Prevalence of positive factor V Leiden and prothrombin mutations in samples tested for thrombophilia in Saudi Arabia

xlomafota13 shared this article with you from Inoreader Prevalence of positive factor V Leiden and prothrombin mutations in samples tested for thrombophilia in Saudi Arabia Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):255-260. eCollection 2021. ABSTRACT Venous thromboembolism (VTE) is a multifactorial disease that results from the interaction of both inherited and acquired risk factors. The complications of these risk factors often lead to significant morbidity and mortality. There are many inherited thrombophilia risk factors, such as factor V Leiden (FVL) and prothrombin gene mutation (PT). The prevalence of these mutations varies among geographical locations and ethnic groups. OBJECTIVES: This is a retrospective analysis of laboratory data aimed to estimate the laboratory-based frequency of FVL and PT mutations and assess the concordance between the coagulation assay and FVL molecular test. METHODS: The study reviewed the frequency of positive blood samples tested by molecular and functional-based techniques. The demographic and laboratory data of patients tested in molecular and coagulation laborator ies at the Institute for Thrombophilia were reviewed and analyzed. RESULTS: A total of 1524 samples were tested for FVL, 1023 for PT, and 1057 for APCR. Results showed that 90 (5.9%) patients were positive for FVL, 30 (2.93%) for PT mutations, and 95 (8.99%) had low APCR, while 38 (3.69%) patients had low APCR with no FVL mutation. CONCLUSION: This study reports high positive results among patients tested as part of thrombophilia workup or screening for other clinical conditions associated with the increased risk of thrombosis. The limitation of this study was that it had minimal clinical correlation because the data were collected retrospectively from laboratory records. PMID:34322288 | PMC:PMC8303010 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Evaluation of clinical characteristics of patients with paroxysmal nocturnal hemoglobinuria treated with eculizumab in Turkey: a multicenter retrospective analysis

xlomafota13 shared this article with you from Inoreader Evaluation of clinical characteristics of patients with paroxysmal nocturnal hemoglobinuria treated with eculizumab in Turkey: a multicenter retrospective analysis Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):279-285. eCollection 2021. ABSTRACT Paroxysmal nocturnal hemoglobinuria (PNH) is a rare X-linked genetic disorder. On the contrary to its name, it is a multisystemic disease and various symptoms other than hemoglobinuria could be occurred. It could be life threatening especially because of thromboembolic events. In the last decade, a terminal complement inhibition with eculizumab approved with promising results for PNH patients. We conducted this study to evaluate the long term experience of eculizumab therapy from Turkey for the first time. Our cohort included 138 patients with PNH treated with eculizumab between January 2008 and December 2018 at 28 centers in Turkey. Laboratory and clinical findings at the time of diagnosis and after eculizumab therapy were recorded retrospectively. The median age was 39 (range 18-84) years and median granulocyte PNH clone size was 74% (range 3.06-99.84%) at the time of diagnosis. PNH with bone marrow failure syndrome was detected in 49 patients and the rest of 89 patients had classical PNH. Overall 45 patients (32.6%) had a history of any prior thrombotic event before eculizumab therapy and only 2 thrombotic events were reported during the study period. Most common symptoms are fatigue (75.3%), hemoglobinuria (18.1%), abdominal pain (15.2%) and dysphagia (7.9%). Although PNH is commonly related with coombs negativity, we detected coombs positivity in 2.17% of patients. Seven months after the therapy, increased hemoglobin level was seen and remarkably improvement of lactate dehydrogenase level during the treatment was occurred. In addition to previous studies, our real life data support that eculizumab is well tolerated with no serious adverse events and improves the PNH related findings. PMID:34322292 | PMC:PMC8303018 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Hyperhomocysteinemia-related lung disease and hemolytic anemia with bone marrow features masquerading as myelodysplasia

