiography were significantly younger, comprised more females and had fewer risk factors (especially hypertension and diabetes), though this was not statistically significant. The prevalence of inaugural infarction was 81.2% in the cases of infarction with normal coronary arteries. These infarcts may be complicated by ventricular aneurysm formation. Spontaneous spasm was observed in 3 out of 31 patients (9.6%) at coronary angiography. A provocative test was performed in only 2 cases and 1 was positive. This deserves further study and may have therapeutic implications. The authors emphasise the high incidence of hemoglobin S or C traits (57.1%). These heterozygotic hemoglobinopathies could be a risk factor in these coronary patients with normal coronary angiography.
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PMID:[Coronary disease with normal coronarography in the black Africans: epidemiological and clinical data in 31 cases. Role of abnormal hemoglobins]. 823 68

Infarctions of the long bones in sickle cell anemia and some of its variant hemoglobinopathies are well known. Photopenia representing areas of acute infarctions of the ilia in two young children are presented as unusual presentations of bone ischemia.
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PMID:Infarctions of the ilia in young patients with sickle hemoglobinopathies. 834 22

Sickle cell anemia and the related hemoglobinopathies are associated with a large spectrum of renal abnormalities. The patients have impaired urinary concentrating ability, defects in urinary acidification and potassium excretion, and supranormal proximal tubular function. The latter is manifest by increased secretion of creatinine and by reabsorption of phosphorus and beta(2)-microglobulin. Young patients with sickle cell disease (SCD) have supranormal renal hemodynamics with elevations in both effective renal plasma flow (ERPF) and glomerular filtration rate (GFR). These parameters decrease with age as well as following the administration of prostaglandin inhibitors. Proteinuria, a common finding in adults with sickle cell disease, may progress to the nephrotic syndrome. Proteinuria, hypertension, and increasing anemia predict end-stage renal disease (ESRD). While ESRD can be managed by dialysis and/or renal transplantation, there may be an increased rate of complications in renal transplant recipients with SCD. Hematuria is seen in individuals with all of the SCDs as well as with sickle cell trait. In most cases the etiology of the hematuria turns out to be benign. However, there does appear to be an increased association between SCD and renal medullary carcinoma. Therefore, those SCD patients who present with hematuria should initially undergo a thorough evaluation in order to exclude this aggressive neoplasm. Papillary necrosis may occur due to medullary ischemia and infarction. Erythropoietin levels are usually lower than expected for their degree of anemia and decrease further as renal function deteriorates. An abnormal balance of renal prostaglandins may be responsible for some of the changes in sickle cell nephropathy. Acute renal failure is a component of the acute multiorgan failure syndrome (MOFS). Finally, progression of sickle cell nephropathy to ESRD may be slowed by adequate control of hypertension and proteinuria. However, the prevention of the renal complications of SCD will require a cure for this genetic disorder.
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PMID:Renal abnormalities in sickle cell disease. 1142 1

The treatment of non-traumatic ischaemic osteonecrosis of the femoral head (ONFH) remains problematical and there is evidently scope to seek for a medical treatment of this disease which often leads to a surgical procedure for hip prosthesis. If we exclude the context of hemoglobin disorders, necrosis appears mainly in adults, when their limb bones contain a fatty marrow. Investigations such as intramedullary pressure measurement and transosseous phlebography suggest a disorder of the intraosseous blood circulation. Various studies in animals and man have provided arguments indicating that a kind of intraosseous 'obesity' due to hyperplasia and/or hypertrophy of the fatty tissue of the femoral marrow play a role in the development of necrosis. In this respect, the blood flow of the yellow marrow is close to ischemia, whereas red marrow flow can be very high. In various conditions, mainly hemolytic anemias, the femoral yellow marrow can convert to red marrow, which has also been described in anemias induced by blood loss. If it is not thought unreasonable to consider ONFH an 'ischemic' disease, these observations are an encouragement to attempt treatment by repeated phlebotomies. This procedure may locally restore red marrow, and then an adequate blood flow which could stabilize or even reverse the lesions if they are diagnosed early.
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PMID:Phlebotomy: a treatment of ischaemic necrosis of the femoral head? Analysis of a hypothesis. 1087 13

Sickle cell disease is the most common and severe hemoglobinopathy. Ocular complications are related to ischemic retinopathy. Retinal examination has to be done in homozygous or double heterozygous patients and when the sickle trait is present with additional systemic vascular conditions. Fluorescein angiography is the main investigation. Photocoagulation to ischemic areas is effective in achieving regression of neovascularization. Various measures to reduce ischemia are recommended for surgical procedure. Multidisciplinary teams should take on severe cases.
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PMID:[Retinal involvement in hemoglobinopathy]. 1191 46


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