Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia.

Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia. Cell Mol Biol (Noisy-le-grand). 2017 Dec 30;63(12):22-24 Authors: Maskoen AM, Rahayu NS, Reniarti L, Susanah S, Laksono B, Fauziah PN, Zada A, Hidayat DS Abstract Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/… (no paired mutation), 2.06% compound heterozygote HbE/… (no paired mutation), 1.3% compound h...
Source: Cellular and Molecular Biology - Category: Molecular Biology Tags: Cell Mol Biol (Noisy-le-grand) Source Type: research

Related Links:

AbstractPatients with autoimmune hemolytic anemia (AIHA) may require intensive care unit (ICU) admission. In order to describe the characteristics of AIHA patients in ICU and identify prognosis factors, clinical and biological data from 44 patients admitted in one ICU between 2002 and 2015 were retrospectively analyzed. The main reasons for ICU admission were profound anemia without any organ failure in 19 patients (either for safer transfusion or continuous monitoring only). Twenty-five (57%) patients had a past history of hemopathy. Twenty patients presented with a direct anti-globulin test (DAT) positive for immunoglobu...
Source: Annals of Hematology - Category: Hematology Source Type: research
Conclusion: Obstetric patients recover well if treated early. A good ICU care with monitoring can save a young productive life.
Source: Indian Journal of Anaesthesia - Category: Anesthesiology Authors: Source Type: research
Authors: Castillo-Torres SA, Atilano-Díaz A, Gómez-Almaguer D PMID: 30503069 [PubMed - as supplied by publisher]
Source: Medicina Clinica - Category: General Medicine Tags: Med Clin (Barc) Source Type: research
We describe a 39-year-old woman with relapsing-remitting multiple sclerosis who developed acute kidney injury requiring renal replacement therapy after 1 dose of alemtuzumab, as well as microangiopathic hemolytic anemia and thrombocytopenia. Pathologic examination of a kidney biopsy specimen demonstrated extensive cortical necrosis and arteriolar fibrin thrombi with nonspecific immunofluorescence staining of immunoglobulin M and C3 and absence of immune deposits on electron microscopy. These findings were consistent with the diagnosis of acute thrombotic microangiopathy. She received dexamethasone and underwent plasmaphere...
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
In conclusion, studies on non-industrialised populations in which there could be a real benefit from such supplementation, have yet to be conducted. PMID: 30513006 [PubMed - as supplied by publisher]
Source: International Journal of Food Sciences and Nutrition - Category: Nutrition Tags: Int J Food Sci Nutr Source Type: research
Authors: Karkouti K, Ho LTS Abstract The use of extracorporeal circulation for cardiac surgery and extracorporeal life support poses tremendous challenges to the hemostatic equilibrium given its diametric tendency to trigger hyper- and hypocoagulopathy. The necessity of anticoagulant therapy to counteract the hemostatic activation by the extracorporeal circuitry compounded by unfavorable patient and surgical factors significantly increase the risk of catastrophic bleeding in patients who require extracorporeal circulation. Preoperative measures, such as stratification of high-risk bleeding patients, and optimizatio...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Authors: Bacigalupo A Abstract Allogeneic hematopoietic stem-cell transplantation remains the only curative treatment for patients with acquired severe aplastic anemia (SAA). When a matched sibling is not available, one can search for a matched unrelated donor or a cord blood unit (CB) in the international registries or, more recently, for an HLA haploidentical (HAPLO) family member. International guidelines call for a course of antithymocyte globulin (ATG) and cyclosporine before a patient with SAA receives a transplant from a donor other than an HLA identical sibling, but whether this is necessary for patients ag...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
This article provides a brief, but comprehensive, review of our current understanding of clonal evolution in AA and concludes with 3 cases that illustrate a practical approach for integrating results of next-generation molecular studies into the clinical care of AA patients in 2018. PMID: 30504346 [PubMed - in process]
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Authors: Scheinberg P Abstract Since the approval of horse antithymocyte globulin (ATG) decades ago, there was a long hiatus in therapies with activity in severe aplastic anemia (SAA). This scenario changed in 2014 when eltrombopag, a thrombopoietin receptor agonist, was approved for SAA after an insufficient response to initial immunosuppressive therapy (IST). The basis for this approval was the observation of single-agent activity of eltrombopag in this patient population, where 40% to 50% recovered blood counts at times involving>1 lineage. The achievement of transfusion independence confirmed the clinical be...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Authors: Liem RI Abstract Development of exercise guidelines for individuals with sickle cell trait (SCT) and sickle cell anemia (SCA) is hampered by the need to weigh the benefits against risks of exercise in these populations. In SCT, concern for exercise collapse associated with sickle cell trait has resulted in controversial screening of student athletes for SCT. In SCA, there exists unsubstantiated concerns that high-intensity exercise may result in pain and other complications. In both, finding the "right dose" of exercise remains a challenge for patients and their providers. Despite assumptions tha...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
More News: Anemia | Biology | Genetics | Hospitals | Indonesia Health | Laboratory Medicine | Molecular Biology | Study