xlomafota13 shared this article with you from Inoreader Hyperhomocysteinemia-related lung disease and hemolytic anemia with bone marrow features masquerading as myelodysplasia Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):266-270. eCollection 2021. ABSTRACT Hyperhomocysteinemia is linked to TMA-related clinical symptoms such as apparent thromboembolism, microangiopathic hemolytic anemia (MAHA), and various types of end-organ damage due to microvascular thrombi; this is because high plasma levels of homocysteine impair the vascular endothelium. However, the association between hyperhomocysteinemia and pulmonary involvement is unclear. Here, we describe a 63-year-old male who was hospitalized with respiratory failure and MAHA with MDS-like features in the bone marrow. Plasma homocysteine levels were elevated significantly with 199.4 µmol/L (reference: 6.3-18.9) due to a homozygous (T/T) polymorphism for the 677C>T mutation within the MTHFR gene associated with chronic alcoholism-induced folate deficiency. Pulmonary lesions showed ground-glass opacity and there was pleural effusion. The patient was managed succe ssfully with a combination of folate/mecobalamin supplementation, plasma exchange, and a methylprednisolone pulse, followed by oral prednisolone. Clinical symptoms, lung disease, MAHA, and bone marrow abnormalities improved as plasma homocysteine levels normalized. PMID:34322290 | PMC:PMC8303007 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

SARS-CoV-2 infection in a pediatric acute leukemia patient on chemotherapy and concurrent sofosbuvir/velpatasvir for HCV

xlomafota13 shared this article with you from Inoreader SARS-CoV-2 infection in a pediatric acute leukemia patient on chemotherapy and concurrent sofosbuvir/velpatasvir for HCV Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):286-289. eCollection 2021. ABSTRACT There are new targets identified by experimental and animal research for treatment of SARS-COV-2 (Severe acute respiratory syndrome-Corona Virus-2) infection. Out of many clinical trials registered, there are ongoing human studies highlighting Sofosbuvir's possible role in the treatment of Covid-19 (Coronavirus Disease 2019). Here we present a case of acute leukemia on directly acting antiviral therapy (DAAs) for HCV infection mitigating SARS-COV-2 infection in a patient undergoing chemotherapy. The child was undergoing chemotherapy, along with directly acting antiviral for acute hepatitis C infection. He initially had features of hypoxia and radiological evidence of covid-19. He had an uneventful course and tested negative ten days after onset of illness. With ongoing trials on Sofosbuvir in covid 19 treatment, our finding, albeit coincidental, points to the possibl e role even in immune-compromised children. PMID:34322293 | PMC:PMC8303012 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Haemoglobin cut-off values for the diagnosis of anaemia in preschool-age children

xlomafota13 shared this article with you from Inoreader Haemoglobin cut-off values for the diagnosis of anaemia in preschool-age children Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):248-254. eCollection 2021. ABSTRACT BACKGROUND: The World Health Organisation (WHO) suggests haemoglobin that (Hgb) cut-off levels below 2SD from the population mean to initiate anaemia investigations. In the absence of epidemiological data, Hgb less than 11 g/dL is considered abnormal in children up to the age of 59 months (4 years and eleven months). OBJECTIVES: This study reports on the Hgb cut-off levels among children at 1 and 4 years of age. The study compared the prevalence based on the WHO generic cut-off levels and population-specific cut-off-based value defined as below 2SD from the population mean. DESIGN, SETTINGS, AND PARTICIPANTS: A cross-sectional record-based study of healthy children below the age of 59 months attending primary care settings in Qatar. 3 years of Hgb data were collected and analysed using descriptive analyses. We excluded children with any pre-existing disea se or who have altered biological parameters indicating a non-healthy child. RESULTS: 39407 Participants were stratified into different sub-groups according to age, gender, and ethnicity. Hgb levels were expressed as the mean ± 2SD for children of one and four years of age. Most children were from Western Asia (45.6%), followed by Northern Africa (23.7%), and Southern Asia (21.7%). Our findings for one-year-old children cut-off levels for anaemia might be as low as 9.9 g/dL and 10.6 g/dL for 4-years old. CONCLUSION: Hgb cut-off values may be set at higher levels for one-year and four-year age groups and many different ethnicities. Higher cut-off points may overestimate the problem as a public health issue. Children may be unnecessarily treated with iron or have needless investigations. PMID:34322287 | PMC:PMC8303014 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Hypomethylating agents+venetoclax induction therapy in acute myeloid leukemia unfit for intensive chemotherapy - novel avenues for lesser venetoclax duration and patients with baseline infections from a developing country

