27 research outputs found
Possible side effects of ChAdOx1 nCov-19 vaccine in patients with sickle cell disease
No full textVaccines against acute respiratory syndrome Coronavirus 2(SARS-CoV2) are critical weapons to control the spread of the deadly Coronavirus 2019(COVId-19) virus worldwide. Although these vaccines are generally safe, their widespread use has produced reports of rare complications, including vaccine-induced immune thrombotic thrombocytopenia (VIITT), particularly in connection with ChAdOx1 nCov-19. We have identified three cases of sickle cell disease (SCD) experiencing a severe vaso-occlusive crisis (VOC) shortly after the vaccine. Despite being stable for a long time, they had fever with tachycardia, along with a significant rise in WBC, liver enzymes, particularly alkaline phosphate, with a remarkable drop in hemoglobin, and platelets and one of them probably had fatal TTP like syndrome. Given these findings, physicians and patients should exercise caution when taking this type of vaccine and be aware of these safety concerns
Prevalence of methicillin resistant Staphylococcus aureus [MRSA] colonization or carriage among health-care workers
No full textSummaryIn Oman, the prevalence of health care associated methicillin resistant Staphylococcus aureus [HA-MRSA] is unknown. Therefore, to estimate the prevalence of HA-MRSA, we collected nasal swabs and swabs from cell phones on sterile polyester swabs and immediately inoculated on the mannitol salt agar containing oxacillin from medical students and hospital health care providers. Antibiotic susceptibility testing of the isolates was then performed using the Kirby Bauer's disc diffusion method. Additionally, a brief survey questionnaire was used to acquire demographic data. Amongst the 311 participants enrolled, nasal colonization with HA-MRSA was found in 47 individuals (15.1%, 95% confidence interval [CI]=11.1%, 19.1%). HA-MRSA was also isolated from the cell phone surfaces in 28 participants (9.0%, 95% CI=8.6%, 9.3%). 5 participants (1.6%) showed positive results both from their nasal swabs and from their cell phones. Antibiotic resistance to erythromycin [48%] and clindamycin [29%] was relatively high. 9.3% HA-MRSA isolates were vancomycin resistant [6.6% nasal carriage]. There was no statistically significant correlation between HA-MRSA isolates and the demographic characteristics or the risk factors namely gender, underlying co-morbidities like diabetes, hypertension, skin/soft tissue infections, skin ulcers/wounds, recent exposure to antibiotics, or hospital visits (p>0.05, Chi-square test)
Iron overload in thalassemia and sickle cell disease
No full text[No abstract available]AESSOPOS A, 1995, CHEST, V107, P50, DOI 10.1378-chest.107.1.50; Arruda VR, 1997, NEW ENGL J MED, V336, P964, DOI 10.1056-NEJM199703273361318; BARRY M, 1974, BRIT MED J, V2, P16; Bradai M, 2003, BLOOD, V102, P1529, DOI 10.1182-blood-2003-01-0117; Brugnara C, 2001, SEMIN HEMATOL, V38, P324, DOI 10.1053-shem.2001.27568; CAMASCHELLA C, 1995, HAEMATOLOGICA, V80, P58; Cappellini MD, 2000, BLOOD CELL MOL DIS, V26, P105; Cazzola M, 1997, TRANSFUSION, V37, P135, DOI 10.1046-j.1537-2995.1997.37297203514.x; COOK J D, 1970, Journal