Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Patients receiving chronic transfusion for aplastic anemia or hemoglobinopathy are believed to be at high risk for developing red blood cell alloantibodies, while those undergoing chemotherapy for leukemia are believed to be at low risk. To test this hypothesis, we studied the acquisition of new alloantibodies in 703 transfused patients. While none of 99 patients with lymphocytic leukemia made new antibodies, patients with myelogenous leukemia (16%), hemoglobinopathy (29%), aplastic anemia (11%), gastrointestinal bleeding (11%) or renal failure (14%) made antibodies at statistically similar rates. Lymphocytic leukemia or its treatment is characterized by a lack of immunologic response to transfusion. Patients with hemoglobinopathy or aplastic anemia do not appear at statistically significant greater risk of alloimmunization than many other patients requiring chronic transfusion. Neither intensive chemotherapy for myelogenous leukemia nor the uremia of renal failure significantly suppress the formation of blood group antibodies.
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PMID:Immune response to chronic red blood cell transfusion. 660 81

Our experience at the Ramathibodi Hospital with 20 infants and children who had Aeromonas septicemia is reviewed. Their ages were from 1 day to 14 years. Eighteen patients had underlying diseases: leukemia, 5; aplastic anemia, 4; cirrhosis, 2; thalassemia/hemoglobinopathy, 3; renal failure, 1; ileal perforation, 1; marasmus, 1; and cavernous hemangioma with thrombocytopenia, 1. Blood cultures yielded Aeromonas hydrophila in all patients, and four patients had polymicrobial bacteremia. Fifteen episodes of septicemia were community-acquired and five were hospital-acquired. The clinical manifestations of these patients were similar to septicemia due to other Gram-negative enteric bacilli. Two patients each had ecthyma gangrenosum, necrotizing fasciitis and meningitis. Antibiotic treatment included penicillins, cephalosporins, aminoglycosides and sulfamethoxazole-trimethoprim. The overall case fatality rate was 50%; eight of the nine patients with acute leukemia or aplastic anemia died. With the exception of one child the blood cultures were sterile in all patients before death. Aeromonas septicemia is an uncommon but severe infection which occurs predominantly in compromised hosts.
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PMID:Aeromonas septicemia in infants and children. 672 2

Vaccine-induced levels of antibody to Streptococcus pneumoniae of approximately 250-300 ng of antibody nitrogen/ml are protective against pneumococcal disease. Side effects of vaccination are not severe and are generally confined to local reactions at the site of inoculation. Patients with a documented high risk of acquiring pneumococcal disease include the elderly, especially those with underlying cardiopulmonary disease, and those with sickle cell anemia, Hodgkin's disease, a renal transplant, multiple myeloma, asplenia, and nephrotic syndrome. People with insulin-dependent diabetes mellitus or renal failure do not appear to be at high risk. All of these groups, except those with multiple myeloma, respond to vaccine with levels of antibody that are protective for many but not all of the serotypes included in the vaccine. Immunosuppression, splenectomy, and hemoglobinopathy depress antibody response. Duration of vaccine-induced antibody is unknown but may be shorter than that in normal persons. Preliminary guidelines for vaccination are proposed.
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PMID:Assessment of the antibody response to pneumococcal vaccine in high-risk populations. 702 58

Three of five siblings developed a steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis within a four-month period. Two of the siblings with nephrotic syndrome (Patients 1 and 2) also have sickle cell anemia; the third (Patient 3) carries the thalassemia trait. The dizygotic twin brother of Patient 2 has sickle cell anemia, but does not have the nephrotic syndrome. The nephrotic syndrome of patient 1 was resistant to corticosteroid and cyclophosphamide therapy and she developed severe renal failure 14 months after onset. The nephrotic syndrome of Patients 2 and 3 was steroid resistant but was partially responsive to cyclophosphamide therapy. They have persistent proteinuria with mild elevation of serum creatinine concentration and hypertension 5 1/2 years after diagnosis. In this family, the nephrotic syndrome appeared unrelated to the specific hemoglobinopathy, HLA type or mixed lymphocyte culture responsiveness despite the similarity of the renal disease.
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PMID:Familial nephrotic syndrome and focal segmental glomerulosclerosis. 719 18