xlomafota13 shared this article with you from Inoreader Hypomethylating agents+venetoclax induction therapy in acute myeloid leukemia unfit for intensive chemotherapy - novel avenues for lesser venetoclax duration and patients with baseline infections from a developing country Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):290-302. eCollection 2021. ABSTRACT Both elderly acute myeloid leukemia (AML) patients and those with baseline infections, when treated with intensive chemotherapy, are associated with high induction mortality. We report 24 patients (16-newly-diagnosed, 8-relapsed/refractory) with AML deemed unfit for intensive chemotherapy (by virtue of age >60 years, ECOG-PS 3-4, or those with non-resolving infections at baseline), treated with azacytidine-venetoclax combination as induction chemotherapy. Median follow-up of the study group was 8 months. The overall complete remission (CR)+CR with incomplete count recovery (CRi) rate was 58.3%. 1-year progression-free survival and overall survival of the whole cohort was 44.4% and 55.8%, respectively. On subgroup analysis, newly-diagnosed AML (p=0.05), intermediate-risk cytogenetics (p=0.007), and HMA-naïve (p=0.05) patients had a significantly better outcome. AM L patients with baseline infections (versus without infections) treated with azacytidine-venetoclax induction, have lesser induction mortality (compared with historic intensive chemotherapy) with equivalent response rates. A detailed analysis amongst cohorts with different venetoclax durations revealed that, shorter duration (<21 days) venetoclax (versus 21-28 days duration) in induction therapy leads to similar response rates and similar severity of myelosuppression, however, with early count recovery and lesser duration of intravenous antibiotics. PMID:34322294 | PMC:PMC8303019 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

A new FLT3 inhibitor with two cases: the gilteritinib experience

xlomafota13 shared this article with you from Inoreader A new FLT3 inhibitor with two cases: the gilteritinib experience Via American Journal of Blood Research Am J Blood Res. 2021 Jun 15;11(3):271-278. eCollection 2021. ABSTRACT INTRODUCTION: In acute myeloid leukemia (AML), a heterogeneous group of leukemias, there are various factors to determine prognosis. Among these prognostic factors, cytogenetic results are increasing in importance day by day. FLT3 mutations are among the most common molecular abnormalities in AML, patients with recurrent or refractory (R/R) AML with this mutation have a low response rate to salvage therapy. Gilteritinib has activity against FLT3, ALK and AXL. This article shall present two cases, for which Gilteritinib was used, a new FLT3 inhibitor, and the results of the treatment. Case 1: A 52-year-old female patient presented to the emergency clinic with weakness and fever. In initial biochemical analysis, leukocyte was 104000/mm3. Peripheral smear contained diffuse myeloid blastoid cells, peripheral blood flow cytometry also supported the AML M0-1 phe notype. The bone marrow biopsy aspiration performed on the 14th day of induction "3+7" treatment, contained diffuse blastic infiltrate and supported refractory disease. In addition to the FLAG-IDA salvage regimen, 120 mg/day Gilteritinib was also started. Bone marrow aspiration performed on the 28th day of salvage therapy was compatible with remission. Case 2: 53 years old male patient with also no comorbidity other than known hypertension. In the initial biochemical analysis of the patient, leukocyte was 156000/mm3, platelet 58000/mm3 and hemoglobin 7.6 g/dl. Peripheral blood flow cytometry supported the AML M5 phenotype, whose peripheral smear showed diffuse monoblastoid cells. On the 14th day of the patient's 3+7 induction treatment, the control bone marrow aspiration showed diffuse blast infiltration and was considered refractory, FLAG-IDA salvage therapy with again 120 mg/day Gilteritinib per oral were started. On the 28th day, control bone marrow aspiration was evaluated as remission. DISCUSSION AND CONCLUSION: Unlike other FLT 3 inhibitors, Gilteritinib has been shown to be a highly effective agent in R/R AML with FLT3 mutations. Being the first data to be reported from Turkey, we think it would be quite guiding the titular. PMID:34322291 | PMC:PMC8303015 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.