of Clinical Investigation, V49, P197, DOI 10.1172-JCI106228; De Franceschi L, 2004, HAEMATOLOGICA, V89, P348; De Sanctis V, 2002, HORM RES, V58, P72, DOI 10.1159-000064766; EHLERS KH, 1991, J PEDIATR, V118, P540, DOI 10.1016-S0022-3476(05)83374-8; GULLO L, 1993, PANCREAS, V8, P176, DOI 10.1097-00006676-199303000-00007; HERSHKO C, 1979, BRIT J HAEMATOL, V42, P125, DOI 10.1111-j.1365-2141.1979.tb03704.x; HERSHKO C, 1988, CRIT REV CL LAB SCI, V26, P303, DOI 10.3109-10408368809105894; Hershko C, 1998, BRIT J HAEMATOL, V101, P399, DOI 10.1046-j.1365-2141.1998.00726.x; Jensen CE, 1998, BRIT J HAEMATOL, V103, P911; Jiang R, 2004, JAMA-J AM MED ASSOC, V291, P711, DOI 10.1001-jama.291.6.711; KREMASTINOS DT, 1995, CIRCULATION, V91, P66; Lawson SE, 2003, BRIT J HAEMATOL, V120, P289, DOI 10.1046-j.1365-2141.2003.04065.x; Li CK, 2004, PEDIATR HEMAT ONCOL, V21, P411, DOI 10.1080-08880010490457132; Low LCK, 1997, J PEDIATR ENDOCR MET, V10, P175; MARCUS RE, 1984, LANCET, V1, P392; Modell B, 2000, LANCET, V355, P2051, DOI 10.1016-S0140-6736(00)02357-6; MOHANDAS N, 1984, BLOOD, V64, P282; Morris CR, 2003, J PEDIAT HEMATOL ONC, V25, P629, DOI 10.1097-00043426-200308000-00008; Olivieri N, 1998, BAILLIERE CLIN HAEM, V11, P147, DOI 10.1016-S0950-3536(98)80073-5; Olivieri NF, 1999, NEW ENGL J MED, V341, P99, DOI 10.1056-NEJM199907083410207; Olivieri NF, 1997, LANCET, V350, P491, DOI 10.1016-S0140-6736(05)63080-2; Olivieri NF, 1996, SEMIN HEMATOL, V33, P24; Olivieri NF, 1997, BLOOD, V89, P739; Pathare Anil, 2003, Hematology, V8, P329, DOI 10.1080-10245330310001604719; POOTRAKUL P, 1988, BLOOD, V71, P1124; Saunthararajah Y, 2003, BLOOD, V102, P3865, DOI 10.1182-blood-2003-05-1738; STAL P, 1995, DIGEST DIS, V13, P205, DOI 10.1159-000171503; Steinberg MH, 1999, NEW ENGL J MED, V340, P1021; Steinberg MH, 2003, JAMA-J AM MED ASSOC, V289, P1645, DOI 10.1001-jama.289.13.1645; WAUTIER JL, 1983, J LAB CLIN MED, V101, P911; Weatherall DJ, 1996, NAT MED, V2, P847, DOI 10.1038-nm0896-847; Westerdale Neill, 2004, Prof Nurse, V19, P402; WOLFE L, 1985, NEW ENGL J MED, V312, P1600, DOI 10.1056-NEJM198506203122503; Wood JC, 2004, BLOOD, V103, P1934, DOI 10.1182-blood-2003-06-1919; ZURLO MG, 1989, LANCET, V2, P2716101
Visceral leishmaniasis and haemophagocytic syndrome in an Omani child
No full textThe paper reports the case of a previously healthy 4-year-old-girl who presented with pallor, fever and hepatosplenomegaly. Laboratory findings included pancytopenia, hypertriglyceridemia and hyperferritinemia. Initial diagnosis of kala-azar could not be confirmed because of the absence of clinical evidence, negativity of bone marrow aspiration or specific serology for visceral leishmaniasis. Repeated marrow aspiration, performed due lack of clinical response, revealed histiocytes showing haemophagocytosis consistent with haemophagocytic lymphohistocytosis (HLH) and appropriate treatment was started. She continued to have high-grade fever, and a third bone marrow aspiration ultimately revealed presence of Leishmania amastigotes with evidence of active haemophagocytosis. The girl was treated with liposomal amphotericin (AmBisome) for 5 days, following which she recovered rapidly with definitive remission.