The complications and results of 16 primary and revision total hip arthroplasties in patients with sickle-cell hemoglobinopathies were evaluated. One patient died from renal failure at 1 year, leaving 15 hips in 10 patients for review at a mean follow-up period of 6 years (range, 2-12 years). There were 7 cementless primary total hip arthroplasties and 8 revision arthroplasties, 6 of which were uncemented. Patients were evaluated clinically using a standard hip rating system and radiographically using accepted criteria. There were no early or late deep infections; however, 7 of 8 primary arthroplasties and 5 of 8 revisions had one or more early complications. No cementless component demonstrated loosening; however, there was asymptomatic polyethylene wear in 2 primary arthroplasties, treated with grafting and liner exchange, and femoral osteolysis was present in 4 of 13 cementless arthroplasties, one of which was revised to permit extensive grafting. Of the original 15 arthroplasties performed by the senior author, 5 required some type of reoperation during the study. At most recent follow-up evaluation, no component in the study was radiographically loose. In the hips that did not require reoperation, the overall results were excellent in 6 hips, good in 3, and poor in 1 hip. Of the 5 hips requiring reoperation, the results were excellent in 3 hips, good in 1, and fair in 1 hip at most recent follow-up evaluation. Cementless components should be considered for all primary and revision arthroplasties in patients with sickle-cell hemoglobinopathies, but early complications are frequent and a high incidence of polyethylene wear and osteolysis requiring reoperation may be expected.
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PMID:Results and complications of total hip arthroplasties in patients with sickle-cell hemoglobinopathies. Role of cementless components. 919 18

Little is known about treatment of hepatitis C virus (HCV) infection in "other groups" than the general population, namely patients with hematologic or renal disorders and patients with human immune deficiency (HIV) co-infection. The aim was to better define HCV therapies in these groups. We analyzed the medical literature focusing on treatment of HCV infection in other populations to suggest conclusions about indications based on tolerance and efficacy. As in the general population, the decision to treat should be based mainly on liver pathology, and to a lesser extent on virologic profiles (genotype, quantitative viremia). Hemophilia does not modify therapeutic strategies which combine interferon-alpha and ribavirin. Similar combinations should be discussed in patients with inherited hemoglobin disorders but iron overload (secondary hemochromatosis) associated with multiple transfusions may decrease the potential efficacy of interferon-alpha and chronic anemia may limit the use of ribavirin. In hemodialyzed patients, therapy by interferon-alpha is feasible with 3 MU subcutaneously after each hemodialysis three times weekly for 6-12 months. Virologic results are at least similar to those obtained in the general population with frequent pathological improvement. Combinations are not possible because ribavirin is contraindicated for pharmacokinetic reasons. In kidney recipients, interferon-alpha is deleterious and inefficient; ribavirin monotherapy has a potential interest which remains to be evaluated. In HIV co-infected patients, treatment is mandatory given the high rate of cirrhosis and the improved survival related to multiple anti-HIV therapies (which have no clear efficacy for quantitative HCV viremia). Due to the limited efficacy of interferon-alpha monotherapy, the combination of interferon-alpha and ribavirin appears to be the logical treatment. An important point is the in vitro inhibition of phosphorylation by ribavirin of HIV reverse transcriptase inhibitors which has to be analyzed in vivo before the combination can be recommended. On the basis of the results of liver biopsy, antiviral treatments may be proposed for HCV-infected patients with hematologic or renal disorders as well as for HIV co-infected patients. The choice of therapy (monotherapy or combined therapies) should be based on the clinical situation (contraindicated with chronic anemia or renal failure, for example) and its duration on the virologic factors of response as in the general population.
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PMID:Treatment of chronic hepatitis C in special groups. 1062 89