Influence of Voxelotor–hemoglobin complexes in the estimation of hemoglobin S levels by the current standard of care laboratory evaluation techniques
No full textBackgroundSickle cell disease is an inherited disorder characterized by the presence of sickle hemoglobin (HbS). The process of Hb molecule polymerization is a pivotal step in the sickling process. Voxelotor, a recently approved novel therapeutic agent, is known to interfere with polymerization. We aim to study the impact of Voxelotor on Hb variants analysis using high performance liquid chromatography (HPLC).Material and methodsWe are reporting the impact of Voxelotor on Hb variants analysis using HPLC after an informed consent and medical research committee approval. Data was collected from eight patients who are enrolled in the GBT440-034OL study using electronic medical records, to evaluate the Hb levels, hemolytic markers and the clinical response.ResultsOur patients were well-balanced for gender, with a mean age of 31.1 years (19–50). Six patients showed a significant improvement in the Hb level, with reduced reticulocytes, bilirubin, LDH and an improved clinical outcome. Interestingly, these patients showed the appearance of a split band of Hb S and D on HPLC impacting significantly on HbS level. Two patients did not show any improvement on laboratory parameters, and no changes on their HPLC analysis.ConclusionsWe report here eight patients on Voxelotor therapy, six of which showed improved hemolytic markers and anemia and demonstrated the appearance of HbD peak on the HPLC chromatogram. Therefore, the absence of HbD on HPLC or other laboratory methods for estimating HbS in patients on Voxelotor therapy, gives the clinician a possible hint regarding the patient's compliance with the drug
Image_2_Iron Overload in Patients With Heavily Transfused Sickle Cell Disease—Correlation of Serum Ferritin With Cardiac T2* MRI (CMRTools), Liver T2* MRI, and R2-MRI (Ferriscan®).JPEG
No full textThe treatment of sickle cell disease (SCD) is mainly supportive, except for a minority, who receive bone marrow transplantation (BMT). Serum ferritin (SF) is routinely available but is notoriously unreliable as a tool for iron-overload assessment since it is an acute-phase reactant. Although blood transfusion is one of the most effective ways to deal with specific acute and chronic complications of SCD, this strategy is often associated with alloimmunization, iron overload, and hemolytic reactions. This study, thus, aims to evaluate iron overload in patients with SCD on chronic blood transfusions and specifically, correlate SF with the current standard of care of iron-overload assessment using MRI-based imaging techniques. Amongst a historic cohort of 58 chronically transfused patients with SCD, we were able to evaluate 44 patients who are currently alive and had multiple follow-up testing. Their mean age (±SD) was 35 (9) years and comprised of 68.2% of women. The studied iron-overload parameters included cardiac T2* MRI, liver iron concentration (LIC) by Liver T2* MRI, and serial SF levels. Additionally, in a smaller cohort, we also studied LIC by FerriScan© R2-MRI. Chronic blood transfusions were necessary for severe vaso-occlusive crisis (VOC) (38.6%), severe symptomatic anemia (38.6%), past history of stroke (15.9%), and recurrent acute chest syndrome (6.9%). About 14 (24%) patients among the original cohort died following SCD-related complications. Among the patients currently receiving chelation, 26 (96%) are on Deferasirox (DFX) [Jadenu® (24) or Exjade® (2)], with good compliance and tolerance. However, one patient is still receiving IV deferoxamine (DFO), in view of the significantly high systemic iron burden. In this evaluable cohort of 44 patients, the mean SF (±SD) reduced marginally from 4,311 to 4,230 ng/ml, mean Liver T2* MRI dropped from 12 to 10.3 mg/gm dry weight, while the mean cardiac T2*MRI improved from 36.8 to 39.5 ms. There was a mild to moderate correlation between the baseline and final values of SF ng/ml, r = 0.33, p = 0.01; Cardiac T2* MRI ms, r = 0.3, p = 0.02 and Liver T2* MRI mg/kg dry weight, r = 0.6, p * MRI (Pearson's r = 0.78, p *MRI increased with the decreasing SF concentration, showing a negative correlation which was statistically significant (Pearson's r = −0.6, p © R2-MRI mg/g or mmol/kg (Spearmen's rho = −0.723, p * or by FerriScan© R2-MRI, even though SF is an acute-phase reactant. It also confirms the cardiac sparing effect in patients with SCD, even with the significant transfusion-related iron burden. About 14 (24%) patients of the original cohort died over the past 15 years, indicative of a negative impact of iron overload on disease morbidity and mortality.</p
Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study
No full textX-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. It is due to mutations of the erythroid-specific enzyme ALAS2, the first enzyme of the heme biosynthetic pathway. Herein, we report a novel 11-bp deletion in exon 11 leading to a frameshift in the C-terminal region of the ALAS2 gene with a non-functional longer polypeptide of 614 amino acids leading to a loss-of-function mutation manifested as an X-linked sideroblastic anemia phenotype. The proband was a 29-year-old man with moderately severe microcytic hypochromic anemia with splenomegaly and increased ring sideroblasts in the bone marrow with considerable iron overload. Sanger sequencing documented a missense mutation leading to a frameshift with an elongated polypeptide of 614 AA instead of the normal 587 AA protein c.1743_1753 del (p.Gln581Hisfs*35). This mutation affected the interaction with cofactor pyridoxal 5′-phosphate since the patient’s hemoglobin improved with oral administration of pyridoxine tablets. His iron overload also responded to sustained oral iron chelation therapy with deferasirox. The screening of the entire family’s kindred revealed that two other male siblings were also hemizygous for the same mutation with hypochromic microcytic anemia and tissue iron overload, whereas, three female siblings and their mother were heterozygous for the mutant allele. They did not have anemia or iron overload