Blackwater fever is characterized by severe intravascular hemolysis with renal failure caused by recurrent use of quinine for prophylaxis. Once described in European patients, sporadic cases have been reported more and more often in autochthonous Africans and Asians. Newer antimalarials including aminoalchohol mefloquine, and halofantrine have also been implicated in Blackwater fever. In this report we describe two cases of blackwater fever involving patients with sickle cell anemia (HbSS). Symptoms including fever, acute hemolytic anemia, emesis, back pain, and hemoglobinuria were characteristic of blackwater fever. Both patients died. Although the underlying mechanism of blackwater fever remains unclear, a likely explanation is an immunoallergic reaction to quinine. Association with glucose-6-phosphate dehydrogenase deficiency has often been reported. Our cases suggest that blackwater fever may also be correlated with hemoglobinopathy such as HbSS.
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PMID:[Blackwater fever in adults with sickle cell anemia. Two fatal cases]. 1110 Apr 42

In developing countries, multiple comorbidities such as malnutrition, parasitoses, and hemoglobinopathies contribute to the aggravation of anemia observed in patients with end-stage renal diseases. We analyze here the results of a retrospective evaluation of red-cells indices and iron parameters conducted at the end of December 2000 in 304 prevalent Tunisian patients (sex ratio, 1.05; mean age, 53.7 years) receiving chronic hemodialysis for a median duration of 49.6 months (range, 1.6 to 278). Anemia, observed in 87.8% of patients, was normochromic and normocytic in 73% of cases. Only 2% of patients had microcytic and hypochromic anemia. Iron deficiency was observed in 21.6% of anemic patients. The mean rate of hemoglobin was significantly higher in men and in patients with polycystic kidney disease as the cause of renal failure. There was a positive correlation between hemoglobin values and the quality of dialysis. Only 10.8% of patients were on recombinant human erythropoietin (rHuEPO) and 38% required regular transfusions. We conclude that anemia observed in our patients had, in most cases, the characteristics of renal anemia and could be attributed to a deficit of renal production of erythropoietin. However, for financial reasons, prescription of rHuEPO is rather restrictive and blood transfusion remains largely used. The nephrology community and dialysis providers should increase their efforts to improve the anemia care of dialyzed patients in developing countries.
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PMID:Anemia and end-stage renal disease in the developing world. 1219 29

We have characterized a new abnormal hemoglobin (Hb) at position 32 of the alpha-globin chain. The proband, a 38-year-old woman of Surinamese Black ancestry, was referred to the Academic Hospital in Amsterdam, The Netherlands, after 3 years of Prednisone treatment in Surinam. Kidney failure was diagnosed at the Nephrology Department, Free University Medical Center, Amsterdam, The Netherlands; the cortisone treatment was interrupted and dialysis was started. At this stage, a microcytic hypochromic anemia was observed with high reticulocyte (40%) and ferritin (500 microg/L) levels, and hemoglobinopathy was suspected. No abnormal bands were visible on alkaline electrophoresis and high performance liquid chromatography (HPLC). The Hb A2 level was normal (2.7%) and the erythrocyte count was low (3.59 x 10(12)/L) with a normal haptoglobin level (68 mg/100 mL). None of the common alpha-thalassemia (thal) deletion defects were present. The beta-globin gene sequence was normal but the alpha2-globin gene sequence revealed an ATG-->ATA transition at codon 32, changing the methionine into an isoleucine residue. The mutation, called Hb Amsterdam, was observed in the mother of the proband, who was also heterozygous for the--alpha3.7-thal deletion and affected by a moderate microcytic hypochromic anemia. Both Hb Amsterdam and the--alpha(-3.7) allele were found in association with a new polymorphism, IVS-I-39 (C-->T), previously observed in our laboratory in seven patients of African origin, on both the alpha1 and alpha2 genes. In addition, Hb Amsterdam was also associated with the common African alpha2 polymorphism (G-->CTCGGCCC at position 7238 and T-->G at position 7174). Hb Amsterdam is the first mutation ever described at codon alpha32, a position involved in alpha1/beta1 interaction. The possibility of a contribution of this mutation to the nephropatic state of the proband is discussed.
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PMID:Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism. 1637 Apr 85


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